Serviço de Nefrologia, Centro Hospitalar e Universitário de São João, Porto, Portugal; Departamento de Medicina, Faculdade de Medicina, Universidade do Porto, Porto, Portugal.
Faculdade de Medicina da Universidade do Porto, Porto, Portugal.
Nefrologia (Engl Ed). 2023 Dec;43 Suppl 2:1-7. doi: 10.1016/j.nefroe.2024.01.017.
Mitochondrial diseases are a phenotype and genotype heterogeneous group of disorders that typically have a multisystemic involvement. The m.3243A>G pathogenic variant is the most frequent mitochondrial DNA defect, and it causes several different clinical syndromes, such as mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS), and the maternally inherited diabetes and deafness (MIDD) syndromes. Not frequently reported, renal involvement in these diseases is probably underestimated, yet it increases morbidity. It generally manifests as subnephrotic proteinuria and progressive deterioration of kidney function. Adult presentation of mitochondrial diseases is hard to recognize, especially in oligosymptomatic patients or those with exclusive kidney involvement. However, suspicion should always arise when family history, particularly on the maternal side, and multisystemic symptoms, most often of the central nervous system and skeletal muscles, are present. In this review we discuss the clinical diagnosis and approach of patients with renal manifestations in the context of the mtDNA m.3243A>G pathogenic variant.
线粒体疾病是一组表型和基因型异质性的疾病，通常具有多系统受累。m.3243A>G 致病性变异是最常见的线粒体 DNA 缺陷，可引起多种不同的临床综合征，如线粒体脑病、乳酸酸中毒和卒中样发作（MELAS）以及母系遗传性糖尿病和耳聋（MIDD）综合征。肾脏受累在这些疾病中并不常见报道，可能被低估了，但它会增加发病率。它通常表现为亚肾病性蛋白尿和肾功能进行性恶化。线粒体疾病的成人表现很难识别，尤其是在寡症状患者或仅肾脏受累的患者中。然而，当存在家族史，特别是母系家族史，以及多系统症状，最常见的是中枢神经系统和骨骼肌症状时，应始终怀疑该病。在本文中，我们将讨论在 mtDNA m.3243A>G 致病性变异的背景下，具有肾脏表现的患者的临床诊断和处理方法。
