Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I
Identifieur interne : 000D14 ( Istex/Corpus ); précédent : 000D13; suivant : 000D15Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I
Auteurs : S. Saal ; L. Faivre ; Bernard Aral ; N. Gigot ; A. Toutain ; L. Van Maldergem ; A. Destree ; I. Maystadt ; J-P Cosyns ; P-S Jouk ; B. Loeys ; D. Chauveau ; E. Bieth ; V. Layet ; M. Mathieu ; J. Lespinasse ; A. Teebi ; B. Franco ; E. Gautier ; C. Binquet ; A. Masurel-Paulet ; C. Mousson ; J-B Gouyon ; F. Huet ; C. Thauvin-RobinetSource :
- Clinical Genetics [ 0009-9163 ] ; 2010-03.
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Abstract
Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns J‐P, Jouk P‐S, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel‐Paulet A, Mousson C, Gouyon J‐B, Huet F, Thauvin‐Robinet C. Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I. The oral‐facial‐digital syndrome type I (OFD I) is characterized by multiple congenital malformations of the face, oral cavity and digits. A polycystic kidney disease (PKD) is found in about one‐third of patients but long‐term outcome and complications are not well described in the international literature. Renal findings have been retrospectively collected in a cohort of 34 females all carrying a pathogenic mutation in the OFD1 gene with ages ranging from 1 to 65 years. Twelve patients presented with PKD – 11/16 (69%) if only adults were considered –with a median age at diagnosis of 29 years [IQR (interquartile range) = (23.5–38)]. Among them, 10 also presented with renal impairment and 6 were grafted (median age = 38 years [IQR = (25–48)]. One grafted patient under immunosuppressive treatment died from a tumor originated from a native kidney. The probability to develop renal failure was estimated to be more than 50% after the age of 36 years. Besides, neither genotype‐phenotype correlation nor clinical predictive association with renal failure could be evidenced. These data reveal an unsuspected high incidence rate of the renal impairment outcome in OFD I syndrome. A systematic ultrasound (US) and renal function follow‐up is therefore highly recommended for all OFD I patients.
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DOI: 10.1111/j.1399-0004.2009.01290.x
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<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I</title><author><name sortKey="Saal, S" sort="Saal, S" uniqKey="Saal S" first="S" last="Saal">S. Saal</name><affiliation><mods:affiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</mods:affiliation></affiliation></author><author><name sortKey="Faivre, L" sort="Faivre, L" uniqKey="Faivre L" first="L" last="Faivre">L. Faivre</name><affiliation><mods:affiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</mods:affiliation></affiliation></author><author><name sortKey="Aral, Bernard" sort="Aral, Bernard" uniqKey="Aral B" first="Bernard" last="Aral">Bernard Aral</name><affiliation><mods:affiliation>Laboratoire de Génétique Moléculaire, Hôpital du Bocage, CHU Dijon, France</mods:affiliation></affiliation></author><author><name sortKey="Gigot, N" sort="Gigot, N" uniqKey="Gigot N" first="N" last="Gigot">N. Gigot</name><affiliation><mods:affiliation>Laboratoire de Génétique Moléculaire, Hôpital du Bocage, CHU Dijon, France</mods:affiliation></affiliation></author><author><name sortKey="Toutain, A" sort="Toutain, A" uniqKey="Toutain A" first="A" last="Toutain">A. Toutain</name><affiliation><mods:affiliation>Service de Génétique, CHU Tours, France</mods:affiliation></affiliation></author><author><name sortKey="Van Maldergem, L" sort="Van Maldergem, L" uniqKey="Van Maldergem L" first="L" last="Van Maldergem">L. Van Maldergem</name><affiliation><mods:affiliation>Institut de Pathologie et de Génétique, Loverval, Belgium</mods:affiliation></affiliation></author><author><name sortKey="Destree, A" sort="Destree, A" uniqKey="Destree A" first="A" last="Destree">A. Destree</name><affiliation><mods:affiliation>Institut de Pathologie et de Génétique, Loverval, Belgium</mods:affiliation></affiliation></author><author><name sortKey="Maystadt, I" sort="Maystadt, I" uniqKey="Maystadt I" first="I" last="Maystadt">I. Maystadt</name><affiliation><mods:affiliation>Institut de Pathologie et de Génétique, Loverval, Belgium</mods:affiliation></affiliation></author><author><name sortKey="Cosyns, J" sort="Cosyns, J" uniqKey="Cosyns J" first="J-P" last="Cosyns">J-P Cosyns</name><affiliation><mods:affiliation>Department of Pathology, Cliniques Universitaires Saint‐Luc, Université Catholique de Loverval, Loverval, Belgium</mods:affiliation></affiliation></author><author><name sortKey="Jouk, P" sort="Jouk, P" uniqKey="Jouk P" first="P-S" last="Jouk">P-S Jouk</name><affiliation><mods:affiliation>Service de Génétique, CHU Grenoble, France</mods:affiliation></affiliation></author><author><name sortKey="Loeys, B" sort="Loeys, B" uniqKey="Loeys B" first="B" last="Loeys">B. Loeys</name><affiliation><mods:affiliation>Centre de Génétique Médicale, Ghent, Belgium</mods:affiliation></affiliation></author><author><name sortKey="Chauveau, D" sort="Chauveau, D" uniqKey="Chauveau D" first="D" last="Chauveau">D. Chauveau</name><affiliation><mods:affiliation>Service de Néphrologie, Immunologie Clinique, CHU Hôpital Rangueil, Toulouse, France</mods:affiliation></affiliation></author><author><name sortKey="Bieth, E" sort="Bieth, E" uniqKey="Bieth E" first="E" last="Bieth">E. Bieth</name><affiliation><mods:affiliation>Laboratoire de Génétique, CHU Purpan, Toulouse, France</mods:affiliation></affiliation></author><author><name sortKey="Layet, V" sort="Layet, V" uniqKey="Layet V" first="V" last="Layet">V. Layet</name><affiliation><mods:affiliation>Unité de Cytogénétique et Génétique médicale, CH Le Havre, France</mods:affiliation></affiliation></author><author><name sortKey="Mathieu, M" sort="Mathieu, M" uniqKey="Mathieu