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Clinical and Molecular Characteristics in 100 Chinese Pediatric Patients with m.3243A>G Mutation in Mitochondrial DNA

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Background:Mitochondrial diseases are a group otenergy metabolic disorders with multisystem involvements.Variable clinical features present a major challenge in pediatric diagnoses.We summarized the clinical spectrum of m.3243A>G mutation in Chinese pediatric patients,to define the common clinical manifestations and study the correlation between heteroplasmic degree of the mutation and clinical severity of the disease.Methods:Clinical data of one-hundred pediatric patients with symptomatic mitochondrial disease harboring m.3243A>G mutation from 2007 to 2013 were retrospectively reviewed.Detection of m.3243A>G mutation ratio was performed by polymerase chain reaction (PCR)-restriction fragment length polymorphism.Correlation between m.3243A>G mutation ratio and age was evaluated.The differences in clinical symptom frequency of patients with low,middle,and high levels of mutation ratio were analyzed by Chi-square test.Results:Sixty-six patients (66%) had suffered a delayed diagnosis for an average of 2 years.The most frequent symptoms were seizures (76%),short stature (73%),elevated plasma lactate (70%),abnormal magnetic resonance imaging/computed tomography (MRI/CT) changes (68%),vomiting (55%),decreased vision (52%),headache (50%),and muscle weakness (48%).The mutation ratio was correlated negatively with onset age (r =-0.470,P < 0.001).Myopathy was more frequent in patients with a high level of mutation ratio.However,patients with a low or middle level of m.3243A>G mutation ratio were more likely to suffer hearing loss,decreased vision,and gastrointestinal disturbance than patients with a high level of mutation ratio.Conclusions:Our study showed that half of Chinese pediatric patients with m.3243A>G mutation presented seizures,short stature,abnormal MRI/CT changes,elevated plasma lactate,vomiting,and headache.Pediatric patients with these recurrent symptoms should be considered for screening m.3243A>G mutation.Clinical manifestations and laboratory abnormalities should be carefully monitored in patients with this point mutation.

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作者单位: Department of Central Laboratory, Peking University First Hospital, Beijing 100034, China [1]
期刊: 《中华医学杂志(英文版)》2016年129卷16期 1945-1949页 SCIMEDLINEISTICCSCDBP
栏目名称: Original Articles
DOI: 10.4103/0366-6999.187845
发布时间: 2016-09-21
基金项目:
This study was supported by grants from National Natural Science Foundation of China the Capital Characteristic Clinical Application Research Projects
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