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International Journal of Nephrology
Volume 2011, Article ID 609213, 10 pages
Review Article

Renal Mitochondrial Cytopathies

1Division of Nephrology and Dialysis, Department of Nephrology and Urology, Bambino Gesù Children's Hospital and Research Institute, piazza Sant'Onofrio 4, 00165 Rome, Italy
2Nephrology and Dialysis Unit, Pediatric Department, Azienda Ospedaliera di Bologna, 40138 Bologna, Italy
3Clinical Genetics Unit, Department of Pediatrics, University of Padova, 35128 Padova, Italy
4Division of Metabolic Diseases, Department of Pediatric Medicine, Bambino Gesù Children's Hospital and Research Institute, 00165 Rome, Italy

Received 19 April 2011; Accepted 3 June 2011

Academic Editor: Patrick Niaudet

Copyright © 2011 Francesco Emma et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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 tRNALEU 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.