Renal Mitochondrial Cytopathies
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...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2011-01-01
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| Series: | International Journal of Nephrology |
| Online Access: | http://dx.doi.org/10.4061/2011/609213 |
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| _version_ | 1849685614198259712 |
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| author | Francesco Emma Giovanni Montini Leonardo Salviati Carlo Dionisi-Vici |
| author_facet | Francesco Emma Giovanni Montini Leonardo Salviati Carlo Dionisi-Vici |
| author_sort | Francesco Emma |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-c50e8786d6664b4fa0a32d4eeb88fbd9 |
| institution | DOAJ |
| issn | 2090-214X 2090-2158 |
| language | English |
| publishDate | 2011-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Nephrology |
| spelling | doaj-art-c50e8786d6664b4fa0a32d4eeb88fbd92025-08-20T03:23:04ZengWileyInternational Journal of Nephrology2090-214X2090-21582011-01-01201110.4061/2011/609213609213Renal Mitochondrial CytopathiesFrancesco Emma0Giovanni Montini1Leonardo Salviati2Carlo Dionisi-Vici3Division of Nephrology and Dialysis, Department of Nephrology and Urology, Bambino Gesù Children's Hospital and Research Institute, piazza Sant'Onofrio 4, 00165 Rome, ItalyNephrology and Dialysis Unit, Pediatric Department, Azienda Ospedaliera di Bologna, 40138 Bologna, ItalyClinical Genetics Unit, Department of Pediatrics, University of Padova, 35128 Padova, ItalyDivision of Metabolic Diseases, Department of Pediatric Medicine, Bambino Gesù Children's Hospital and Research Institute, 00165 Rome, ItalyRenal 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.http://dx.doi.org/10.4061/2011/609213 |
| spellingShingle | Francesco Emma Giovanni Montini Leonardo Salviati Carlo Dionisi-Vici Renal Mitochondrial Cytopathies International Journal of Nephrology |
| title | Renal Mitochondrial Cytopathies |
| title_full | Renal Mitochondrial Cytopathies |
| title_fullStr | Renal Mitochondrial Cytopathies |
| title_full_unstemmed | Renal Mitochondrial Cytopathies |
| title_short | Renal Mitochondrial Cytopathies |
| title_sort | renal mitochondrial cytopathies |
| url | http://dx.doi.org/10.4061/2011/609213 |
| work_keys_str_mv | AT francescoemma renalmitochondrialcytopathies AT giovannimontini renalmitochondrialcytopathies AT leonardosalviati renalmitochondrialcytopathies AT carlodionisivici renalmitochondrialcytopathies |