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Mitochondrial DNA deletion in a girl with Fanconi’s syndrome

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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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Authors and Affiliations

  1. Department of Pathology, Princess Margaret Hospital, Kwai Chung, Hong Kong SAR, China

    Kam Ming Au, Yuen Fun Mak, Tat Chong Chow, Mo Lung Chen & Albert Yan Wo Chan

  2. Department of Paediatric and Adolescent Medicine, Princess Margaret Hospital, Kwai Chung, Hong Kong SAR, China

    Shing Chi Lau, Wai Ming Lai & Man Chun Chiu

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  1. Kam Ming Au
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  2. Shing Chi Lau
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  3. Yuen Fun Mak
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  4. Wai Ming Lai
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  5. Tat Chong Chow
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  6. Mo Lung Chen
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  8. Albert Yan Wo Chan
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Correspondence to Kam Ming Au.

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Au, K.M., Lau, S.C., Mak, Y.F. et al. Mitochondrial DNA deletion in a girl with Fanconi’s syndrome. Pediatr Nephrol 22, 136–140 (2007). https://doi.org/10.1007/s00467-006-0288-y

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  • DOI: https://doi.org/10.1007/s00467-006-0288-y

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