M" first="M" last="Mathieu">M. Mathieu</name><affiliation><mods:affiliation>Centre de référence, Anomalies du Développement et Syndromes Malformatifs, de la Région Nord, Département de Pédiatrie, Unité de Génétique Clinique, CHU Hôpital Nord, Amiens, France</mods:affiliation></affiliation></author><author><name sortKey="Lespinasse, J" sort="Lespinasse, J" uniqKey="Lespinasse J" first="J" last="Lespinasse">J. Lespinasse</name><affiliation><mods:affiliation>Laboratoire de Génétique Chromosomique, CH Chambéry, France</mods:affiliation></affiliation></author><author><name sortKey="Teebi, A" sort="Teebi, A" uniqKey="Teebi A" first="A" last="Teebi">A. Teebi</name><affiliation><mods:affiliation>Weill Cornell Medical College in Qatar, Qatar Foundation‐ Education City, Doha, Qatar</mods:affiliation></affiliation></author><author><name sortKey="Franco, B" sort="Franco, B" uniqKey="Franco B" first="B" last="Franco">B. Franco</name><affiliation><mods:affiliation>Laboratorio di Ricerca, Telethon Institute of Genetics and Medicine (TIGEM), Napoli, Italy</mods:affiliation></affiliation><affiliation><mods:affiliation>Medical Genetic Services, Department of Pediatrics, Federico II University of Naples, Naples, Italy</mods:affiliation></affiliation></author><author><name sortKey="Gautier, E" sort="Gautier, E" uniqKey="Gautier E" first="E" last="Gautier">E. Gautier</name><affiliation><mods:affiliation>Inserm, CIE1; Centre d’Investigation Clinique, Epidémiologie Clinique/Essais Cliniques, CHU Dijon, France</mods:affiliation></affiliation></author><author><name sortKey="Binquet, C" sort="Binquet, C" uniqKey="Binquet C" first="C" last="Binquet">C. Binquet</name><affiliation><mods:affiliation>Inserm, CIE1; Centre d’Investigation Clinique, Epidémiologie Clinique/Essais Cliniques, CHU Dijon, France</mods:affiliation></affiliation></author><author><name sortKey="Masurel Aulet, A" sort="Masurel Aulet, A" uniqKey="Masurel Aulet A" first="A" last="Masurel-Paulet">A. Masurel-Paulet</name><affiliation><mods:affiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</mods:affiliation></affiliation></author><author><name sortKey="Mousson, C" sort="Mousson, C" uniqKey="Mousson C" first="C" last="Mousson">C. Mousson</name><affiliation><mods:affiliation>Service de Néphrologie, Hôpital du Bocage, CHU Dijon, France</mods:affiliation></affiliation></author><author><name sortKey="Gouyon, J" sort="Gouyon, J" uniqKey="Gouyon J" first="J-B" last="Gouyon">J-B Gouyon</name><affiliation><mods:affiliation>Service de Pédiatrie 2</mods:affiliation></affiliation></author><author><name sortKey="Huet, F" sort="Huet, F" uniqKey="Huet F" first="F" last="Huet">F. Huet</name><affiliation><mods:affiliation>Service de Pédiatrie 1, Hôpital d’Enfants, CHU Dijon, France</mods:affiliation></affiliation></author><author><name sortKey="Thauvin Obinet, C" sort="Thauvin Obinet, C" uniqKey="Thauvin Obinet C" first="C" last="Thauvin-Robinet">C. Thauvin-Robinet</name><affiliation><mods:affiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:89994A96D303C43D1F002BFD2BA47297CF469A0B</idno><date when="2010" year="2010">2010</date><idno type="doi">10.1111/j.1399-0004.2009.01290.x</idno><idno type="url">https://api.istex.fr/document/89994A96D303C43D1F002BFD2BA47297CF469A0B/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000D14</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I</title><author><name sortKey="Saal, S" sort="Saal, S" uniqKey="Saal S" first="S" last="Saal">S. Saal</name><affiliation><mods:affiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</mods:affiliation></affiliation></author><author><name sortKey="Faivre, L" sort="Faivre, L" uniqKey="Faivre L" first="L" last="Faivre">L. Faivre</name><affiliation><mods:affiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</mods:affiliation></affiliation></author><author><name sortKey="Aral, Bernard" sort="Aral, Bernard" uniqKey="Aral B" first="Bernard" last="Aral">Bernard Aral</name><affiliation><mods:affiliation>Laboratoire de Génétique Moléculaire, Hôpital du Bocage, CHU Dijon, France</mods:affiliation></affiliation></author><author><name sortKey="Gigot, N" sort="Gigot, N" uniqKey="Gigot N" first="N" last="Gigot">N. Gigot</name><affiliation><mods:affiliation>Laboratoire de Génétique Moléculaire, Hôpital du Bocage, CHU Dijon, France</mods:affiliation></affiliation></author><author><name sortKey="Toutain, A" sort="Toutain, A" uniqKey="Toutain A" first="A" last="Toutain">A. Toutain</name><affiliation><mods:affiliation>Service de Génétique, CHU Tours, France</mods:affiliation></affiliation></author><author><name sortKey="Van Maldergem, L" sort="Van Maldergem, L" uniqKey="Van Maldergem L" first="L" last="Van Maldergem">L. Van Maldergem</name><affiliation><mods:affiliation>Institut de Pathologie et de Génétique, Loverval, Belgium</mods:affiliation></affiliation></author><author><name sortKey="Destree, A" sort="Destree, A" uniqKey="Destree A" first="A" last="Destree">A. Destree</name><affiliation><mods:affiliation>Institut de Pathologie et de Génétique, Loverval, Belgium</mods:affiliation></affiliation></author><author><name sortKey="Maystadt, I" sort="Maystadt, I" uniqKey="Maystadt I" first="I" last="Maystadt">I. Maystadt</name><affiliation><mods:affiliation>Institut de Pathologie et de Génétique, Loverval, Belgium</mods:affiliation></affiliation></author><author><name sortKey="Cosyns, J" sort="Cosyns, J" uniqKey="Cosyns J" first="J-P" last="Cosyns">J-P Cosyns</name><affiliation><mods:affiliation>Department of Pathology, Cliniques Universitaires Saint‐Luc, Université Catholique de Loverval, Loverval, Belgium</mods:affiliation></affiliation></author><author><name sortKey="Jouk, P" sort="Jouk, P" uniqKey="Jouk P" first="P-S" last="Jouk">P-S Jouk</name><affiliation><mods:affiliation>Service de Génétique, CHU Grenoble, France</mods:affiliation></affiliation></author><author><name