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

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Cho, Hee Yeon; Lee, Byong Sop; Kang, Chang Hyun; Kim, Woong-Han; Ha, Il Soo; Cheong, Hae Il; Choi, Young
Issue Date
Springer Verlag
Pediatr Nephrol. 2006 Dec;21(12):1909-12. Epub 2006 Aug 25.
Amino Acid SubstitutionDenys-Drash Syndrome/genetics/*physiopathologyDiaphragm/*abnormalitiesFemaleHumansHydrothorax/genetics/*physiopathologyInfantInfant, NewbornMutation, MissenseWT1 Proteins/genetics
The 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.
0931-041X (Print)
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College of Medicine/School of Medicine (의과대학/대학원)Thoracic Surgery (흉부외과학전공)Journal Papers (저널논문_흉부외과학전공)
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