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Mitochondrial DNA deletion in a girl with Fanconi's syndrome.

Authors
  • Au, Kam Ming
  • Lau, Shing Chi
  • Mak, Yuen Fun
  • Lai, Wai Ming
  • Chow, Tat Chong
  • Chen, Mo Lung
  • Chiu, Man Chun
  • Chan, Albert Yan Wo
Type
Published Article
Journal
Pediatric nephrology (Berlin, Germany)
Publication Date
Jan 01, 2007
Volume
22
Issue
1
Pages
136–140
Identifiers
PMID: 16967281
Source
Medline
License
Unknown

Abstract

We report a sporadic large-scale mitochondrial deletion in a paediatric patient with Fanconi's syndrome. Renal biopsy disclosed chronic interstitial nephritis. Ultrastructural examination of the renal tissue showed many giant atypical mitochondria. Histochemical stains revealed markedly reduced cytochrome c oxidase (COX). Genetic analysis disclosed a novel mitochondrial deletion of 7.3 kb in both peripheral blood and renal tissue. Mitochondrial diseases have heterogeneous clinical phenotypes; mutation analysis has proved to be an effective tool in confirming the diagnosis.

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