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Published on: March 9, 2022
Mitochondrial DNA deletion in a girl with Fanconi's syndrome
Kam Ming Au1, Shing Chi Lau, Yuen Fun Mak
1Department of Pathology, Princess Margaret Hospital, Kwai Chung, Hong Kong SAR, China. aukm@ha.org.hk
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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