Two Cases of Isolated Diffuse Mesangial Sclerosis with WT1 Mutations.
10.3346/jkms.2006.21.1.160
- Author:
Hyewon HAHN
1
;
Young Mi CHO
;
Young Seo PARK
;
Han Wook YOU
;
Hae Il CHEONG
Author Information
1. Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. yspark@amc.seoul.kr
- Publication Type:Case Report
- Keywords:
Denys-Drash Syndrome;
Diffuse Mesangial Sclerosis;
WT1 Proteins;
Genes, Wilms Tumor
- MeSH:
Base Sequence;
DNA/chemistry/genetics;
DNA Mutational Analysis;
Fatal Outcome;
Female;
Glomerular Mesangium/*pathology;
Humans;
Infant;
Infant, Newborn;
*Mutation;
Nephrosclerosis/*genetics;
WT1 Proteins/*genetics
- From:Journal of Korean Medical Science
2006;21(1):160-164
- CountryRepublic of Korea
- Language:English
-
Abstract:
Here we report two cases of isolated diffuse mesangial sclerosis (IDMS) with early onset end-stage renal failure. These female patients did not show abnormalities of the gonads or external genitalia. Direct sequencing of WT1 PCR products from genomic DNA identified WT1 mutations in exons 8 (366 Arg>His) and 9 (396 Asp>Tyr). These mutations have been reported previously in association with Denys-Drash syndrome (DDS) with early onset renal failure. Therefore we suggest that, at least in part, IDMS is a variant of DDS and that investigations for the WT1 mutations should be performed in IDMS patients. In cases with identified WT1 mutations, the same attention to tumor development should be required as in DDS patients, and karyotyping and serial abdominal ultrasonograms to evaluate the gonads and kidney are warranted.
