title: A case report of Drash syndrome in a 46,XX female.
abstract: Progressive renal insufficiency, male pseudohermaphrotidism, and Wilms tumor are known as the triad of Drash syndrome. The renal involvement has been reported in association with Wilms tumor with or without pseudohermaphroditism. The nephropathy progresses rapidly, is unresponsive to steroids, and eventually requires dialysis. The case we report is a 46,XX phenotypic female child who had diffuse mesangial sclerosis (DMS) and developed Wilms tumor 3 years after initiating dialysis for end-stage renal disease (ESRD). Any child presenting with DMS should be considered at risk for development of Wilms tumor and should be investigated for the presence of XY gonadal dysgenesis. Once ESRD develops in such a child, prophylactic nephrectomy and possibly gonadectomy should be undertaken.
authors.affiliation: Department of Pediatric Nephrology, UCLA Medical Center.
authors.forename: T L
authors.initials: TL
authors.lastname: Melocoton
authors.forename: I B
authors.initials: IB
authors.lastname: Salusky
authors.forename: T R
authors.initials: TR
authors.lastname: Hall
authors.forename: A H
authors.initials: AH
authors.lastname: Cohen
authors.forename: R M
authors.initials: RM
authors.lastname: Ehrlich
authors.forename: R N
authors.initials: RN
authors.lastname: Fine
mesh_terms: D002675:Child, Preschool; D012734:Disorders of Sex Development / Q000235:genetics; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000175:diagnosis; D010641:Phenotype; D013577:Syndrome; D009396:Wilms Tumor / Q000175:diagnosis