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

• Type: Article in International Scientific Journal
• Date: 2023

Authors

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

Journal

Title: Nefrologia

Vol. 43

Pages: 1-7

ISSN: 0211-6995

Publisher: Grupo Aula Medica S.A.

Indexing

ISI Web of Knowledge - 0 Citations

Other information

Authenticus ID: 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 7