Mitochondrial DNA deletion in a girl with Fanconi's syndrome.
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.
Au
Kam Ming
KM
Department of Pathology, Princess Margaret Hospital, Kwai Chung, Hong Kong SAR, China. aukm@ha.org.hk
Lau
Shing Chi
SC
Mak
Yuen Fun
YF
Lai
Wai Ming
WM
Chow
Tat Chong
TC
Chen
Mo Lung
ML
Chiu
Man Chun
MC
Chan
Albert Yan Wo
AY
D001706:Biopsy; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000235:genetics / Q000378:metabolism; D005198:Fanconi Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007684:Kidney Tubules / Q000378:metabolism / Q000473:pathology; D008928:Mitochondria / Q000648:ultrastructure; D009154:Mutation / Q000235:genetics
D004272:DNA, Mitochondrial; D003576:Electron Transport Complex IV