Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypes
| Autor: | Cyril Goizet, Romain Boulestreau, Claire Rigothier, Christian Combe, Aurélien Trimouille, Marie-Laure Martin-Negrier, Isabelle Redonnet, Hugo Bakis, Didier Lacombe, Agathe Vermorel |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Adult Male Pathology medicine.medical_specialty Mitochondrial disease Encephalopathy Renal function 030105 genetics & heredity Kidney DNA Mitochondrial Nephropathy Mitochondrial Proteins 03 medical and health sciences Genetics Medicine Humans Genetics (clinical) Electron Transport Complex I urogenital system business.industry Middle Aged medicine.disease Mitochondria 030104 developmental biology medicine.anatomical_structure Phenotype Lactic acidosis Mutation Nephritis Interstitial Female Wolff-Parkinson-White Syndrome MT-ND5 business Kidney disease |
| Zdroj: | Clinical geneticsREFERENCES. 97(4) |
| ISSN: | 1399-0004 |
| Popis: | Kidney is a highly adenosine triphosphate dependent organ in human body. Healthy and functional mitochondria are essential for normal kidney function. Clinical and genetic variability are the hallmarks of mitochondrial disorders. We report here the involvement of two MT-ND5 pathogenic variants encoding for ND5 subunit of respiratory chain complex I, the m.13513G>A and the m.13514A>G, in adult-onset kidney disease in three unrelated patients. The first patient had myopathy encephalopathy lactic acidosis and stroke syndrome, left ventricular hypertrophy with Wolff-Parkinson-White syndrome and tubulo-interstitial kidney disease. The second presented Leber hereditary optic neuropathy associated with tubulo-interstitial kidney disease. The third presented with an isolated chronic tubulo-interstitial kidney disease. These mutations have never been associated with adulthood mitochondrial nephropathy. These case reports highlight the importance to consider mitochondrial dysfunction in tubulo-interstitial kidney disease. |
| Databáze: | OpenAIRE |
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