Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I
Identifieur interne : 000D14 ( Istex/Curation ); précédent : 000D13; suivant : 000D15Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I
Auteurs : S. Saal [France] ; L. Faivre [France] ; Bernard Aral [France] ; N. Gigot [France] ; A. Toutain [France] ; L. Van Maldergem [Belgique] ; A. Destree [Belgique] ; I. Maystadt [Belgique] ; J-P Cosyns [Belgique] ; P-S Jouk [France] ; B. Loeys [Belgique] ; D. Chauveau [France] ; E. Bieth [France] ; V. Layet [France] ; M. Mathieu [France] ; J. Lespinasse [France] ; A. Teebi [Qatar] ; B. Franco [Italie] ; E. Gautier [France] ; C. Binquet [France] ; A. Masurel-Paulet [France] ; C. Mousson [France] ; J-B Gouyon ; F. Huet [France] ; C. Thauvin-Robinet [France]Source :
- 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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Saal</name><affiliation wicri:level="1"><mods:affiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique, Hôpital d’Enfants, CHU Dijon</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est</wicri:regionArea></affiliation></author><author><name sortKey="Faivre, L" sort="Faivre, L" uniqKey="Faivre L" first="L" last="Faivre">L. 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Lespinasse</name><affiliation wicri:level="1"><mods:affiliation>Laboratoire de Génétique Chromosomique, CH Chambéry, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique Chromosomique, CH Chambéry</wicri:regionArea></affiliation></author><author><name sortKey="Teebi, A" sort="Teebi, A" uniqKey="Teebi A" first="A" last="Teebi">A. Teebi</name><affiliation wicri:level="1"><mods:affiliation>Weill Cornell Medical College in Qatar, Qatar Foundation‐ Education City, Doha, Qatar</mods:affiliation><country xml:lang="fr">Qatar</country><wicri:regionArea>Weill Cornell Medical College in Qatar, Qatar Foundation‐ Education City, Doha</wicri:regionArea></affiliation></author><author><name sortKey="Franco, B" sort="Franco, B" uniqKey="Franco B" first="B" last="Franco">B. Franco</name><affiliation wicri:level="1"><mods:affiliation>Laboratorio di Ricerca, Telethon Institute of Genetics and Medicine (TIGEM), Napoli, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratorio di Ricerca, Telethon Institute of Genetics and Medicine (TIGEM), Napoli</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Medical Genetic Services, Department of Pediatrics, Federico II University of Naples, Naples, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetic Services, Department of Pediatrics, Federico II University of Naples, Naples</wicri:regionArea></affiliation></author><author><name sortKey="Gautier, E" sort="Gautier, E" uniqKey="Gautier E" first="E" last="Gautier">E. Gautier</name><affiliation wicri:level="1"><mods:affiliation>Inserm, CIE1; Centre d’Investigation Clinique, Epidémiologie Clinique/Essais Cliniques, CHU Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Inserm, CIE1; Centre d’Investigation Clinique, Epidémiologie Clinique/Essais Cliniques, CHU Dijon</wicri:regionArea></affiliation></author><author><name sortKey="Binquet, C" sort="Binquet, C" uniqKey="Binquet C" first="C" last="Binquet">C. Binquet</name><affiliation wicri:level="1"><mods:affiliation>Inserm, CIE1; Centre d’Investigation Clinique, Epidémiologie Clinique/Essais Cliniques, CHU Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Inserm, CIE1; Centre d’Investigation Clinique, Epidémiologie Clinique/Essais Cliniques, CHU Dijon</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique, Hôpital d’Enfants, CHU Dijon</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est</wicri:regionArea></affiliation></author><author><name sortKey="Mousson, C" sort="Mousson, C" uniqKey="Mousson C" first="C" last="Mousson">C. Mousson</name><affiliation wicri:level="1"><mods:affiliation>Service de Néphrologie, Hôpital du Bocage, CHU Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Néphrologie, Hôpital du Bocage, CHU Dijon</wicri:regionArea></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><wicri:noCountry code="no comma">Service de Pédiatrie 2</wicri:noCountry></affiliation></author><author><name sortKey="Huet, F" sort="Huet, F" uniqKey="Huet F" first="F" last="Huet">F. Huet</name><affiliation wicri:level="1"><mods:affiliation>Service de Pédiatrie 1, Hôpital d’Enfants, CHU Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Pédiatrie 1, Hôpital d’Enfants, CHU Dijon</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique, Hôpital d’Enfants, CHU