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&...

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Bibliographic Details
Published inJournal of Korean medical science Vol. 21; no. 1; pp. 160 - 164
Main Authors Hahn, Hyewon, Cho, Young Mi, Park, Young Seo, You, Han Wook, Cheong, Hae Il
Format Journal Article
LanguageEnglish
Published Korea (South) The Korean Academy of Medical Sciences 01.02.2006
Subjects
Base Sequence
Case Report
DNA - chemistry
DNA - genetics
DNA Mutational Analysis
Fatal Outcome
Female
Glomerular Mesangium - pathology
Humans
Infant
Infant, Newborn
Mutation
Nephrosclerosis - genetics
WT1 Proteins - genetics
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Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-1
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ISSN:1011-8934
1598-6357
DOI:10.3346/jkms.2006.21.1.160