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Isolated diffuse mesangial sclerosis and Wilms tumor suppressor gene
1Department of Nephrology, Tokyo Metropolitan Kiyose Children's Hospital, Tokyo, Japan.
The Journal of Pediatrics
|March 10, 2001
Summary
Mutations in the Wilms tumor suppressor gene (WT1) were found in Japanese children with isolated diffuse mesangial sclerosis, a rare kidney disease. This suggests a genetic link in cases not associated with Denys-Drash syndrome.
Area of Science:
- Nephrology
- Genetics
- Pediatric diseases
Background:
- Diffuse mesangial sclerosis (DMS) is a rare kidney disease.
- DMS can occur in isolation or as part of Denys-Drash syndrome.
- Denys-Drash syndrome is linked to mutations in the Wilms tumor suppressor gene (WT1).
Purpose of the Study:
- To investigate the role of WT1 mutations in Japanese children with isolated diffuse mesangial sclerosis.
Main Methods:
- Genetic analysis of the WT1 gene.
- Clinical data review of pediatric patients.
Main Results:
- WT1 gene mutations were identified in 7 Japanese children diagnosed with isolated diffuse mesangial sclerosis.
Conclusions:
- WT1 mutations are present in some cases of isolated diffuse mesangial sclerosis in Japanese children.
- This finding expands the known spectrum of WT1-associated renal diseases.