Renal involvement in mitochondrial cytopathies

Pediatr Nephrol. 2012 Apr;27(4):539-50. doi: 10.1007/s00467-011-1926-6. Epub 2011 Jun 9.


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 tRNA(LEU) 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.

Publication types

  • Review

MeSH terms

  • Humans
  • Kearns-Sayre Syndrome* / complications
  • Kearns-Sayre Syndrome* / genetics
  • Kearns-Sayre Syndrome* / physiopathology
  • Kidney Diseases / etiology*
  • Kidney Diseases / physiopathology
  • Mitochondrial Myopathies* / complications
  • Mitochondrial Myopathies* / genetics
  • Mitochondrial Myopathies* / physiopathology

Supplementary concepts

  • Mitochondrial cytopathy