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Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect

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dc.contributor.authorCho, Hee Yeon-
dc.contributor.authorLee, Byong Sop-
dc.contributor.authorKang, Chang Hyun-
dc.contributor.authorKim, Woong-Han-
dc.contributor.authorHa, Il Soo-
dc.contributor.authorCheong, Hae Il-
dc.contributor.authorChoi, Young-
dc.date.accessioned2009-11-26T04:39:46Z-
dc.date.available2009-11-26T04:39:46Z-
dc.date.issued2006-08-26-
dc.identifier.citationPediatr Nephrol. 2006 Dec;21(12):1909-12. Epub 2006 Aug 25.en
dc.identifier.issn0931-041X (Print)-
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16932893-
dc.identifier.urihttps://hdl.handle.net/10371/15835-
dc.description.abstractThe Wilms tumor suppressor gene, WT1, plays an important role in the development of the urogenital system and the gonads, and clinical syndromes associated with WT1 mutations, such as WAGR syndrome, Denys-Drash syndrome and Frasier syndrome, typically manifest as renal and genitourinary abnormalities. WT1 may also play an important role in the development of the diaphragm, and recently several papers have reported an association between WT1 mutations and diaphragmatic hernias. In addition, WT1 mutations were also detected in some patients with Meacham syndrome, a rare malformation syndrome comprising congenital diaphragmatic hernia, double vagina, sex reversal, and cardiac malformations. Here, we report a case of an infant with typical clinical features of Deny-Drash syndrome and a heterozygous missense mutation, Arg366His, in the WT1 gene, in whom a diaphragm defect was detected after starting peritoneal dialysis. Diaphragmatic defects are rare but may be considered as clinical manifestations of WT1 mutation syndromes. In addition, we suggest that WT1 abnormalities should be suspected in patients with chronic renal failure who develop hydrothorax after peritoneal dialysis, especially in those with genitourinary abnormalities.en
dc.language.isoen-
dc.publisherSpringer Verlagen
dc.subjectAmino Acid Substitutionen
dc.subjectDenys-Drash Syndrome/genetics/*physiopathologyen
dc.subjectDiaphragm/*abnormalitiesen
dc.subjectFemaleen
dc.subjectHumansen
dc.subjectHydrothorax/genetics/*physiopathologyen
dc.subjectInfanten
dc.subjectInfant, Newbornen
dc.subjectMutation, Missenseen
dc.subjectWT1 Proteins/geneticsen
dc.titleHydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defecten
dc.typeArticleen
dc.contributor.AlternativeAuthor조희연-
dc.contributor.AlternativeAuthor이병섭-
dc.contributor.AlternativeAuthor강창현-
dc.contributor.AlternativeAuthor김웅한-
dc.contributor.AlternativeAuthor하일수-
dc.contributor.AlternativeAuthor정하일-
dc.contributor.AlternativeAuthor최영-
dc.identifier.doi10.1007/s00467-006-0273-5-
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