sortKey="Loeys, B" sort="Loeys, B" uniqKey="Loeys B" first="B" last="Loeys">B. Loeys</name><affiliation><mods:affiliation>Centre de Génétique Médicale, Ghent, Belgium</mods:affiliation></affiliation></author><author><name sortKey="Chauveau, D" sort="Chauveau, D" uniqKey="Chauveau D" first="D" last="Chauveau">D. Chauveau</name><affiliation><mods:affiliation>Service de Néphrologie, Immunologie Clinique, CHU Hôpital Rangueil, Toulouse, France</mods:affiliation></affiliation></author><author><name sortKey="Bieth, E" sort="Bieth, E" uniqKey="Bieth E" first="E" last="Bieth">E. Bieth</name><affiliation><mods:affiliation>Laboratoire de Génétique, CHU Purpan, Toulouse, France</mods:affiliation></affiliation></author><author><name sortKey="Layet, V" sort="Layet, V" uniqKey="Layet V" first="V" last="Layet">V. Layet</name><affiliation><mods:affiliation>Unité de Cytogénétique et Génétique médicale, CH Le Havre, France</mods:affiliation></affiliation></author><author><name sortKey="Mathieu, M" sort="Mathieu, M" uniqKey="Mathieu M" first="M" last="Mathieu">M. Mathieu</name><affiliation><mods:affiliation>Centre de référence, Anomalies du Développement et Syndromes Malformatifs, de la Région Nord, Département de Pédiatrie, Unité de Génétique Clinique, CHU Hôpital Nord, Amiens, France</mods:affiliation></affiliation></author><author><name sortKey="Lespinasse, J" sort="Lespinasse, J" uniqKey="Lespinasse J" first="J" last="Lespinasse">J. Lespinasse</name><affiliation><mods:affiliation>Laboratoire de Génétique Chromosomique, CH Chambéry, France</mods:affiliation></affiliation></author><author><name sortKey="Teebi, A" sort="Teebi, A" uniqKey="Teebi A" first="A" last="Teebi">A. Teebi</name><affiliation><mods:affiliation>Weill Cornell Medical College in Qatar, Qatar Foundation‐ Education City, Doha, Qatar</mods:affiliation></affiliation></author><author><name sortKey="Franco, B" sort="Franco, B" uniqKey="Franco B" first="B" last="Franco">B. Franco</name><affiliation><mods:affiliation>Laboratorio di Ricerca, Telethon Institute of Genetics and Medicine (TIGEM), Napoli, Italy</mods:affiliation></affiliation><affiliation><mods:affiliation>Medical Genetic Services, Department of Pediatrics, Federico II University of Naples, Naples, Italy</mods:affiliation></affiliation></author><author><name sortKey="Gautier, E" sort="Gautier, E" uniqKey="Gautier E" first="E" last="Gautier">E. Gautier</name><affiliation><mods:affiliation>Inserm, CIE1; Centre d’Investigation Clinique, Epidémiologie Clinique/Essais Cliniques, CHU Dijon, France</mods:affiliation></affiliation></author><author><name sortKey="Binquet, C" sort="Binquet, C" uniqKey="Binquet C" first="C" last="Binquet">C. Binquet</name><affiliation><mods:affiliation>Inserm, CIE1; Centre d’Investigation Clinique, Epidémiologie Clinique/Essais Cliniques, CHU Dijon, France</mods:affiliation></affiliation></author><author><name sortKey="Masurel Aulet, A" sort="Masurel Aulet, A" uniqKey="Masurel Aulet A" first="A" last="Masurel-Paulet">A. Masurel-Paulet</name><affiliation><mods:affiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</mods:affiliation></affiliation></author><author><name sortKey="Mousson, C" sort="Mousson, C" uniqKey="Mousson C" first="C" last="Mousson">C. Mousson</name><affiliation><mods:affiliation>Service de Néphrologie, Hôpital du Bocage, CHU Dijon, France</mods:affiliation></affiliation></author><author><name sortKey="Gouyon, J" sort="Gouyon, J" uniqKey="Gouyon J" first="J-B" last="Gouyon">J-B Gouyon</name><affiliation><mods:affiliation>Service de Pédiatrie 2</mods:affiliation></affiliation></author><author><name sortKey="Huet, F" sort="Huet, F" uniqKey="Huet F" first="F" last="Huet">F. Huet</name><affiliation><mods:affiliation>Service de Pédiatrie 1, Hôpital d’Enfants, CHU Dijon, France</mods:affiliation></affiliation></author><author><name sortKey="Thauvin Obinet, C" sort="Thauvin Obinet, C" uniqKey="Thauvin Obinet C" first="C" last="Thauvin-Robinet">C. Thauvin-Robinet</name><affiliation><mods:affiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Clinical Genetics</title><idno type="ISSN">0009-9163</idno><idno type="eISSN">1399-0004</idno><imprint><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2010-03">2010-03</date><biblScope unit="volume">77</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="258">258</biblScope><biblScope unit="page" to="265">265</biblScope></imprint><idno type="ISSN">0009-9163</idno></series><idno type="istex">89994A96D303C43D1F002BFD2BA47297CF469A0B</idno><idno type="DOI">10.1111/j.1399-0004.2009.01290.x</idno><idno type="ArticleID">CGE1290</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0009-9163</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>OFD 1</term><term>polyaplic kidney disease</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns J‐P, Jouk P‐S, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel‐Paulet A, Mousson C, Gouyon J‐B, Huet F, Thauvin‐Robinet C. Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I. The oral‐facial‐digital syndrome type I (OFD I) is characterized by multiple congenital malformations of the face, oral cavity and digits. A polycystic kidney disease (PKD) is found in about one‐third of patients but long‐term outcome and complications are not well described in the international literature. Renal findings have been retrospectively collected in a cohort of 34 females all carrying a pathogenic mutation in the OFD1 gene with ages ranging from 1 to 65 years. Twelve patients presented with PKD – 11/16 (69%) if only adults were considered –with a median age at diagnosis of 29 years [IQR (interquartile range) = (23.5–38)]. Among them, 10 also presented with renal impairment and 6 were grafted (median age = 38 years [IQR = (25–48)]. One grafted patient under immunosuppressive treatment died from a tumor originated from a native kidney. The probability to develop renal failure was estimated to be more than 50% after the age of 36 years. Besides, neither genotype‐phenotype correlation nor clinical predictive association with renal failure could be evidenced. These data reveal an unsuspected high incidence rate of the renal impairment outcome in OFD I syndrome. A systematic ultrasound (US) and renal function follow‐up is therefore highly recommended for all OFD I patients.