Late-onset MELAS with Chronic Kidney Disease
Journal of the Korean Neurological Association
;
: 237-239, 2017.
Artigo
em Coreano
| WPRIM
| ID: wpr-168021
ABSTRACT
Mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS) is a multisystem mitochondrial disorder that typically presents in childhood. We report a case of MELAS syndrome diagnosed in a 45-year-old man presented with chronic kidney disease before a stroke-like episode. Genetic testing revealed a m.3243A>G point mutation in the mtDNA. The original diagnostic criteria for MELAS required the onset of stroke-like episodes prior to 40 years of age but this case demonstrates that disease onset may delay in certain individuals.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
DNA Mitocondrial
/
Testes Genéticos
/
Mutação Puntual
/
Encefalomiopatias Mitocondriais
/
Síndrome MELAS
/
Ácido Láctico
/
Acidente Vascular Cerebral
/
Doenças Mitocondriais
/
Insuficiência Renal Crônica
/
Transtornos de Início Tardio
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2017
Tipo de documento:
Artigo
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