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Two cases of isolated diffuse mesangial sclerosis with WT1 mutations
Hyewon Hahn1, Young Mi Cho, Young Seo Park
1Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Journal of Korean Medical Science
|February 16, 2006
Summary
Isolated diffuse mesangial sclerosis (IDMS) may be a variant of Denys-Drash syndrome (DDS). WT1 gene mutations found in IDMS patients suggest genetic links and warrant similar tumor surveillance as in DDS.
Area of Science:
- Nephrology
- Genetics
- Pediatric Nephrology
Background:
- Isolated diffuse mesangial sclerosis (IDMS) is a rare kidney disease.
- Early-onset end-stage renal failure is a severe complication of IDMS.
- The genetic basis of IDMS is not fully understood.
Observation:
- Two female patients with IDMS and early-onset end-stage renal failure were studied.
- These patients had normal gonadal development and external genitalia.
- Genomic DNA sequencing identified mutations in the WT1 gene (exons 8 and 9).
Findings:
- Specific WT1 mutations (Arg>His at 366 and Asp>Tyr at 396) were identified in both patients.
- These mutations are previously associated with Denys-Drash syndrome (DDS).
- The findings suggest a genetic overlap between IDMS and DDS.
Implications:
- IDMS may represent a variant of Denys-Drash syndrome (DDS).
- WT1 mutation analysis should be considered for patients diagnosed with IDMS.
- Patients with identified WT1 mutations require monitoring for tumor development and gonadal/renal abnormalities, similar to DDS patients.