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>S Saal</name><affiliations><json:string>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</json:string><json:string>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</json:string></affiliations></json:item><json:item><name>L Faivre</name><affiliations><json:string>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</json:string><json:string>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</json:string></affiliations></json:item><json:item><name>Bernard Aral</name><affiliations><json:string>Laboratoire de Génétique Moléculaire, Hôpital du Bocage, CHU Dijon, France</json:string></affiliations></json:item><json:item><name>N Gigot</name><affiliations><json:string>Laboratoire de Génétique Moléculaire, Hôpital du Bocage, CHU Dijon, France</json:string></affiliations></json:item><json:item><name>A Toutain</name><affiliations><json:string>Service de Génétique, CHU Tours, France</json:string></affiliations></json:item><json:item><name>L Van Maldergem</name><affiliations><json:string>Institut de Pathologie et de Génétique, Loverval, Belgium</json:string></affiliations></json:item><json:item><name>A Destree</name><affiliations><json:string>Institut de Pathologie et de Génétique, Loverval, Belgium</json:string></affiliations></json:item><json:item><name>I Maystadt</name><affiliations><json:string>Institut de Pathologie et de Génétique, Loverval, Belgium</json:string></affiliations></json:item><json:item><name>J‐P Cosyns</name><affiliations><json:string>Department of Pathology, Cliniques Universitaires Saint‐Luc, Université Catholique de Loverval, Loverval, Belgium</json:string></affiliations></json:item><json:item><name>P‐S Jouk</name><affiliations><json:string>Service de Génétique, CHU Grenoble, France</json:string></affiliations></json:item><json:item><name>B Loeys</name><affiliations><json:string>Centre de Génétique Médicale, Ghent, Belgium</json:string></affiliations></json:item><json:item><name>D Chauveau</name><affiliations><json:string>Service de Néphrologie, Immunologie Clinique, CHU Hôpital Rangueil, Toulouse, France</json:string></affiliations></json:item><json:item><name>E Bieth</name><affiliations><json:string>Laboratoire de Génétique, CHU Purpan, Toulouse, France</json:string></affiliations></json:item><json:item><name>V Layet</name><affiliations><json:string>Unité de Cytogénétique et Génétique médicale, CH Le Havre, France</json:string></affiliations></json:item><json:item><name>M Mathieu</name><affiliations><json:string>Centre de référence, Anomalies du Développement et Syndromes Malformatifs, de la Région Nord, Département de Pédiatrie, Unité de Génétique Clinique, CHU Hôpital Nord, Amiens, France</json:string></affiliations></json:item><json:item><name>J Lespinasse</name><affiliations><json:string>Laboratoire de Génétique Chromosomique, CH Chambéry, France</json:string></affiliations></json:item><json:item><name>A Teebi</name><affiliations><json:string>Weill Cornell Medical College in Qatar, Qatar Foundation‐ Education City, Doha, Qatar</json:string></affiliations></json:item><json:item><name>B Franco</name><affiliations><json:string>Laboratorio di Ricerca, Telethon Institute of Genetics and Medicine (TIGEM), Napoli, Italy</json:string><json:string>Medical Genetic Services, Department of Pediatrics, Federico II University of Naples, Naples, Italy</json:string></affiliations></json:item><json:item><name>E Gautier</name><affiliations><json:string>Inserm, CIE1; Centre d’Investigation Clinique, Epidémiologie Clinique/Essais Cliniques, CHU Dijon, France</json:string></affiliations></json:item><json:item><name>C Binquet</name><affiliations><json:string>Inserm, CIE1; Centre d’Investigation Clinique, Epidémiologie Clinique/Essais Cliniques, CHU Dijon, France</json:string></affiliations></json:item><json:item><name>A Masurel‐Paulet</name><affiliations><json:string>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</json:string><json:string>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</json:string></affiliations></json:item><json:item><name>C Mousson</name><affiliations><json:string>Service de Néphrologie, Hôpital du Bocage, CHU Dijon, France</json:string></affiliations></json:item><json:item><name>J‐B Gouyon</name><affiliations><json:string>Service de Pédiatrie 2</json:string></affiliations></json:item><json:item><name>F Huet</name><affiliations><json:string>Service de Pédiatrie 1, Hôpital d’Enfants, CHU Dijon, France</json:string></affiliations></json:item><json:item><name>C Thauvin‐Robinet</name><affiliations><json:string>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</json:string><json:string>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>OFD 1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>polyaplic kidney disease</value></json:item></subject><articleId><json:string>CGE1290</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns J‐P, Jouk P‐S, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel‐Paulet A, Mousson C, Gouyon J‐B, Huet F, Thauvin‐Robinet C. Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I. The oral‐facial‐digital syndrome type I (OFD I) is characterized by multiple congenital malformations of the face, oral cavity and digits. A polycystic kidney disease (PKD) is found in about one‐third of patients but long‐term outcome and complications are not well described in the international literature. Renal findings have been retrospectively collected in a cohort of 34 females all carrying a pathogenic mutation in the OFD1 gene with ages ranging from 1 to 65 years. Twelve patients presented with PKD – 11/16 (69%) if only adults were considered –with a median age at diagnosis of 29 years [IQR (interquartile range) = (23.5–38)]. Among them, 10 also presented with renal impairment and 6 were grafted (median age = 38 years [IQR = (25–48)]. One grafted patient under immunosuppressive treatment died from a tumor originated from a native kidney. The probability to develop renal failure was estimated to be more than 50% after the age of 36 years. Besides, neither genotype‐phenotype correlation nor clinical predictive association with renal failure could be evidenced. These data reveal an unsuspected high incidence rate of the renal impairment outcome in OFD I syndrome. A systematic ultrasound (US) and renal function follow‐up is therefore highly recommended for all OFD I patients.</abstract><qualityIndicators><score>6.979</score><pdfVersion>1.3</pdfVersion><pdfPageSize>595.276 x 782.362 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>2</keywordCount><abstractCharCount>1674</abstractCharCount><pdfWordCount>3979</pdfWordCount><pdfCharCount>24872</pdfCharCount><pdfPageCount>8</pdfPageCount><abstractWordCount>266</abstractWordCount></qualityIndicators><title>Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type 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I</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><availability><p>© 2009 John Wiley & Sons A/S</p></availability><date>2010</date></publicationStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I</title><author xml:id="author-1"><persName><forename type="first">S</forename><surname>Saal</surname></persName><affiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</affiliation><affiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</affiliation></author><author xml:id="author-2"><persName><forename type="first">L</forename><surname>Faivre</surname></persName><affiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</affiliation><affiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</affiliation></author><author xml:id="author-3"><persName><forename type="first">Bernard</forename><surname>Aral</surname></persName><affiliation>Laboratoire de Génétique Moléculaire, Hôpital du Bocage, CHU Dijon, France</affiliation></author><author xml:id="author-4"><persName><forename type="first">N</forename><surname>Gigot</surname></persName><affiliation>Laboratoire de Génétique Moléculaire, Hôpital du Bocage, CHU Dijon, France</affiliation></author><author xml:id="author-5"><persName><forename type="first">A</forename><surname>Toutain</surname></persName><affiliation>Service de Génétique, CHU Tours, France</affiliation></author><author xml:id="author-6"><persName><forename type="first">L</forename><surname>Van Maldergem</surname></persName><affiliation>Institut de Pathologie et de Génétique, Loverval, Belgium</affiliation></author><author xml:id="author-7"><persName><forename type="first">A</forename><surname>Destree</surname></persName><affiliation>Institut de Pathologie et de Génétique, Loverval, Belgium</affiliation></author><author xml:id="author-8"><persName><forename type="first">I</forename><surname>Maystadt</surname></persName><affiliation>Institut de Pathologie et de Génétique, Loverval, Belgium</affiliation></author><author xml:id="author-9"><persName><forename type="first">J‐P</forename><surname>Cosyns</surname></persName><affiliation>Department of Pathology, Cliniques Universitaires Saint‐Luc, Université Catholique de Loverval, Loverval, Belgium</affiliation></author><author xml:id="author-10"><persName><forename type="first">P‐S</forename><surname>Jouk</surname></persName><affiliation>Service de Génétique, CHU Grenoble, France</affiliation></author><author xml:id="author-11"><persName><forename type="first">B</forename><surname>Loeys</surname></persName><affiliation>Centre de Génétique Médicale, Ghent, Belgium</affiliation></author><author xml:id="author-12"><persName><forename type="first">D</forename><surname>Chauveau</surname></persName><affiliation>Service de Néphrologie, Immunologie Clinique, CHU Hôpital Rangueil, Toulouse, France</affiliation></author><author xml:id="author-13"><persName><forename type="first">E</forename><surname>Bieth</surname></persName><affiliation>Laboratoire de Génétique, CHU Purpan, Toulouse, France</affiliation></author><author xml:id="author-14"><persName><forename type="first">V</forename><surname>Layet</surname></persName><affiliation>Unité de Cytogénétique et Génétique médicale, CH Le Havre, France</affiliation></author><author xml:id="author-15"><persName><forename type="first">M</forename><surname>Mathieu</surname></persName><affiliation>Centre de référence, Anomalies du Développement et Syndromes Malformatifs, de la Région Nord, Département de Pédiatrie, Unité de Génétique Clinique, CHU Hôpital Nord, Amiens, France</affiliation></author><author xml:id="author-16"><persName><forename type="first">J</forename><surname>Lespinasse</surname></persName><affiliation>Laboratoire de Génétique Chromosomique, CH Chambéry, France</affiliation></author><author xml:id="author-17"><persName><forename type="first">A</forename><surname>Teebi</surname></persName><affiliation>Weill Cornell Medical College in Qatar, Qatar Foundation‐ Education City, Doha, Qatar</affiliation></author><author xml:id="author-18"><persName><forename type="first">B</forename><surname>Franco</surname></persName><affiliation>Laboratorio di Ricerca, Telethon Institute of Genetics and Medicine (TIGEM), Napoli, Italy</affiliation><affiliation>Medical Genetic Services, Department of Pediatrics, Federico II University of Naples, Naples, Italy</affiliation></author><author xml:id="author-19"><persName><forename type="first">E</forename><surname>Gautier</surname></persName><affiliation>Inserm, CIE1; Centre d’Investigation Clinique, Epidémiologie Clinique/Essais