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中国循证儿科杂志

中国循证儿科杂志 ›› 2016, Vol. 11 ›› Issue (3): 219-222.

• 论著 • 上一篇    下一篇

结节性硬化105例临床特征和基因型分析

张林妹，周渊峰，柴毅明，王佶，吴冰冰，王艺，周水珍   

  1. 复旦大学附属儿科医院神经内科 上海，201102
  • 收稿日期:2016-04-01 修回日期:2016-06-25 出版日期:2016-06-25 发布日期:2016-06-25
  • 通讯作者: 周水珍

The analysis of clinical phenotype and genotype of tuberous sclerosis complex in 105 cases

ZHANG Lin-mei, ZHOU Yuan-feng, CHAI Yi-ming, WANG Ji, WU Bing-bing, WANG Yi, ZHOU Shui-zhen   

  1. Department of Neurology, Children′s Hospital of Fudan University, Shanghai 201102, China
  • Received:2016-04-01 Revised:2016-06-25 Online:2016-06-25 Published:2016-06-25
  • Contact: ZHOU Shui-zhen

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摘要：

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。

Abstract:

Objective To analyse the clinical phenotype and genotype of tuberous sclerosis complex (TSC) and improve the diagnostic level of TSC.Methods Patients were retrospectively collected from Aug. 2013 to Sept. 2015 hospitalized in Children′s Hospital of Fudan University, who were diagnosed with 2012 revised diagnostic criteria for TSC. Data of clinical phenotype included brain, skin, heart, kidney and eyes were intercepted. Patients were divided into the age of <1 year, -3 years, -6 years, -13 years and -18 years groups, statistics was made to get detection rate and the correlation was analysed between genetic mutation and clinical phenotype.Results A total of 105 cases diagnosed as TSC were recruited into the study including 54 males and 51 females. Age of visit was ranged from 2 months to 13 years. ① Reason for the first visit: 83 cases (79.0%) for seizure, 8 cases (7.6%) for abnormal of skin and 5 cases (4.8%) for cardiac tumor. ②39 cases (37.1%) were diagnosed only with clinical phenotype; 47(44.8%) with clinical phenotype and genetic testing; 2 cases (1.9%) with clinical suspicious but gene positive. ③Clinical characteristics detection rate: Subependymal nodules were in 91/99 cases(91.9%), cortical dysplasias were in 81/99 cases(81.8%), which was similar with other different age groups. Hypomelanotic macules were in 97/105 cases(92.4%), angiofibromas were in 55 cases(52.4%), shagreen patch in 46 cases(43.8%), the detection rate of angiofibromas and shagreen patch rised with age. Cardiac rhabdomyomas were in 25/75 cases(33.3%)，the detection rate descended with age; renal lesions were in 14/71 cases(19.7%); ocular lesions were in 5/37 cases(13.5%). ④TSC1 mutation was detected in 15/66 cases (22.7%)，TSC2 mutation was detected in 34/66 cases (51.5%)；spasm was more common in patients with TSC2 mutation (29.4% vs 13.3%).Conclusion TSC is an extremely variable disease that can affect multiple important organs. The detection rates of brain lesion were similar among different age and cardiac rhabdomyomas decreased with age. Gene test conduced to the diagnosis of clinical suspect cases.