中国西南地区结节性硬化症19例并文献复习

Tuberous Sclerosis Complex in Southwest China:19 Cases Report and Literature Review.

目的总结中国西南地区结节性硬化症(TSC)的临床特点以及雷帕霉素治疗TSC的安全性及有效性。方法总结2021年3月至12月就诊于我的TSC患者的临床特征,并进行随访研究和文献复习。结果TSC1基因突变10例(52.6%),TSC2基因突变7例(36.8%),基因阴性2例(10.5%)。起病表现为婴儿痉挛4例,全面性癫痫7例,局灶性癫痫5例,以腹壁包块、腹痛、皮肤色素脱失起病各1例。室管膜下巨细胞星形细胞瘤2例(10.5%),室管膜下结节18例(94.7%),皮质或皮质下结节18例(94.7%),肾血管平滑肌脂肪瘤4例(21.1%),肾囊肿10例(52.6%),肝脏结节1例(5.0%),肺淋巴管肌瘤2例(10.5%),心脏横纹肌肉瘤3例(15.8%)。加用雷帕霉素治疗15例(78.9%),经治疗后癫痫发作控制100%6例(40.0%),50%~75%1例(6.7%),<50%8例(53.3%)。经雷帕霉素治疗后肾血管平滑肌脂肪瘤及肾囊肿均未再增长,不良反应为高脂血症、口腔溃疡、轻度贫血各1例,通过对症治疗均好转。结论TSC常导致多器官受累、难治性癫痫,雷帕霉素对癫痫的有效性为46.7%,且安全性较好。

Objective To summarize clinical characteristics of tuberous sclerosis complex(TSC)in southwestern China and safety and efficacy of rapamycin to treat TSC.Methods From March 2021 to December 2021,clinical characteristics of TSC patients who were treated in our hospital were summarized,and follow-up studies and literature review were conducted.Results There were 10 cases(52.6%)with TSC1 gene mutation,7 cases(36.8%)with TSC2 gene mutation,and 2 cases(10.5%)with negative gene mutation.The onset manifested as infantile spasms in 4 cases,generalized epilepsy in 7 cases,and focal epilepsy in 5 cases.There were subependymal giant cell astrocytoma in 2 cases(10.5%),subependymal nodules in 18 cases(94.7%),cortical or subcortical nodules in 18 cases(94.7%),renal angiomyolipoma in 4 cases(21.1%),renal cysts in 10 cases(52.6%),liver nodules in 1 case(5.0%),pulmonary lymphangiomyoma in 2 cases(10.5%),and cardiac rhabdomyosarcoma in 3 cases(15.8%).Rapamycin was added in 15 cases(78.9%),and seizures were controlled by 100%in 6 cases(40.0%),50%~75%in 1 case(6.7%),and<50%in 8 cases(53.3%).After rapamycin treatment,renal angiomyolipoma and cysts did not growed,and adverse reactions were hyperlipidemia,oral ulcers,and mild anemia in 1 case each,which were all improved through symptomatic treatment.Conclusion TSC would lead to multiple organ involvement and refractory epilepsy.This study shows that the efficacy of rapamycin on epilepsy is 46.7%,and the safety is good.