Article
Isolated steroid-resistant nephrotic syndrome in a Chinese child carrying a de novo mutation in WT1 gene:a case report and literature review.
BMC pediatrics - 16 Jun 2022
Li Yiyang, Tian Chuan, Wang Yajun, Ma Guoda, Chen Riling
Abstract excerpt
BACKGROUND: Isolated steroid-resistant nephrotic syndrome (ISRNS) is caused by mutations in the Wilms' tumor-1 (WT1) gene, which encodes glomerular podocytes and podocyte slit diaphragm.We report a novel 8-year-old female patient with ISRNS carrying a de novo missense mutation in WT1 gene and presenting a new type of pathology, have never been reported.We also systematically review previous reports of ISRNS in...
Topics
- China
- Drug Resistance
- Female
- Glomerulonephritis
- Humans
- Mutation
- Nephrotic Syndrome
- Steroids
- WT1 Proteins