title: Renal involvement in mitochondrial cytopathies.
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 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.
authors.affiliation: 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@opbg.net
authors.forename: Francesco
authors.initials: F
authors.lastname: Emma
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.forename: Leonardo
authors.initials: L
authors.lastname: Salviati
authors.forename: Giovanni
authors.initials: G
authors.lastname: Montini
mesh_terms: D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D007674:Kidney Diseases / Q000209:etiology* / Q000503:physiopathology; D017240:Mitochondrial Myopathies / Q000150:complications / Q000235:genetics / Q000503:physiopathology