Document Detail

Nephrotic syndrome and end-stage renal disease with WT1 mutation detected at 3 years.
MedLine Citation:
PMID:  10603123     Owner:  NLM     Status:  MEDLINE    
We report a boy who presented at 3 years with nephrotic syndrome and end-stage renal failure. Although histopathological findings showed end-stage kidney, isolated diffuse mesangial sclerosis (IDMS) was suspected because of his clinical course, and was confirmed by the presence of WT1 (Wilms tumor suppressor gene) mutation. He did not have ambiguous genitalia or Wilms tumor. The karyotype was 46:XY. A constitutional mutation in exon 7 (953G-->A, 312Arg-->Gin) was detected. A few cases of male IDMS, associated with WT1 mutations, have been reported. We believe that investigation for the WT1 mutation should be performed not only in Denys-Drash syndrome and IDMS, but also in end-stage renal disease with unexplained nephrotic syndrome of early onset. WT1 mutation-associated nephrotic syndrome has an increased risk of Wilms tumor. Careful ultrasound evaluations or bilateral nephrectomies are indicated.
S Ito; M Ikeda; A Takata; H Kikuchi; J Hata; M Honda
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric nephrology (Berlin, Germany)     Volume:  13     ISSN:  0931-041X     ISO Abbreviation:  Pediatr. Nephrol.     Publication Date:  1999 Nov 
Date Detail:
Created Date:  2000-02-08     Completed Date:  2000-02-08     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8708728     Medline TA:  Pediatr Nephrol     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  790-1     Citation Subset:  IM    
Department of Pediatric Nephrology, Tokyo Metropolitan Kiyose Children's Hospital, Tokyo, Japan.
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MeSH Terms
Child, Preschool
DNA Mutational Analysis
DNA-Binding Proteins / genetics*
Diagnosis, Differential
Glomerular Mesangium / pathology*
Kidney Failure / genetics
Kidney Failure, Chronic / genetics,  pathology*
Nephrotic Syndrome / genetics,  pathology*
Transcription Factors / genetics*
WT1 Proteins
Zinc Fingers
Reg. No./Substance:
0/DNA-Binding Proteins; 0/Transcription Factors; 0/WT1 Proteins

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