101. Prognosis of symptomatic patients with the A3243G mutation of mitochondrial DNA
- Author
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Chien-Hung Chang, Chin-Chang Huang, Long-Sun Ro, Chi-Hung Liu, Yau-Huei Wei, Hung-Chou Kuo, and Chia-Wei Liou
- Subjects
Adult ,Male ,medicine.medical_specialty ,Mitochondrial Diseases ,Adolescent ,Mitochondrial disease ,Population ,Taiwan ,Cardiomyopathy ,mitochondrial DNA ,Kaplan-Meier Estimate ,Status epilepticus ,DNA, Mitochondrial ,A3243G mutation ,Young Adult ,Status Epilepticus ,Asian People ,Seizures ,Modified Rankin Scale ,Internal medicine ,Humans ,Medicine ,Child ,education ,Survival analysis ,Retrospective Studies ,Medicine(all) ,lcsh:R5-920 ,education.field_of_study ,Muscle biopsy ,medicine.diagnostic_test ,business.industry ,Taiwanese ,General Medicine ,Middle Aged ,Prognosis ,medicine.disease ,Surgery ,Stroke ,mitochondrial disease ,Phenotype ,MELAS ,Mutation ,Female ,Age of onset ,medicine.symptom ,lcsh:Medicine (General) ,business ,Follow-Up Studies - Abstract
Background/Purpose The clinical analyses and prognoses of mitochondrial diseases with A3243G mutation are rarely documented in Taiwan. Our study investigated the clinical phenotypes and the outcomes of patients with mitochondrial disease and the A3243G mutation of mtDNA in a Taiwanese population, and compared these with previous reports. Methods We retrospectively studied 22 consecutive patients with mitochondrial disease and the A3243G mutation of mtDNA in Chang Gung Memorial Hospital between 1988 and 2009. All patients underwent a detailed demographic registration, neurological examinations, a muscle biopsy, and mitochondrial DNA analysis. Modified Rankin scale, the presence of recurrent strokes or seizures, critical medical complications, and death were monitored during the follow-up period. Results Of the 22 patients, seizures and stroke-like episodes were found in 12 (55%). Visceral involvement, including cardiomyopathy, nephropathy, and pulmonary hypertension, were noted in five patients (23%). Patients with seizures had a high frequency of status epilepticus (92%) and a younger age of onset (21.3 ± 7.2 years). Both the Kaplan–Meier survival analysis and the Cox-regression model showed a marked deterioration in patients with seizures after 7 years of follow-up. Conclusion Our study found that seizures and status epilepticus are the most important predictive values for a poor outcome in patients with the mtA3243G mutation of mtDNA. Age of onset and visceral organ involvement had no prominent influence on the prognosis. Some medical complications could be well controlled or even reversed after management.
- Published
- 2012