Cliniques, CHU Dijon, France</affiliation></author><author xml:id="author-20"><persName><forename type="first">C</forename><surname>Binquet</surname></persName><affiliation>Inserm, CIE1; Centre d’Investigation Clinique, Epidémiologie Clinique/Essais Cliniques, CHU Dijon, France</affiliation></author><author xml:id="author-21"><persName><forename type="first">A</forename><surname>Masurel‐Paulet</surname></persName><affiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</affiliation><affiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</affiliation></author><author xml:id="author-22"><persName><forename type="first">C</forename><surname>Mousson</surname></persName><affiliation>Service de Néphrologie, Hôpital du Bocage, CHU Dijon, France</affiliation></author><author xml:id="author-23"><persName><forename type="first">J‐B</forename><surname>Gouyon</surname></persName><affiliation>Service de Pédiatrie 2</affiliation></author><author xml:id="author-24"><persName><forename type="first">F</forename><surname>Huet</surname></persName><affiliation>Service de Pédiatrie 1, Hôpital d’Enfants, CHU Dijon, France</affiliation></author><author xml:id="author-25"><persName><forename type="first">C</forename><surname>Thauvin‐Robinet</surname></persName><note type="correspondence"><p>Correspondence: Christel Thauvin‐Robinet, MD, Centre de Génétique, Hôpital d'Enfants, 10 Bd maréchal de Lattre de Tassigny, 21034 Dijon cedex, France.Tel.: +33 3 80 29 53 13;fax: +33 3 80 29 32 66;e‐mail:</p></note><affiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</affiliation><affiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</affiliation></author></analytic><monogr><title level="j">Clinical Genetics</title><idno type="pISSN">0009-9163</idno><idno type="eISSN">1399-0004</idno><idno type="DOI">10.1111/(ISSN)1399-0004</idno><imprint><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2010-03"></date><biblScope unit="volume">77</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="258">258</biblScope><biblScope unit="page" to="265">265</biblScope></imprint></monogr><idno type="istex">89994A96D303C43D1F002BFD2BA47297CF469A0B</idno><idno type="DOI">10.1111/j.1399-0004.2009.01290.x</idno><idno type="ArticleID">CGE1290</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2010</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns J‐P, Jouk P‐S, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel‐Paulet A, Mousson C, Gouyon J‐B, Huet F, Thauvin‐Robinet C. Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I. The oral‐facial‐digital syndrome type I (OFD I) is characterized by multiple congenital malformations of the face, oral cavity and digits. A polycystic kidney disease (PKD) is found in about one‐third of patients but long‐term outcome and complications are not well described in the international literature. Renal findings have been retrospectively collected in a cohort of 34 females all carrying a pathogenic mutation in the OFD1 gene with ages ranging from 1 to 65 years. Twelve patients presented with PKD – 11/16 (69%) if only adults were considered –with a median age at diagnosis of 29 years [IQR (interquartile range) = (23.5–38)]. Among them, 10 also presented with renal impairment and 6 were grafted (median age = 38 years [IQR = (25–48)]. One grafted patient under immunosuppressive treatment died from a tumor originated from a native kidney. The probability to develop renal failure was estimated to be more than 50% after the age of 36 years. Besides, neither genotype‐phenotype correlation nor clinical predictive association with renal failure could be evidenced. These data reveal an unsuspected high incidence rate of the renal impairment outcome in OFD I syndrome. A systematic ultrasound (US) and renal function follow‐up is therefore highly recommended for all OFD I patients.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>keywords</head><item><term>OFD 1</term></item><item><term>polyaplic kidney disease</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2010-03">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/89994A96D303C43D1F002BFD2BA47297CF469A0B/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Blackwell Publishing Ltd</publisherName><publisherLoc>Oxford, UK</publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1399-0004</doi><issn type="print">0009-9163</issn><issn type="electronic">1399-0004</issn><idGroup><id type="product" value="CGE"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="CLINICAL GENETICS">Clinical Genetics</title></titleGroup></publicationMeta><publicationMeta level="part" position="03003"><doi origin="wiley">10.1111/cge.2010.77.issue-3</doi><numberingGroup><numbering type="journalVolume" number="77">77</numbering><numbering type="journalIssue" number="3">3</numbering></numberingGroup><coverDate startDate="2010-03">March 2010</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="10" status="forIssue"><doi origin="wiley">10.1111/j.1399-0004.2009.01290.x</doi><idGroup><id type="unit" value="CGE1290"></id></idGroup><countGroup><count type="pageTotal" number="8"></count></countGroup><titleGroup><title type="tocHeading1">Short Reports</title></titleGroup><copyright>© 2009 John Wiley & Sons A/S</copyright><eventGroup><event type="firstOnline" date="2009-10-08"></event><event type="publishedOnlineFinalForm" date="2010-02-23"></event><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:2.3.5 mode:FullText source:HeaderRef result:HeaderRef" date="2010-04-07"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-09"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-16"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="258">258</numbering><numbering type="pageLast" number="265">265</numbering></numberingGroup><correspondenceTo>Christel Thauvin‐Robinet, MD, Centre de Génétique, Hôpital d'Enfants, 10 Bd maréchal de Lattre de Tassigny, 21034 Dijon cedex, France.
