Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypes.
Clin Genet. 2020-01-09; 97(4): 628-633
DOI: 10.1111/cge.13670
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1. Clin Genet. 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.
Bakis H(1), Trimouille A(2)(3), Vermorel A(4), Redonnet I(5)(6)(3), Goizet
C(2)(6)(3), Boulestreau R(7), Lacombe D(2)(6)(3), Combe C(1)(8), Martin-Négrier
ML(4)(6)(9), Rigothier C(1)(8).
Author information:
(1)Service de Néphrologie Transplantation Dialyse et Aphérèses, Centre
Hospitalier Universitaire de Bordeaux, Bordeaux, France.
(2)Service de Génétique médicale, Centre Hospitalier Universitaire de Bordeaux,
Bordeaux, France.
(3)lNSERM U1211, Université de Bordeaux, Bordeaux, France.
(4)Service de Pathologie, Centre Hospitalier Universitaire de Bordeaux, Bordeaux,
France.
(5)Laboratoire de Biochimie, Centre Hospitalier Universitaire de Bordeaux,
Bordeaux, France.
(6)Centre de référence pour les maladies mitochondriales de l’enfant à l’adulte
(CARAMMEL), Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
(7)Service de Cardiologie et d’Hypertension Artérielle, Centre Hospitalier
Universitaire de Bordeaux, Bordeaux, France.
(8)Tissue Bioengineering, U1026, INSERM, Bordeaux, France.
(9)UMR5293, Université de Bordeaux, Bordeaux, France.
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.
© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
DOI: 10.1111/cge.13670
PMID: 31713837 [Indexed for MEDLINE]