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Adult onset tubulo‐interstitial nephropathy in MT‐ND5‐related phenotypes
Author(s) -
Bakis Hugo,
Trimouille Aurélien,
Vermorel Agathe,
Redonnet Isabelle,
Goizet Cyril,
Boulestreau Romain,
Lacombe Didier,
Combe Christian,
MartinNégrier MarieLaure,
Rigothier Claire
Publication year - 2020
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13670
Subject(s) - kidney disease , nephropathy , kidney , medicine , mitochondrial myopathy , pathology , myopathy , lactic acidosis , endocrinology , biology , mitochondrial dna , genetics , diabetes mellitus , gene
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.