Renal Mitochondrial Cytopathies
Joint Authors
Salviati, Leonardo
Emma, Francesco
Montini, Giovanni
Dionisi-Vici, Carlo
Source
International Journal of Nephrology
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-07-27
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Emma, Francesco& Montini, Giovanni& Salviati, Leonardo& Dionisi-Vici, Carlo. 2011. Renal Mitochondrial Cytopathies. International Journal of Nephrology،Vol. 2011, no. 2011, pp.1-10.
https://search.emarefa.net/detail/BIM-484820
Modern Language Association (MLA)
Emma, Francesco…[et al.]. Renal Mitochondrial Cytopathies. International Journal of Nephrology No. 2011 (2011), pp.1-10.
https://search.emarefa.net/detail/BIM-484820
American Medical Association (AMA)
Emma, Francesco& Montini, Giovanni& Salviati, Leonardo& Dionisi-Vici, Carlo. Renal Mitochondrial Cytopathies. International Journal of Nephrology. 2011. Vol. 2011, no. 2011, pp.1-10.
https://search.emarefa.net/detail/BIM-484820
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-484820