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目的分析与探讨原发性发作性运动障碍(PD)的3种类型:发作性运动诱发性运动障碍(PKD)、发作性非运动诱发性运动障碍(PKND)、发作性劳累诱发性运动障碍(PED)临床特征、基因学研究及治疗与疗效。方法对2010年1月至2012年11月复旦大学附属儿科医院8例PD患儿进行表型分析。收集临床资料及外周血DNA,采用PCR和DNA直接测序方法进行PKD致病基因PRRT2基因、PNKD致病基因MR1基因和PED致病基因SLC2A1基因突变筛查。治疗并观察近期治疗疗效。结果 8例PD患儿中,PKD患儿4例、PNKD患儿2例、PED患儿2例。对3例PKD和1例PNKD进行PCR和DNA直接测序,未检出突变。对1例PED患儿进行PCR和DNA直接测序和比较基因组杂交(aCGH)检测,未检测突变。对3例PKD进行治疗,其中2例对奥卡西平治疗有效,1例对氯硝西泮治疗有效;对1例PNKD患儿进行氯硝西泮治疗有效;对1例PED患儿进行生酮饮食治疗近期有效。结论 PD存在临床表型和遗传异质性。PD有不同表型,不同表型有不同的治疗选择。
Objective To analyze and explore three types of primary paroxysmal dyskinesia (PD): paroxysmal motor-induced dyskinesia (PKD), paroxysmal non-motor-induced dyskinesia (PKND), paroxysmal ataxia-induced dyskinesia PED) clinical features, genetics and treatment and treatment. Methods From January 2010 to November 2012, Fudan University Pediatric Hospital, 8 cases of PD children were phenotypic analysis. The clinical data and peripheral blood DNA were collected. PCR and DNA direct sequencing were used to screen the PRDT2 gene of PKD, MR1 gene of PNKD and SLC2A1 gene of PED. Treatment and observation of recent treatment. Results Among 8 PD children, 4 were PKD, 2 were PNKD and 2 were PED. Three cases of PKD and one case of PNKD were subjected to PCR and DNA direct sequencing, and no mutation was detected. PCR and DNA direct sequencing and comparative genomic hybridization (aCGH) assays were performed on 1 patient with PED and no mutations were detected. Three patients were treated with PKD, two of which were effective in the treatment of oxcarbazepine, one was effective in the treatment of clonazepam, one was effective in the treatment of clonazepam in children with PNKD, and one in the children with PED Diet therapy effective recently. Conclusion PD has clinical phenotype and genetic heterogeneity. PD has a different phenotype, different phenotypes have different treatment options.