中国结节性硬化症患者的临床特点及诊断现状分析

Clinical Features and Diagnosis of Patients with Tuberous Sclerosis Complex,a Current Evaluation in China

目的:回顾结节性硬化症(TSC)在中国的诊断现状,分析中国TSC患者的临床特点,促进TSC的识别、规范化诊治和管理。方法:在维普数据库、万方数据库、中国知网、中国生物医学文献数据库、PubMed数据库中全面检索2001年-2014年13年间国内外发表的关于中国患者TSC的269篇所涉及的3171例TSC患者从皮肤、神经系统、肾脏、心脏、肺等多系统的临床特点对文献进行了统计和分析,并对TSC患者遗传学方面的基因检测情况进行了归纳和总结。结果:对照2012年TSC诊断指南,在对诊断标准中主要指征的报道中,共有247篇文献对2607例TSC患者的皮肤损害进行了描述,212篇文献对2395例TSC患者的神经系统损害的影像学表现进行了报道,有55篇文献报道了对348例患者进行的眼底检查中发现多发性视网膜错构瘤84例,32篇文献报道了对282例患者进行的心脏彩超检查中发现162例心脏横纹肌瘤,45篇文献在对282例患者进行的胸片检查、20篇文献在对36例患者进行的胸部CT检查中共发现淋巴管肌瘤病50例。在98篇文献报道的对696例患者进行的肾脏超声检查、51篇文献报道的对221例患者进行的肾脏CT检查和2篇文献报道的对2例患者进行的肾脏MRI检查中共发现肾脏血管平滑肌脂肪瘤416例;在58篇文献报道的对586例TSC患者进行的肝脏超声检查、30篇文献报道的对104例患者进行的腹部CT检查、2篇文献报道的对3例患者进行的腹部MRI检查中共发现肝脏血管平滑肌脂肪瘤141例。在诊断标准中的次要指征的报道中,对多发性肾囊肿的报道最多,而对牙釉质凹陷、Confetti皮损的描述却几乎缺失。在其他临床表现的研究中,癫痫的相关文献最多,有关智力评估的文献尚缺乏客观的智力评估标准。遗传学基因检测逐渐成为近几年文献报道的热点。结论:在过去13年间,中国医生对TSC的诊治作出了很大贡献,但诊断过程中仍存在对疾病认识的不足和对全局观念的缺乏,推广新版指南的诊断标准对于中国医生是十分有意义的。

Objective: To retrospect the clinical features and the current situation of the diagnosis of patients with TSC in China to promote the identification, standardized diagnosis and management of patients with TSC. Methods: The literatures related to 3171 Chinese TSC patients selected from among 269 articles for further analysis with reference to the existence of skin lesions, neurological manifestations, renal, cardiac and pulmonary lesions were comprehensively searched in VIP, Wanfang, CNKI, CBM, and PubMed database from 2011 to 2014. Results: Compared to the main indications of the diagnostic criteria in 2012 TSC Diagnosis Guideline, a total of 247 papers described skin lesions on 2607 cases of TSC patients. The 2395 TSC patients from 212 papers were found to bear neurological lesion(s) based upon imaging data. A total of 84 TSC patients were reported to develop multiple retinal hamartoma as revealed by eye fundus examination on 348 patients studied in 55 papers. With color Doppler ultrasonography, 162 cases inflicted with rhabdomyoma of the heart were identified from out of 282 patients reported in 32 papers. X-ray chest film screening was conducted on282 patients in 45 papers and another 20 papers used chest CT scan to examine 36 patients, revealing up to a total of 50 cases of TSC patients with rhabdomyomatosis. Renal ultrasonongraphy was performed on 696 patients presented in 98 papers, while 221 cases in 51 papers had received renal CT scanning, and 2 separate papers described a total of 2 cases with renal MRI procedures, thus leading to the recognition of 416 cases of TSC to have angioleiomyoma in their kidneys. Through hepatic ultrasonography carried out for 586 cases with TSC in 58 papers, abdominal CT scan done on 104 cases in 30 papers and abdominal MRI on 3 cases in 2 papers, a total of 141 cases of TSC were found to have hepatic angioleiomyoma. In the reporting of secondary indications in diagnostic criteria, most of the multiple renal cystic disease were reported, but less oral fibroma and confetti skin lesion were reported. In the study about other clinical manifestations, the most reported were epilepsy, the literature about intelligence assessment still lacks objective intelligence evaluation standard. Genetic gene testing has gradually become the focus in recent years. Conclusion: Over the past 13 years, clinicians in China have done tremendously in diagnosing and treating the disease. However, due to the presence of misdiagnosis or omitted diagnosis,widespread adoption of TSC Diagnosis Guide would be advantageous.