摘要
目的探讨结节性硬化症(Tuberous sclerosis complex,TSC)患者癫痫发作的发病年龄与基因型、临床表型及雷帕霉素治疗效果之间的相互关系。方法回顾性分析2013年10月—2018年12月在广东三九脑科医院确诊的以癫痫发作就诊的TSC患者的临床资料,综合分析癫痫发病年龄与基因型、基因类型、临床表型及雷帕霉素疗效之间的关系。结果共有104例以癫痫发作就诊的TSC患者均进行了TSC基因检测,其中85例(81.7%)为基因阳性,男44例(51.8%),女41例(48.2%),平均年龄(4.0±4.9)岁。TSC134例(40.0%),TSC251例(60.0%)。对上述患者按年龄进行分组:≤1岁、1~6岁及≥6岁,其中≤1岁组有31例(36.5%)、1~6岁组31例(36.5%)、≥6岁组23例(27.0%)。经统计分析,发现TSC1及TSC2基因突变患者的癫痫发病年龄具有统计学差异(χ2=9.030,P=0.011)。进一步对癫痫发病年龄与其他临床表型的关系进行分析发现,不同的癫痫发病年龄组发生智力低下及痉挛发作的概率有统计学差异(P均<0.05)。此外,在癫痫发病年龄≤1岁的患儿中有较易出现肾脏病变的倾向,在癫痫发病年龄≥6岁的患者中有较易出现室管膜下巨细胞星形细胞瘤的倾向。而癫痫发病年龄对雷帕霉素药物治疗效果无统计学差异(P>0.05)。结论TSC2突变患者癫痫发病年龄早,癫痫发病年龄≤1岁的患儿更易出现智力低下及痉挛发作。对癫痫发病年龄的多因素研究对判断TSC伴癫痫发作患者疾病的发展及预后具有一定的指导作用。
Objective To investigate the relationships between the onset age,genotype,clinical phenotype and the efficacy of Rapamycin in patients with tuberous sclerosis complex.Methods Retrospectively analyze the clinical data of patients with tuberous sclerosis complex(TSC)who were diagnosed with epilepsy in Guangdong Sanjiu Brain Hospital from October 2013 to December 2018.Meanwhile,the relationships between the onset age of epilepsy and genotype,clinical phenotype and Rapamycin efficacy were analyzed comprehensively.Results TSC gene was detected in 104 patients with tuberous sclerosis complex,of which 85(81.7%)were positive and 44(51.8%)were males as well as 41(48.2%)were females,with an average age of(4.0±4.9)years old.And there were 34(40.0%)TSC1 mutations and 51(60.0%)TSC2 mutations.The patients were divided into 3 groups according to their ages:≤1 year old,1~6 years old and≥6 years old.Among them,31 cases(36.5%)were in the≤1 year old group,31 cases(36.5%)in the 1~6 years old group and 23 cases(27.0%)in the≥6 years old group.Through statistical analysis,we found that the onset age of epilepsy in patients with TSC1 and TSC2 gene mutations was statistically different(χ2=9.030,P=0.011).Further analysis of the relationship between the onset age of epilepsy and other clinical phenotypes showed that there were statistical differences in the probability of mental retardation and spasm seizure in different onset age groups of epilepsy(P<0.05).In addition,patients with epilepsy onset age≤1 year old are more likely to have renal disease and patients with epilepsy onset age≥6 years old are more likely to have SEGAs.There was no significant difference between the onset age of epilepsy and the efficacy of Rapamycin(P>0.05).Conclusion TSC2 mutation,mental retardation and spasm seizure are more likely to occur in patients with epilepsy onset age≤1 year old.The study on multiple factors of epilepsy onset age may have a certain guiding role in judging the development and prognosis of TSC with epilepsy.
作者
郭静
李淡芳
闫宏钧
李花
GUO Jing;LI Danfang;YAN Hongjun;LI Hua(Eipleptic Centre,Guangdong 999 Brain Hospital,Guangzhou 510510,China)
出处
《癫痫杂志》
2020年第3期188-192,共5页
Journal of Epilepsy
基金
广东省医学科学技术研究基金项目(B2019105)。
