Late-onset MELAS with Chronic Kidney Disease
Journal of the Korean Neurological Association
;
: 237-239, 2017.
Artículo
en 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
ADN Mitocondrial
/
Pruebas Genéticas
/
Mutación Puntual
/
Encefalomiopatías Mitocondriales
/
Síndrome MELAS
/
Ácido Láctico
/
Accidente Cerebrovascular
/
Enfermedades Mitocondriales
/
Insuficiencia Renal Crónica
/
Enfermedades de Inicio Tardío
Tipo de estudio:
Estudio pronóstico
Límite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Año:
2017
Tipo del documento:
Artículo
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