Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I
Identifieur interne : 000817 ( France/Analysis ); précédent : 000816; suivant : 000818Renal 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
Affiliations:
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Gautier</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Inserm, CIE1; Centre d’Investigation Clinique, Epidémiologie Clinique/Essais Cliniques, CHU Dijon</wicri:regionArea><wicri:noRegion>CHU Dijon</wicri:noRegion><wicri:noRegion>CHU Dijon</wicri:noRegion></affiliation></author><author><name sortKey="Binquet, C" sort="Binquet, C" uniqKey="Binquet C" first="C" last="Binquet">C. Binquet</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Inserm, CIE1; Centre d’Investigation Clinique, Epidémiologie Clinique/Essais Cliniques, CHU Dijon</wicri:regionArea><wicri:noRegion>CHU Dijon</wicri:noRegion><wicri:noRegion>CHU Dijon</wicri:noRegion></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"><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique, Hôpital d’Enfants, CHU Dijon</wicri:regionArea><wicri:noRegion>CHU Dijon</wicri:noRegion><wicri:noRegion>CHU Dijon</wicri:noRegion></affiliation><affiliation wicri:level="1"><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><wicri:noRegion>de la Région Grand Est</wicri:noRegion><wicri:noRegion>de la Région Grand Est</wicri:noRegion></affiliation></author><author><name sortKey="Mousson, C" sort="Mousson, C" uniqKey="Mousson C" first="C" last="Mousson">C. Mousson</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service de Néphrologie, Hôpital du Bocage, CHU Dijon</wicri:regionArea><wicri:noRegion>CHU Dijon</wicri:noRegion><wicri:noRegion>CHU Dijon</wicri:noRegion></affiliation></author><author><name sortKey="Gouyon, J" sort="Gouyon, J" uniqKey="Gouyon J" first="J-B" last="Gouyon">J-B Gouyon</name><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"><country xml:lang="fr">France</country><wicri:regionArea>Service de Pédiatrie 1, Hôpital d’Enfants, CHU Dijon</wicri:regionArea><wicri:noRegion>CHU Dijon</wicri:noRegion><wicri:noRegion>CHU Dijon</wicri:noRegion></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"><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique, Hôpital d’Enfants, CHU Dijon</wicri:regionArea><wicri:noRegion>CHU Dijon</wicri:noRegion><wicri:noRegion>CHU Dijon</wicri:noRegion></affiliation><affiliation wicri:level="1"><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><wicri:noRegion>de la Région Grand Est</wicri:noRegion><wicri:noRegion>de la Région Grand Est</wicri:noRegion></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><affiliations><list><country><li>Belgique</li><li>France</li><li>Italie</li><li>Qatar</li></country><settlement><li>Amiens</li><li>Toulouse</li></settlement></list><tree><noCountry><name sortKey="Gouyon, J" sort="Gouyon, J" uniqKey="Gouyon J" first="J-B" last="Gouyon">J-B Gouyon</name></noCountry><country name="France"><noRegion><name sortKey="Saal, S" sort="Saal, S" uniqKey="Saal S" first="S" last="Saal">S. Saal</name></noRegion><name sortKey="Aral, Bernard" sort="Aral, Bernard" uniqKey="Aral B" first="Bernard" last="Aral">Bernard Aral</name><name sortKey="Bieth, E" sort="Bieth, E" uniqKey="Bieth E" first="E" last="Bieth">E. Bieth</name><name sortKey="Binquet, C" sort="Binquet, C" uniqKey="Binquet C" first="C" last="Binquet">C. Binquet</name><name sortKey="Chauveau, D" sort="Chauveau, D" uniqKey="Chauveau D" first="D" last="Chauveau">D. Chauveau</name><name sortKey="Faivre, L" sort="Faivre, L" uniqKey="Faivre L" first="L" last="Faivre">L. Faivre</name><name sortKey="Faivre, L" sort="Faivre, L" uniqKey="Faivre L" first="L" last="Faivre">L. Faivre</name><name sortKey="Gautier, E" sort="Gautier, E" uniqKey="Gautier E" first="E" last="Gautier">E. Gautier</name><name sortKey="Gigot, N" sort="Gigot, N" uniqKey="Gigot N" first="N" last="Gigot">N. Gigot</name><name sortKey="Huet, F" sort="Huet, F" uniqKey="Huet F" first="F" last="Huet">F. Huet</name><name sortKey="Jouk, P" sort="Jouk, P" uniqKey="Jouk P" first="P-S" last="Jouk">P-S Jouk</name><name sortKey="Layet, V" sort="Layet, V" uniqKey="Layet V" first="V" last="Layet">V. Layet</name><name sortKey="Lespinasse, J" sort="Lespinasse, J" uniqKey="Lespinasse J" first="J" last="Lespinasse">J. Lespinasse</name><name sortKey="Masurel Aulet, A" sort="Masurel Aulet, A" uniqKey="Masurel Aulet A" first="A" last="Masurel-Paulet">A. Masurel-Paulet</name><name sortKey="Masurel Aulet, A" sort="Masurel Aulet, A" uniqKey="Masurel Aulet A" first="A" last="Masurel-Paulet">A. Masurel-Paulet</name><name sortKey="Mathieu, M" sort="Mathieu, M" uniqKey="Mathieu M" first="M" last="Mathieu">M. Mathieu</name><name sortKey="Mousson, C" sort="Mousson, C" uniqKey="Mousson C" first="C" last="Mousson">C. Mousson</name><name sortKey="Saal, S" sort="Saal, S" uniqKey="Saal S" first="S" last="Saal">S. Saal</name><name sortKey="Thauvin Obinet, C" sort="Thauvin Obinet, C" uniqKey="Thauvin Obinet C" first="C" last="Thauvin-Robinet">C. Thauvin-Robinet</name><name sortKey="Thauvin Obinet, C" sort="Thauvin Obinet, C" uniqKey="Thauvin Obinet C" first="C" last="Thauvin-Robinet">C. Thauvin-Robinet</name><name sortKey="Toutain, A" sort="Toutain, A" uniqKey="Toutain A" first="A" last="Toutain">A. Toutain</name></country><country name="Belgique"><noRegion><name sortKey="Van Maldergem, L" sort="Van Maldergem, L" uniqKey="Van Maldergem L" first="L" last="Van Maldergem">L. Van Maldergem</name></noRegion><name sortKey="Cosyns, J" sort="Cosyns, J" uniqKey="Cosyns J" first="J-P" last="Cosyns">J-P Cosyns</name><name sortKey="Destree, A" sort="Destree, A" uniqKey="Destree A" first="A" last="Destree">A. Destree</name><name sortKey="Loeys, B" sort="Loeys, B" uniqKey="Loeys B" first="B" last="Loeys">B. Loeys</name><name sortKey="Maystadt, I" sort="Maystadt, I" uniqKey="Maystadt I" first="I" last="Maystadt">I. Maystadt</name></country><country name="Qatar"><noRegion><name sortKey="Teebi, A" sort="Teebi, A" uniqKey="Teebi A" first="A" last="Teebi">A. Teebi</name></noRegion></country><country name="Italie"><noRegion><name sortKey="Franco, B" sort="Franco, B" uniqKey="Franco B" first="B" last="Franco">B. Franco</name></noRegion><name sortKey="Franco, B" sort="Franco, B" uniqKey="Franco B" first="B" last="Franco">B. Franco</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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