Friedman A L, Finlay J L
Department of Pediatrics, University of Wisconsin, Madison 53792.
Am J Med Genet Suppl. 1987;3:293-6. doi: 10.1002/ajmg.1320280534.
The Drash syndrome of Wilms tumor, glomerulonephritis and male pseudohermaphroditism (XY gonadal dysgenesis), was first reported in 1967 [Drash et al, 1970; Denys et al, 1967]. 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.
威尔姆斯瘤、肾小球肾炎和男性假两性畸形(XY性腺发育不全)的德拉斯综合征于1967年首次报道[德拉斯等人,1970年;丹尼斯等人,1967年]。从那时起,报告指出该综合征的一些表现出现较晚,特别关注XY性腺发育不全患者肾衰竭或威尔姆斯瘤的晚期发展。因此,早期准确诊断该综合征很重要。我们报告了一名表型和基因型正常但患有威尔姆斯瘤和肾小球肾炎的女孩。本报告及其他表明该综合征可能存在于无生殖器模糊的患者中的报告,使我们建议所有患有威尔姆斯瘤的女孩都应被视为有德拉斯综合征的风险。如果可能,手术时对卵巢进行仔细评估是可取的。此外,对威尔姆斯瘤患者的肾功能进行密切随访是必要的。