Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypes.,Clinical Genetics

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Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypes.
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-01-09 , DOI: 10.1111/cge.13670
Hugo Bakis ₁ , Aurélien Trimouille _{2,

3} , Agathe Vermorel ₄ , Isabelle Redonnet _{3,

5,

6} , Cyril Goizet _{2,

3,

6} , Romain Boulestreau ₇ , Didier Lacombe _{2,

3,

6} , Christian Combe _{1,

8} , Marie-Laure Martin-Négrier _{4,

6,

9} , Claire Rigothier _{1,

8}

Affiliation

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.

中文翻译：

MT-ND5相关表型的成人发作性肾小管间质性肾病。

肾脏是人体中高度依赖三磷酸腺苷的器官。健康和正常的线粒体对于正常的肾功能至关重要。临床和遗传变异是线粒体疾病的标志。我们在这里报告了三个MT-ND5致病性变体的编码，它们涉及呼吸链复合体I的ND5亚基，m.13513G> A和m.13514A> G，与三名无关患者的成年肾病有关。首例患者患有肌病性脑病，乳酸性酸中毒和中风综合征，左心室肥大并伴有Wolff-Parkinson-White综合征和肾小管间质性肾脏疾病。第二种表现为与小管间质性肾脏疾病相关的莱伯遗传性视神经病变。第三例表现为孤立的慢性肾小管间质性肾脏疾病。这些突变从未与成人线粒体肾病相关。这些病例报告突出了在肾小管间质性肾脏疾病中考虑线粒体功能障碍的重要性。

更新日期：2020-03-26

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