Renal diseases in mitochondrial cytopathies are a group of rare diseases that are characterized by frequent multisystemic involvement and extreme variability of phenotype. Most frequently patients present a tubular defect that is consistent with complete De Toni-Debré-Fanconi syndrome in most severe forms. More rarely, patients present with chronic tubulointerstitial nephritis, cystic renal diseases, or primary glomerular involvement. In recent years, two clearly defined entities, namely 3243 A > G tRNALEU mutations and coenzyme Q10 biosynthesis defects, have been described. The latter group is particularly important because it represents the only treatable renal mitochondrial defect. In this paper, the physiopathologic bases of mitochondrial cytopathies, the diagnostic approaches, and main characteristics of related renal diseases are summarized.
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机译：线粒体细胞病中的肾脏疾病是一组罕见疾病，其特征在于频繁的多系统参与和表型的极端变异。最常见的患者表现出与最严重形式的完全DeToni-Debré-Fanconi综合征相符的肾小管缺陷。很少有慢性肾小管间质性肾炎，囊性肾病或原发性肾小球受累的患者。近年来，已经描述了两个明确定义的实体，即3243个A→G G tRNALEU突变和辅酶Q10生物合成缺陷。后一组特别重要，因为它代表了唯一可治疗的肾线粒体缺陷。本文概述了线粒体细胞病变的生理病理基础，相关肾脏疾病的诊断方法和主要特征。
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