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PubMed · 15026863

Denys-Drash syndrome.

Hsiao-Chen Lin·Shen-Kai Lin·Mei-Ching Wen·Chung-Fang Tseng·Lin-Shein Fu·Ching-Shiang Chi
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Abstract

We report a case of Denys-Drash syndrome, a disorder characterized by male pseudohermaphroditism, congenital nephrotic syndrome, and early renal failure. The patient received dialysis therapy from 15 days of age until his death at the age of 6 months. DNA analysis was performed on the WT1 gene, and a missense point mutation was detected in exon 8 (R366H). After prenatal confirmation of normal WT1 gene in the family's next child, they had a healthy baby 14 months after the patient's death.

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Denys-Drash SyndromeExonsFatal OutcomeHumansInfantMaleMutation, MissenseNephrotic SyndromePoint MutationRenal DialysisRenal InsufficiencyCase ReportsJournal Article

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Hsiao-Chen Lin, Shen-Kai Lin, Mei-Ching Wen, Chung-Fang Tseng, Lin-Shein Fu, Ching-Shiang Chi. 2004. Denys-Drash syndrome.. https://pubmed.ncbi.nlm.nih.gov/15026863/

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PubMed2005

[Denys-Drash syndrome. Experience gathered in Erlangen illustrated by two case reports].

Denys-Drash syndrome is a rare symptom complex associated with obligatory childhood nephrotic syndrome, male pseudohermaphroditism, and Wilms' tumor. The etiology of Denys-Drash syndrome is attributed to a mutation of the WT1 gene. We report on two cases of Deny-Drash syndrome confirmed by genetic testing. Rapidly evolving terminal renal insufficiency was detected in both patients necessitating bilateral nephrectomies with prophylactic intent. In one of the patients, a Wilms' tumor had already been verified in one kidney so that chemotherapy had to be initiated.The risk of Wilms' tumor is very high in patients with a WT1 mutation, which leads to the need for removal of both kidneys during or before transplantation. It would be important to perform a diagnostic work-up for WT1 gene mutation in children who develop renal failure in the 1st year of life.

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