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( Emily Han Chung Hsiue ),( Ni Chung Lee ),( Pei Lin Lee ) 대한내과학회 2014 대한내과학회 추계학술발표논문집 Vol.2014 No.1
Background: Mitochondrial DNA 3243A>G, one of the most common pathogenic mitochondrial mutations, often presents in adulthood and is associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and other syndromes. Due to multi-organ involvement, patients with m.3243A>G frequently require critical care, but the diagnosis often remains unrecognized. This multicenter study aimed to evaluate the prognostic factors of m.3243A>G in Taiwan, and focused on those who had been admitted to ICU. Methods: Patients diagnosed with m.3243A>G from January 1st 1997 to August 1st 2014 at the National Taiwan University Hospital were identified. Clinical features, laboratory study results, and outcomes were recorded. ICU admission course was reviewed. Prognostic factors for ICU admission, severe disability (defi ned by modifi ed Rankin Scale, mRS≥4), and death were analyzed. Results: A total of 33 patients were identifi ed, with 19 patients (58%) demonstrating the MELAS phenotype. Thirteen patients (39%) had been admitted to ICU, and 7 (54%) were diagnosed with the mutation after ICU admission. Seizure was the most common cause for ICU admission (n=8), followed by lactic acidosis (n=2), diabetic ketoacidosis (n=1), stroke (n=1), and respiratory failure (n=1). In total, 6 patients (18%) died while 11 patients (33%) developed mRS≥4. Logistic regression analysis identifi ed symptomatic CNS involvement as a signifi cant predictor of both ICU admission (OR 8.25, 95% CI 1.43-47.58, p=0.018) and development of mRS≥4 (OR 14.44, 95% CI 1.56-133.58, p=0.019); while Kaplan Meier analysis showed that ICU admission was signifi cantly associated with mortality (log-rank test p=0.012, Fig.).