Tel.: +33 3 80 29 53 13;
fax: +33 3 80 29 32 66;
e‐mail: <email normalForm="christel.thauvin@chu-dijon.fr">christel.thauvin@chu‐dijon.fr</email></correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:CGE.CGE1290.pdf"></link></linkGroup></publicationMeta><contentMeta><unparsedEditorialHistory>Received 19 May 2009, revised and accepted for publication 11 August 2009</unparsedEditorialHistory><countGroup><count type="figureTotal" number="5"></count><count type="tableTotal" number="1"></count><count type="formulaTotal" number="0"></count><count type="referenceTotal" number="26"></count></countGroup><titleGroup><title type="main">Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I</title><title type="shortAuthors">Saal et al.</title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#a1 #a2"><personName><givenNames>S</givenNames><familyName>Saal</familyName></personName></creator><creator creatorRole="author" xml:id="cr2" affiliationRef="#a1 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xml:id="a1" countryCode="FR"><unparsedAffiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</unparsedAffiliation></affiliation><affiliation xml:id="a2"><unparsedAffiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</unparsedAffiliation></affiliation><affiliation xml:id="a3" countryCode="FR"><unparsedAffiliation>Laboratoire de Génétique Moléculaire, Hôpital du Bocage, CHU Dijon, France</unparsedAffiliation></affiliation><affiliation xml:id="a4" countryCode="FR"><unparsedAffiliation>Service de Génétique, CHU Tours, France</unparsedAffiliation></affiliation><affiliation xml:id="a5" countryCode="BE"><unparsedAffiliation>Institut de Pathologie et de Génétique, Loverval, Belgium</unparsedAffiliation></affiliation><affiliation xml:id="a6" countryCode="BE"><unparsedAffiliation>Department of Pathology, Cliniques Universitaires Saint‐Luc, Université Catholique de Loverval, Loverval, Belgium</unparsedAffiliation></affiliation><affiliation xml:id="a7" countryCode="FR"><unparsedAffiliation>Service de Génétique, CHU Grenoble, France</unparsedAffiliation></affiliation><affiliation xml:id="a8" countryCode="BE"><unparsedAffiliation>Centre de Génétique Médicale, Ghent, Belgium</unparsedAffiliation></affiliation><affiliation xml:id="a9" countryCode="FR"><unparsedAffiliation>Service de Néphrologie, Immunologie Clinique, CHU Hôpital Rangueil, Toulouse, France</unparsedAffiliation></affiliation><affiliation xml:id="a10" countryCode="FR"><unparsedAffiliation>Laboratoire de Génétique, CHU Purpan, Toulouse, France</unparsedAffiliation></affiliation><affiliation xml:id="a11" countryCode="FR"><unparsedAffiliation>Unité de Cytogénétique et Génétique médicale, CH Le Havre, France</unparsedAffiliation></affiliation><affiliation xml:id="a12"><unparsedAffiliation>Centre de référence, Anomalies du Développement et Syndromes Malformatifs, de la Région Nord, Département de Pédiatrie, Unité de Génétique Clinique, CHU Hôpital Nord, Amiens, France</unparsedAffiliation></affiliation><affiliation xml:id="a13" countryCode="FR"><unparsedAffiliation>Laboratoire de Génétique Chromosomique, CH Chambéry, France</unparsedAffiliation></affiliation><affiliation xml:id="a14" countryCode="QA"><unparsedAffiliation>Weill Cornell Medical College in Qatar, Qatar Foundation‐ Education City, Doha, Qatar</unparsedAffiliation></affiliation><affiliation xml:id="a15" countryCode="IT"><unparsedAffiliation>Laboratorio di Ricerca, Telethon Institute of Genetics and Medicine (TIGEM), Napoli, Italy</unparsedAffiliation></affiliation><affiliation xml:id="a16" countryCode="IT"><unparsedAffiliation>Medical Genetic Services, Department of Pediatrics, Federico II University of Naples, Naples, Italy</unparsedAffiliation></affiliation><affiliation xml:id="a17" countryCode="FR"><unparsedAffiliation>Inserm, CIE1; Centre d’Investigation Clinique, Epidémiologie Clinique/Essais Cliniques, CHU Dijon, France</unparsedAffiliation></affiliation><affiliation xml:id="a18" countryCode="FR"><unparsedAffiliation>Service de Néphrologie, Hôpital du Bocage, CHU Dijon, France</unparsedAffiliation></affiliation><affiliation xml:id="a19"><unparsedAffiliation>Service de Pédiatrie 2</unparsedAffiliation></affiliation><affiliation xml:id="a20" countryCode="FR"><unparsedAffiliation>Service de Pédiatrie 1, Hôpital d’Enfants, CHU Dijon, France</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en"><keyword xml:id="k1">OFD 1</keyword><keyword xml:id="k2">polyaplic kidney disease</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><p>Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns J‐P, Jouk P‐S, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel‐Paulet A, Mousson C, Gouyon J‐B, Huet F, Thauvin‐Robinet C. Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I.</p><p>The oral‐facial‐digital syndrome type I (OFD I) is characterized by multiple congenital malformations of the face, oral cavity and digits. A polycystic kidney disease (PKD) is found in about one‐third of patients but long‐term outcome and complications are not well described in the international literature. Renal findings have been retrospectively collected in a cohort of 34 females all carrying a pathogenic mutation in the <i>OFD1</i> gene with ages ranging from 1 to 65 years. Twelve patients presented with PKD – 11/16 (69%) if only adults were considered –with a median age at diagnosis of 29 years [IQR (interquartile range) = (23.5–38)]. Among them, 10 also presented with renal impairment and 6 were grafted (median age = 38 years [IQR = (25–48)]. One grafted patient under immunosuppressive treatment died from a tumor originated from a native kidney. The probability to develop renal failure was estimated to be more than 50% after the age of 36 years. Besides, neither genotype‐phenotype correlation nor clinical predictive association with renal failure could be evidenced. These data reveal an unsuspected high incidence rate of the renal impairment outcome in OFD I syndrome. A systematic ultrasound (US) and renal function follow‐up is therefore highly recommended for all OFD I patients.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I</title></titleInfo><name type="personal"><namePart type="given">S</namePart><namePart type="family">Saal</namePart><affiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</affiliation><affiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">L</namePart><namePart type="family">Faivre</namePart><affiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</affiliation><affiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Bernard</namePart><namePart type="family">Aral</namePart><affiliation>Laboratoire de Génétique Moléculaire, Hôpital du Bocage, CHU Dijon, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">N</namePart><namePart type="family">Gigot</namePart><affiliation>Laboratoire de Génétique Moléculaire, Hôpital du Bocage, CHU Dijon, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A</namePart><namePart type="family">Toutain</namePart><affiliation>Service de Génétique, CHU Tours, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">L</namePart><namePart type="family">Van Maldergem</namePart><affiliation>Institut de Pathologie et de Génétique, Loverval, Belgium</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A</namePart><namePart type="family">Destree</namePart><affiliation>Institut de Pathologie et de