Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypes.
Hugo BakisAurélien TrimouilleAgathe VermorelIsabelle RedonnetCyril GoizetRomain BoulestreauDidier LacombeChristian CombeMarie-Laure Martin-NégrierClaire RigothierPublished in: Clinical genetics (2020)
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.
Keyphrases
- case report
- left ventricular
- oxidative stress
- end stage renal disease
- ejection fraction
- endothelial cells
- copy number
- heart failure
- prognostic factors
- aortic stenosis
- early onset
- acute myocardial infarction
- genome wide
- late onset
- peritoneal dialysis
- dna methylation
- coronary artery disease
- hypertrophic cardiomyopathy
- reactive oxygen species
- drug induced
- acute coronary syndrome
- brain injury
- aortic valve