title: Mitochondrial DNA deletion in a girl with Fanconi's syndrome.
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.
authors.affiliation: Department of Pathology, Princess Margaret Hospital, Kwai Chung, Hong Kong SAR, China. aukm@ha.org.hk
authors.forename: Kam Ming
authors.initials: KM
authors.lastname: Au
authors.forename: Shing Chi
authors.initials: SC
authors.lastname: Lau
authors.forename: Yuen Fun
authors.initials: YF
authors.lastname: Mak
authors.forename: Wai Ming
authors.initials: WM
authors.lastname: Lai
authors.forename: Tat Chong
authors.initials: TC
authors.lastname: Chow
authors.forename: Mo Lung
authors.initials: ML
authors.lastname: Chen
authors.forename: Man Chun
authors.initials: MC
authors.lastname: Chiu
authors.forename: Albert Yan Wo
authors.initials: AY
authors.lastname: Chan
mesh_terms: 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
chemical_list: D004272:DNA, Mitochondrial; D003576:Electron Transport Complex IV