Génétique, Loverval, Belgium</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">I</namePart><namePart type="family">Maystadt</namePart><affiliation>Institut de Pathologie et de Génétique, Loverval, Belgium</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J‐P</namePart><namePart type="family">Cosyns</namePart><affiliation>Department of Pathology, Cliniques Universitaires Saint‐Luc, Université Catholique de Loverval, Loverval, Belgium</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">P‐S</namePart><namePart type="family">Jouk</namePart><affiliation>Service de Génétique, CHU Grenoble, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">B</namePart><namePart type="family">Loeys</namePart><affiliation>Centre de Génétique Médicale, Ghent, Belgium</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">D</namePart><namePart type="family">Chauveau</namePart><affiliation>Service de Néphrologie, Immunologie Clinique, CHU Hôpital Rangueil, Toulouse, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">E</namePart><namePart type="family">Bieth</namePart><affiliation>Laboratoire de Génétique, CHU Purpan, Toulouse, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">V</namePart><namePart type="family">Layet</namePart><affiliation>Unité de Cytogénétique et Génétique médicale, CH Le Havre, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M</namePart><namePart type="family">Mathieu</namePart><affiliation>Centre de référence, Anomalies du Développement et Syndromes Malformatifs, de la Région Nord, Département de Pédiatrie, Unité de Génétique Clinique, CHU Hôpital Nord, Amiens, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J</namePart><namePart type="family">Lespinasse</namePart><affiliation>Laboratoire de Génétique Chromosomique, CH Chambéry, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A</namePart><namePart type="family">Teebi</namePart><affiliation>Weill Cornell Medical College in Qatar, Qatar Foundation‐ Education City, Doha, Qatar</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">B</namePart><namePart type="family">Franco</namePart><affiliation>Laboratorio di Ricerca, Telethon Institute of Genetics and Medicine (TIGEM), Napoli, Italy</affiliation><affiliation>Medical Genetic Services, Department of Pediatrics, Federico II University of Naples, Naples, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">E</namePart><namePart type="family">Gautier</namePart><affiliation>Inserm, CIE1; Centre d’Investigation Clinique, Epidémiologie Clinique/Essais Cliniques, CHU Dijon, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">C</namePart><namePart type="family">Binquet</namePart><affiliation>Inserm, CIE1; Centre d’Investigation Clinique, Epidémiologie Clinique/Essais Cliniques, CHU Dijon, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A</namePart><namePart type="family">Masurel‐Paulet</namePart><affiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</affiliation><affiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">C</namePart><namePart type="family">Mousson</namePart><affiliation>Service de Néphrologie, Hôpital du Bocage, CHU Dijon, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J‐B</namePart><namePart type="family">Gouyon</namePart><affiliation>Service de Pédiatrie 2</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">F</namePart><namePart type="family">Huet</namePart><affiliation>Service de Pédiatrie 1, Hôpital d’Enfants, CHU Dijon, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">C</namePart><namePart type="family">Thauvin‐Robinet</namePart><affiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</affiliation><affiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</affiliation><description>Correspondence: Christel Thauvin‐Robinet, MD, Centre de Génétique, Hôpital d'Enfants, 10 Bd maréchal de Lattre de Tassigny, 21034 Dijon cedex, France.Tel.: +33 3 80 29 53 13;fax: +33 3 80 29 32 66;e‐mail: </description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Blackwell Publishing Ltd</publisher><place><placeTerm type="text">Oxford, UK</placeTerm></place><dateIssued encoding="w3cdtf">2010-03</dateIssued><edition>Received 19 May 2009, revised and accepted for publication 11 August 2009</edition><copyrightDate encoding="w3cdtf">2010</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">5</extent><extent unit="tables">1</extent><extent unit="references">26</extent></physicalDescription><abstract lang="en">Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns J‐P, Jouk P‐S, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel‐Paulet A, Mousson C, Gouyon J‐B, Huet F, Thauvin‐Robinet C. Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I. The oral‐facial‐digital syndrome type I (OFD I) is characterized by multiple congenital malformations of the face, oral cavity and digits. A polycystic kidney disease (PKD) is found in about one‐third of patients but long‐term outcome and complications are not well described in the international literature. Renal findings have been retrospectively collected in a cohort of 34 females all carrying a pathogenic mutation in the OFD1 gene with ages ranging from 1 to 65 years. Twelve patients presented with PKD – 11/16 (69%) if only adults were considered –with a median age at diagnosis of 29 years [IQR (interquartile range) = (23.5–38)]. Among them, 10 also presented with renal impairment and 6 were grafted (median age = 38 years [IQR = (25–48)]. One grafted patient under immunosuppressive treatment died from a tumor originated from a native kidney. The probability to develop renal failure was estimated to be more than 50% after the age of 36 years. Besides, neither genotype‐phenotype correlation nor clinical predictive association with renal failure could be evidenced. These data reveal an unsuspected high incidence rate of the renal impairment outcome in OFD I syndrome. A systematic ultrasound (US) and renal function follow‐up is therefore highly recommended for all OFD I patients.</abstract><subject lang="en"><genre>keywords</genre><topic>OFD 1</topic><topic>polyaplic kidney disease</topic></subject><relatedItem type="host"><titleInfo><title>Clinical Genetics</title></titleInfo><genre type="journal">journal</genre><identifier type="ISSN">0009-9163</identifier><identifier type="eISSN">1399-0004</identifier><identifier type="DOI">10.1111/(ISSN)1399-0004</identifier><identifier type="PublisherID">CGE</identifier><part><date>2010</date><detail type="volume"><caption>vol.</caption><number>77</number></detail><detail type="issue"><caption>no.</caption><number>3</number></detail><extent unit="pages"><start>258</start><end>265</end><total>8</total></extent></part></relatedItem><identifier type="istex">89994A96D303C43D1F002BFD2BA47297CF469A0B</identifier><identifier type="DOI">10.1111/j.1399-0004.2009.01290.x</identifier><identifier type="ArticleID">CGE1290</identifier><accessCondition type="use and reproduction" contentType="copyright">© 2009 John Wiley & Sons A/S</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Blackwell Publishing Ltd</recordOrigin></recordInfo></mods></metadata><enrichments><json:item><type>multicat</type><uri>https://api.istex.fr/document/89994A96D303C43D1F002BFD2BA47297CF469A0B/enrichments/multicat</uri></json:item></enrichments><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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