WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review.

ABSTRACT:

Background

Intronic WT1 mutations are usually causative of Frasier syndrome with focal segmental glomerulosclerosis as the characteristic nephropathy. Membranoproliferative glomerulonephritis is not commonly associated with disorders of sex development but has been recently identified as a WT1-associated nephropathy, but usually in cases of exonic mutations in either isolated Wilms tumor or Denys-Drash syndrome.

Methods

The clinical and genetic data from 3 individuals are reported.

Results

This report describes the kidney manifestations in 3 individuals from 2 unrelated families with Frasier syndrome intronic WT1 mutations, noting that 2 of the 3 individuals have histologically confirmed membranoproliferative glomerulonephritis.

Conclusions

These case reports s

SUBMITTER: Anderson E 

PROVIDER: S-EPMC9395477 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature