Two cases of isolated diffuse mesangial sclerosis with WT1 mutations.
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.
Hahn
Hyewon
H
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Cho
Young Mi
YM
Park
Young Seo
YS
You
Han Wook
HW
Cheong
Hae Il
HI
D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D005920:Glomerular Mesangium / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D009400:Nephrosclerosis / Q000235:genetics*; D025721:WT1 Proteins / Q000235:genetics*
D025721:WT1 Proteins; D004247:DNA