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

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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.

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Acknowledgement

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

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Authors and Affiliations

  1. Department of Pediatrics, Seoul National University Children’s Hospital, 28 Yongon-dong, Chongro-gu, Seoul, 110–744, South Korea

    Hee Yeon Cho, Byong Sop Lee, Il Soo Ha, Hae Il Cheong & Young Choi

  2. Department of Thoracic and Cardiovascular Surgery, Seoul National University Hospital, Seoul, South Korea

    Chang Hyun Kang & Woong-Han Kim

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  1. Hee Yeon Cho
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  2. Byong Sop Lee
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  3. Chang Hyun Kang
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  4. Woong-Han Kim
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  5. Il Soo Ha
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  6. Hae Il Cheong
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  7. Young Choi
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Correspondence to Hae Il Cheong.

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Cho, H.Y., Lee, B.S., Kang, C.H. et al. Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect. Pediatr Nephrol 21, 1909–1912 (2006). https://doi.org/10.1007/s00467-006-0273-5

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  • DOI: https://doi.org/10.1007/s00467-006-0273-5

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