만성 신질환을 동반한 후기발병 MELAS
Late-onset MELAS with Chronic Kidney Disease
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초록
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
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
참고문헌 (10)
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