Dijon</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est</wicri:regionArea></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><idno type="wicri:Area/Istex/Curation">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 wicri:level="1"><mods:affiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique, Hôpital d’Enfants, CHU Dijon</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est</wicri:regionArea></affiliation></author><author><name sortKey="Faivre, L" sort="Faivre, L" uniqKey="Faivre L" first="L" last="Faivre">L. Faivre</name><affiliation wicri:level="1"><mods:affiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique, Hôpital d’Enfants, CHU Dijon</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est</wicri:regionArea></affiliation></author><author><name sortKey="Aral, Bernard" sort="Aral, Bernard" uniqKey="Aral B" first="Bernard" last="Aral">Bernard Aral</name><affiliation wicri:level="1"><mods:affiliation>Laboratoire de Génétique Moléculaire, Hôpital du Bocage, CHU Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique Moléculaire, Hôpital du Bocage, CHU Dijon</wicri:regionArea></affiliation></author><author><name sortKey="Gigot, N" sort="Gigot, N" uniqKey="Gigot N" first="N" last="Gigot">N. Gigot</name><affiliation wicri:level="1"><mods:affiliation>Laboratoire de Génétique Moléculaire, Hôpital du Bocage, CHU Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique Moléculaire, Hôpital du Bocage, CHU Dijon</wicri:regionArea></affiliation></author><author><name sortKey="Toutain, A" sort="Toutain, A" uniqKey="Toutain A" first="A" last="Toutain">A. Toutain</name><affiliation wicri:level="1"><mods:affiliation>Service de Génétique, CHU Tours, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, CHU Tours</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Institut de Pathologie et de Génétique, Loverval, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Institut de Pathologie et de Génétique, Loverval</wicri:regionArea></affiliation></author><author><name sortKey="Destree, A" sort="Destree, A" uniqKey="Destree A" first="A" last="Destree">A. Destree</name><affiliation wicri:level="1"><mods:affiliation>Institut de Pathologie et de Génétique, Loverval, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Institut de Pathologie et de Génétique, Loverval</wicri:regionArea></affiliation></author><author><name sortKey="Maystadt, I" sort="Maystadt, I" uniqKey="Maystadt I" first="I" last="Maystadt">I. Maystadt</name><affiliation wicri:level="1"><mods:affiliation>Institut de Pathologie et de Génétique, Loverval, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Institut de Pathologie et de Génétique, Loverval</wicri:regionArea></affiliation></author><author><name sortKey="Cosyns, J" sort="Cosyns, J" uniqKey="Cosyns J" first="J-P" last="Cosyns">J-P Cosyns</name><affiliation wicri:level="1"><mods:affiliation>Department of Pathology, Cliniques Universitaires Saint‐Luc, Université Catholique de Loverval, Loverval, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Pathology, Cliniques Universitaires Saint‐Luc, Université Catholique de Loverval, Loverval</wicri:regionArea></affiliation></author><author><name sortKey="Jouk, P" sort="Jouk, P" uniqKey="Jouk P" first="P-S" last="Jouk">P-S Jouk</name><affiliation wicri:level="1"><mods:affiliation>Service de Génétique, CHU Grenoble, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, CHU Grenoble</wicri:regionArea></affiliation></author><author><name sortKey="Loeys, B" sort="Loeys, B" uniqKey="Loeys B" first="B" last="Loeys">B. Loeys</name><affiliation wicri:level="1"><mods:affiliation>Centre de Génétique Médicale, Ghent, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Centre de Génétique Médicale, Ghent</wicri:regionArea></affiliation></author><author><name sortKey="Chauveau, D" sort="Chauveau, D" uniqKey="Chauveau D" first="D" last="Chauveau">D. Chauveau</name><affiliation wicri:level="1"><mods:affiliation>Service de Néphrologie, Immunologie Clinique, CHU Hôpital Rangueil, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Néphrologie, Immunologie Clinique, CHU Hôpital Rangueil, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Bieth, E" sort="Bieth, E" uniqKey="Bieth E" first="E" last="Bieth">E. Bieth</name><affiliation wicri:level="1"><mods:affiliation>Laboratoire de Génétique, CHU Purpan, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique, CHU Purpan, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Layet, V" sort="Layet, V" uniqKey="Layet V" first="V" last="Layet">V. Layet</name><affiliation