Article
WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review.
Pediatric nephrology (Berlin, Germany) - 1 Oct 2022
Anderson Erin, Aldridge Melanie, Turner Ross, Harraway James, McManus Sam, Stewart Anna, Borzi Peter, Trnka Peter, Burke John, Coman David
Abstract excerpt
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....
Topics
- Denys-Drash Syndrome
- Frasier Syndrome
- Genes, Wilms Tumor
- Glomerulonephritis, Membranoproliferative
- Gonadal Dysgenesis
- Humans
- Kidney Neoplasms
- Mutation
- WT1 Proteins
- Wilms Tumor