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Renal involvement in mitochondrial cytopathies

  • Educational Review
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Abstract

Mitochondrial cytopathies constitute a group of rare diseases that are characterized by their frequent multisystemic involvement, extreme variability of phenotype and complex genetics. In children, renal involvement is frequent and probably underestimated. The most frequent renal symptom is a tubular defect that, in most severe forms, corresponds to a complete De Toni-Debré-Fanconi syndrome. Incomplete proximal tubular defects and other tubular diseases have also been reported. In rare cases, patients present with chronic tubulo-interstitial nephritis or cystic renal diseases. Finally, a group of patients develop primarily a glomerular disease. These patients correspond to sporadic case reports or can be classified into two major defects, namely 3243 A>G tRNALEU mutations and coenzyme Q10 biosynthesis defects. The latter group is particularly important because it represents the only treatable renal mitochondrial defect. In this Educational Review, the principal characteristics of these diseases and the main diagnostic approaches are summarized.

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Authors and Affiliations

  1. Division of Nephrology and Dialysis, Department of Nephrology and Urology, Bambino Gesù Children’s Hospital and Research Institute, piazza Sant’Onofrio 4, 00165, Rome, Italy

    Francesco Emma

  2. Division of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children’s Hospital and Research Institute, Rome, Italy

    Enrico Bertini

  3. Clinical Genetics Unit, Department of Pediatrics, University of Padova, Padova, Italy

    Leonardo Salviati

  4. Nephrology and Dialysis Unit, Pediatric Department, Azienda Ospedaliera di Bologna, Bologna, Italy

    Giovanni Montini

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  1. Francesco Emma
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Correspondence to Francesco Emma.

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Emma, F., Bertini, E., Salviati, L. et al. Renal involvement in mitochondrial cytopathies. Pediatr Nephrol 27, 539–550 (2012). https://doi.org/10.1007/s00467-011-1926-6

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