wicri:level="1"><mods:affiliation>Unité de Cytogénétique et Génétique médicale, CH Le Havre, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Unité de Cytogénétique et Génétique médicale, CH Le Havre</wicri:regionArea></affiliation></author><author><name sortKey="Mathieu, M" sort="Mathieu, M" uniqKey="Mathieu M" first="M" last="Mathieu">M. Mathieu</name><affiliation wicri:level="1"><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><country xml:lang="fr">France</country><wicri:regionArea>Centre de référence, Anomalies du Développement et Syndromes Malformatifs, de la Région Nord, Département de Pédiatrie, Unité de Génétique Clinique, CHU Hôpital Nord, Amiens</wicri:regionArea></affiliation></author><author><name sortKey="Lespinasse, J" sort="Lespinasse, J" uniqKey="Lespinasse J" first="J" last="Lespinasse">J. Lespinasse</name><affiliation wicri:level="1"><mods:affiliation>Laboratoire de Génétique Chromosomique, CH Chambéry, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique Chromosomique, CH Chambéry</wicri:regionArea></affiliation></author><author><name sortKey="Teebi, A" sort="Teebi, A" uniqKey="Teebi A" first="A" last="Teebi">A. Teebi</name><affiliation wicri:level="1"><mods:affiliation>Weill Cornell Medical College in Qatar, Qatar Foundation‐ Education City, Doha, Qatar</mods:affiliation><country xml:lang="fr">Qatar</country><wicri:regionArea>Weill Cornell Medical College in Qatar, Qatar Foundation‐ Education City, Doha</wicri:regionArea></affiliation></author><author><name sortKey="Franco, B" sort="Franco, B" uniqKey="Franco B" first="B" last="Franco">B. Franco</name><affiliation wicri:level="1"><mods:affiliation>Laboratorio di Ricerca, Telethon Institute of Genetics and Medicine (TIGEM), Napoli, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratorio di Ricerca, Telethon Institute of Genetics and Medicine (TIGEM), Napoli</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Medical Genetic Services, Department of Pediatrics, Federico II University of Naples, Naples, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetic Services, Department of Pediatrics, Federico II University of Naples, Naples</wicri:regionArea></affiliation></author><author><name sortKey="Gautier, E" sort="Gautier, E" uniqKey="Gautier E" first="E" last="Gautier">E. Gautier</name><affiliation wicri:level="1"><mods:affiliation>Inserm, CIE1; Centre d’Investigation Clinique, Epidémiologie Clinique/Essais Cliniques, CHU Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Inserm, CIE1; Centre d’Investigation Clinique, Epidémiologie Clinique/Essais Cliniques, CHU Dijon</wicri:regionArea></affiliation></author><author><name sortKey="Binquet, C" sort="Binquet, C" uniqKey="Binquet C" first="C" last="Binquet">C. Binquet</name><affiliation wicri:level="1"><mods:affiliation>Inserm, CIE1; Centre d’Investigation Clinique, Epidémiologie Clinique/Essais Cliniques, CHU Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Inserm, CIE1; Centre d’Investigation Clinique, Epidémiologie Clinique/Essais Cliniques, CHU Dijon</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique, Hôpital d’Enfants, CHU Dijon</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est</wicri:regionArea></affiliation></author><author><name sortKey="Mousson, C" sort="Mousson, C" uniqKey="Mousson C" first="C" last="Mousson">C. Mousson</name><affiliation wicri:level="1"><mods:affiliation>Service de Néphrologie, Hôpital du Bocage, CHU Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Néphrologie, Hôpital du Bocage, CHU Dijon</wicri:regionArea></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><wicri:noCountry code="no comma">Service de Pédiatrie 2</wicri:noCountry></affiliation></author><author><name sortKey="Huet, F" sort="Huet, F" uniqKey="Huet F" first="F" last="Huet">F. Huet</name><affiliation wicri:level="1"><mods:affiliation>Service de Pédiatrie 1, Hôpital d’Enfants, CHU Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Pédiatrie 1, Hôpital d’Enfants, CHU Dijon</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Centre de Génétique, Hôpital d’Enfants, CHU Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique, Hôpital d’Enfants, CHU Dijon</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Références Maladies Rares, Anomalies du Développement Embryonnaire et Syndromes Malformatifs, de la Région Grand Est</wicri:regionArea></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></record>Pour manipuler ce document sous Unix (Dilib)
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