title: Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect.
abstract: 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.
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, 28 Yongon-dong, Chongro-gu, Seoul 110-744, South Korea.
authors.forename: Hee Yeon
authors.initials: HY
authors.lastname: Cho
authors.forename: Byong Sop
authors.initials: BS
authors.lastname: Lee
authors.forename: Chang Hyun
authors.initials: CH
authors.lastname: Kang
authors.forename: Woong-Han
authors.initials: WH
authors.lastname: Kim
authors.forename: Il Soo
authors.initials: IS
authors.lastname: Ha
authors.forename: Hae Il
authors.initials: HI
authors.lastname: Cheong
authors.forename: Young
authors.initials: Y
authors.lastname: Choi
mesh_terms: D019943:Amino Acid Substitution; D030321:Denys-Drash Syndrome / Q000235:genetics / Q000503:physiopathology*; D003964:Diaphragm / Q000002:abnormalities*; D005260:Female; D006801:Humans; D006876:Hydrothorax / Q000235:genetics / Q000503:physiopathology*; D007223:Infant; D007231:Infant, Newborn; D020125:Mutation, Missense; D025721:WT1 Proteins / Q000235:genetics
chemical_list: D025721:WT1 Proteins