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张林妹周渊峰柴毅明王佶吴冰冰王艺周水珍《中国循证儿科杂志》2016,11(3):219-222

目的分析结节性硬化(TSC)病例的临床表型和基因型特点,提高TSC诊断水平。方法回顾性纳入2013年8月至2015年9月复旦大学附属儿科医院符合2012年修订的TSC诊断标准并随访的TSC病例。截取脑部、皮肤、心脏、肾脏、眼底等临床特征资料,统计<1岁、~3岁、~6岁、～13岁和~18岁各临床特征的检出率。分析TSC基因突变与临床表型的相关性。结果 105例TSC病例进入本文分析,男54例,女51例。就诊年龄2月龄至12岁。 ①就诊原因：83例（79.0%）为癫发作,8例（7.6%）为皮肤异常,5例为心脏肿瘤。 ②39例（37.1%）未行基因检测,以临床特征确诊;66例行TSC基因检测病例中,符合临床特征确诊且TSC基因检测阳性47例（44.8%）,符合临床特征确诊但TSC基因检测阴性17例（16.2%）;可能符合临床特征诊断,TSC基因检测阳性2例（1.9%）。 ③临床特征总体检出率：室管膜下结节检出91/99例（91.9%）,脑皮质结构异常81/99例（81.8%）,在各年龄段检出率相近;皮肤病变中色素脱失斑97/105例（92.4%）,面部纤维腺瘤55/105例（52.4%）,鲨革斑46/105例（43.8%）,面部纤维瘤及鲨革斑随年龄增长检出率增高;心脏横纹肌瘤25/75例（33.3%）,检出率随年龄增长降低;肾脏病变14/71例（19.7%）,眼部病变5/37例（13.5%）。 ④TSC1基因突变15/66例（22.7%）,TSC2基因突变34/66例（51.5%）;TSC2基因突变病例痉挛发作更为常见（29.4% vs 13.3%）。结论 TSC可累及多种器官,在不同年龄段脑部病变检出率相近,心脏横纹肌瘤检出率不同。基因检测有助于临床疑似病例的诊断。相似文献

Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience

Darcy A. Krueger Jamie K. Capal Paolo Curatolo Orrin Devinsky Kevin Ess Michal Tzadok Mary K. Koenig Vinodh Narayanan Federico Ramos Sergiusz Jozwiak Petrus de Vries Anna C. Jansen Michael Wong David Mowat John Lawson Stephanie Bruns David Neal Franz 《European journal of paediatric neurology》2018,22(6):1066-1073

Objective

To evaluate the safety of mTOR inhibitors (sirolimus or everolimus) in infants and very young children with tuberous sclerosis complex (TSC) under two years of age.

Methods

Study design was retrospective to capture medical record data from 52 international TSC Centres who initiated treatment with sirolimus or everolimus in TSC children before the age of two years. Data collection included demographic and clinical information including reason(s) for initiating treatment with mTOR inhibitors, treatment duration, dosing, and corresponding serum trough levels, response to treatment, and adverse events (AE).

Results

19 of 52 (37%) TSC Centres reported treatment of at least one child with TSC under the age of two years with everolimus or sirolimus. Treatment-related data were provided for 45 patients meeting inclusion criteria. Everolimus was utilised 87% of the time, compared to 24% for sirolimus (5 subjects, 11%, were treated separately with both). Refractory epilepsy (45%) was the most common primary reason for initiating treatment and treatment was initiated on average at 11.6 ± 7.6 months of age. At least one AE, suspected or definitely treatment-related, occurred in 35 of 45 (78%) treated subjects. Most AEs were mild (Grade 1) or moderate (Grade 2) in severity and most commonly related to infections. Severe AE (Grade 3) was reported in 7 subjects (20%) and no life-threatening AE (Grade 4) or death/disability (Grade 5) was reported. Treatment was discontinued due to an AE in 9 of 45 (20%).

Conclusions

Everolimus, and to a lesser extent sirolimus, are increasingly being used to treat TSC infants and very young children for multiple TSC-associated clinical indications. While AEs were common, most were not severe and did not prevent continued treatment in the majority of this younger population. 相似文献