Long-term outcome in a case series of Denys-Drash syndrome.

ABSTRACT:

Background

Denys-Drash syndrome (DDS) is a rare disease caused by mutations in exons 8 and 9 of the WT1 gene. It is characterized by the association of early onset steroid-resistant nephrotic syndrome (SRNS), Wilms' tumour and, in some patients, intersex disorders, with increasing risk of gonadoblastoma. There are few published data concerning the long-term outcome of patients with DDS. The aim of this study was to report our experience.

Methods

Data were collected from five children (three boys) with confirmed DDS diagnosed from 1996 to 2017. The mean follow-up of these patients was 16 years.

Results

The patients presented with SRNS and diffuse mesangial sclerosis at renal biopsy. All patients were hypertensive and progressed to end-stage kidney disease, initi

SUBMITTER: Roca N 

PROVIDER: S-EPMC6885669 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature