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目的对一个拟诊为亨廷顿病的家系进行诊断分析,为该家系成员提供遗传咨询及建议,并阐述亨廷顿舞蹈病目前诊断及治疗手段。方法收集该家系成员相关临床资料,包括一般资料、认知功能评估、脑电图、影像学资料及基因检测,并复习最新文献资料。结果该家系共21位成员,6位成员参加了基因测序,其中3位基因测序为阳性。结论基因诊断为亨廷顿病最主要的诊断方法,该家系2例患者可确诊为亨廷顿病,一位未发病成员诊断为基因携带者,目前亨廷顿病仍无有效治疗手段,基因治疗为亨廷顿病治疗提供了新的方向。
OBJECTIVE: To perform a diagnostic analysis of a pediatric patient suspected of having Huntington’s disease, to provide genetic counseling and counseling to members of the pediatric family, and to present the current diagnosis and treatment of Huntington’s disease. Methods The clinical data of the pedigree were collected, including general information, cognitive function assessment, EEG, imaging information and genetic testing, and reviewed the latest literature. Results A total of 21 members of the family, 6 members participated in the gene sequencing, of which 3 gene sequencing was positive. Conclusions Gene diagnosis is the most important diagnostic method for Huntington’s disease. Two patients in the pedigree are diagnosed as Huntington’s disease. One unidentified member is diagnosed as a gene carrier. Currently, there is no effective treatment for Huntington’s disease. Gene therapy is provided for the treatment of Huntington’s disease A new direction