title: Renal mitochondrial cytopathies.
abstract: Renal diseases in mitochondrial cytopathies are a group of rare diseases that are characterized by frequent multisystemic involvement and extreme variability of phenotype. Most frequently patients present a tubular defect that is consistent with complete De Toni-Debré-Fanconi syndrome in most severe forms. More rarely, patients present with chronic tubulointerstitial nephritis, cystic renal diseases, or primary glomerular involvement. In recent years, two clearly defined entities, namely 3243 A > G tRNA(LEU) mutations and coenzyme Q10 biosynthesis defects, have been described. The latter group is particularly important because it represents the only treatable renal mitochondrial defect. In this paper, the physiopathologic bases of mitochondrial cytopathies, the diagnostic approaches, and main characteristics of related renal diseases 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.
authors.forename: Francesco
authors.initials: F
authors.lastname: Emma
authors.forename: Giovanni
authors.initials: G
authors.lastname: Montini
authors.forename: Leonardo
authors.initials: L
authors.lastname: Salviati
authors.forename: Carlo
authors.initials: C
authors.lastname: Dionisi-Vici