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. 2020 Apr;97(4):628-633.
doi: 10.1111/cge.13670. Epub 2020 Jan 9.

Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypes

Hugo Bakis  1 , Aurélien Trimouille  2   3 , Agathe Vermorel  4 , Isabelle Redonnet  5   6   3 , Cyril Goizet  2   6   3 , Romain Boulestreau  7 , Didier Lacombe  2   6   3 , Christian Combe  1   8 , Marie-Laure Martin-Négrier  4   6   9 , Claire Rigothier  1   8
Affiliations

Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypes

Hugo Bakis et al. Clin Genet. 2020 Apr.

Abstract

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.

Keywords: MT-ND5; adult; complex I; mitochondrial disorder; tubulo-interstitial nephropathy.

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References

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