Renal manifestations in adults with mitochondrial disease from the mtDNA m.3243A>G pathogenic variant

• Tipo: Artigo em Revista Científica Internacional
• Data: 2023

Autores

Ferreira, F (Autor) Outra; Bacelar, CG (Autor) Outra; Lisboa-Gonçalves, P (Autor) Outra; Paulo, N (Autor) Outra; Quental, R (Autor) Outra; Nunes, AT (Autor) Outra; Silva, R (Autor) Outra; Tavares, I (Autor) FMUP

Revista

Título: Nefrologia

Vol. 43

Páginas: 1-7

ISSN: 0211-6995

Editora: Grupo Aula Medica S.A.

Indexação

ISI Web of Knowledge - 1 Citação

Outras Informações

ID Authenticus: P-00Z-5BN

DOI: 10.1016/j.nefro.2023.03.004

Abstract (EN): 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 under estimated, 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. (c) 2023 Sociedad Espanola de Nefrolog ' ia. Published by Elsevier Espana, S.L.U.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 7