Bakis Hugo, Trimouille Aurélien, Vermorel Agathe, Goizet Cyril, Belaroussi Yaniss, Schutz Sacha, Solé Guilhem, Combe Christian, Martin-Negrier Marie-Laure, Rigothier Claire
CHU de Bordeaux, Service de Néphrologie, Transplantation, Dialyse et Aphérèses, Bordeaux, France.
CHU de Bordeaux, Centre de Référence pour les Maladies Mitochondriales de l'Enfant à l'Adulte (CARAMMEL), Bordeaux, France.
Clin Kidney J. 2022 Sep 7;16(1):100-110. doi: 10.1093/ckj/sfac195. eCollection 2023 Jan.
Mitochondrial functions are controlled by genes of both mitochondrial and nuclear DNA. Pathogenic variants affecting any of these are responsible for primary mitochondrial disorders (MIDs), which can be diagnosed during adulthood. Kidney functions are highly dependent on mitochondrial respiration. However, the prevalence of MID-associated nephropathies (MIDANs) is unknown in the adult population. We aimed to address this point and to provide a full characterization of MIDANs in this population.
We retrospectively included for observational study adults (≥16 years of age) with genetically diagnosed MID between 2000 and 2020 in our tertiary care academic centre when they had a chronic kidney disease (CKD) evaluation. MIDANs were ascertained by CKD occurring in MIDs. The phenotypic, biological, histopathological and genotypic characteristics were recorded from the medical charts.
We included 80 MID-affected adults and ascertained MIDANs in 28/80 (35%). Kidney diseases under the care of a nephrologist occurred in only 14/28 (50%) of the adults with MIDAN. MIDANs were tubulointerstitial nephropathy in 14/28 patients (50%) and glomerular diseases in 9/28 (32.1%). In adults with MID, MIDAN was negatively associated with higher albumin levels {odds ratio [OR] 0.79 [95% confidence interval (CI) 0.67-0.95]} and vision abnormalities [OR 0.17 (95% CI 0.03-0.94)] and positively associated with hypertension [OR 4.23 (95% CI 1.04-17.17)].
MIDANs are frequent among adult MIDs. They are mostly represented by tubulointerstitial nephropathy or glomerular disease. Vision abnormalities, hypertension and albumin levels were independently associated with MIDANs. Our results pave the way for prospective studies investigating the prevalence of MIDANs among undetermined kidney disease populations.
线粒体功能受线粒体DNA和核DNA的基因控制。影响其中任何一个的致病变异都可导致原发性线粒体疾病（MIDs），这些疾病可在成年期被诊断出来。肾脏功能高度依赖线粒体呼吸作用。然而，成年人群体中与线粒体疾病相关的肾病（MIDANs）的患病率尚不清楚。我们旨在解决这一问题，并全面描述该人群中的MIDANs。
我们回顾性纳入了2000年至2020年期间在我们的三级医疗学术中心因慢性肾脏病（CKD）评估而被基因诊断为MID的成年人（≥16岁）进行观察性研究。MIDANs通过MIDs中出现的CKD来确定。从病历中记录表型、生物学、组织病理学和基因型特征。
我们纳入了80名受MID影响的成年人，其中28/80（35%）被确定为MIDANs。在患有MIDAN的成年人中，只有14/28（50%）的肾病由肾病科医生诊治。MIDANs在14/28例患者（50%）中为肾小管间质性肾病，在9/28例（32.1%）中为肾小球疾病。在患有MID的成年人中，MIDAN与较高的白蛋白水平呈负相关{比值比[OR]0.79[95%置信区间（CI）0.67 - 0.95]}以及视力异常[OR 0.17（95% CI 0.03 - 0.94）]，与高血压呈正相关[OR 4.23（95% CI 1.04 - 17.17）]。
MIDANs在成年MIDs患者中很常见。它们主要表现为肾小管间质性肾病或肾小球疾病。视力异常、高血压和白蛋白水平与MIDANs独立相关。我们的结果为在前瞻性研究中调查MIDANs在未明确的肾病患者群体中的患病率铺平了道路。
