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The Drash syndrome revisited: Diagnosis and follow-up

✍ Scribed by Friedman, Aaron L. ;Finlay, Jonathan L. ;Opitz, John M. ;Bernstein, Jay

Publisher: John Wiley and Sons
Year: 1987
Tongue: English
Weight: 274 KB
Volume: 28
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320280534

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✦ Synopsis

The Drash syndrome of Wilms tumor, glomerulonephritis and male pseudohermaphroditism (XU gonadal dysgenesis), was first reported in 1967 [Drash et al, 1970; Denys et al, 19671. Since then reports have pointed to the delayed appearance of some manifestations of the syndrome with specific attention paid to the late development of renal failure, or Wilms tumor, in patients with XY gonadal dysgenesis. Therefore, early accurate diagnosis of this syndrome is important. We report on a phenotypically and genotypically normal girl with Wilms tumor and glomerulonephritis. This report and others, which indicate that the syndrome may be present in patients without ambiguous genitalia, lead us to suggest that all girls with Wilms tumor should be considered at risk for the Drash syndrome. If possible, a careful evaluation of the ovaries at surgery is advisable. Furthermore, vigilant follow-up of renal function in Wilms tumor patients is warranted.

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