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Pediatric Nephrology

, Volume 21, Issue 12, pp 1909–1912 | Cite as

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

  • Hee Yeon Cho
  • Byong Sop Lee
  • Chang Hyun Kang
  • Woong-Han Kim
  • Il Soo Ha
  • Hae Il CheongEmail author
  • Young Choi
Brief Report

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.

Keywords

WT1 Denys-Drash syndrome Diaphragmatic defect Meacham syndrome 

Notes

Acknowledgement

This study was supported by a grant (04-2005-064-0) from the Seoul National University Hospital Research Fund.

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Copyright information

© IPNA 2006

Authors and Affiliations

  • Hee Yeon Cho
    • 1
  • Byong Sop Lee
    • 1
  • Chang Hyun Kang
    • 2
  • Woong-Han Kim
    • 2
  • Il Soo Ha
    • 1
  • Hae Il Cheong
    • 1
    Email author
  • Young Choi
    • 1
  1. 1.Department of PediatricsSeoul National University Children’s HospitalSeoulSouth Korea
  2. 2.Department of Thoracic and Cardiovascular SurgerySeoul National University HospitalSeoulSouth Korea

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