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Emma F, Montini G, Salviati L, et al. Renal mitochondrial cytopathies. Int J Nephrol. 2011;2011:609213doi: 10.4061/2011/609213.
Emma, F., Montini, G., Salviati, L., & Dionisi-Vici, C. (2011). Renal mitochondrial cytopathies. International journal of nephrology, 2011609213. https://doi.org/10.4061/2011/609213
Emma, Francesco, et al. "Renal mitochondrial cytopathies." International journal of nephrology vol. 2011 (2011): 609213. doi: https://doi.org/10.4061/2011/609213
Emma F, Montini G, Salviati L, Dionisi-Vici C. Renal mitochondrial cytopathies. Int J Nephrol. 2011;2011:609213. doi: 10.4061/2011/609213. Epub 2011 Jul 27. PMID: 21811680; PMCID: PMC3146993.
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Int J Nephrol. 2011;2011:609213. doi: 10.4061/2011/609213. Epub 2011 Jul 27.

Renal mitochondrial cytopathies.

International journal of nephrology

Francesco Emma, Giovanni Montini, Leonardo Salviati, Carlo Dionisi-Vici

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.

PMID: 21811680 PMCID: PMC3146993 DOI: 10.4061/2011/609213

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.

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