| 摘要: |
| 【】 目的 分析19例中国人脑腱黄瘤病(CTX)的临床特点,以提高对该病的认识。方法 查阅中国知网等数据库,再结合本院的1例确诊病例,回顾性分析2003年至今共19例中国人CTX的发病年龄、确诊年龄、临床表现、头颅MRI、病理、基因和生化等特点。结果 来自17个家系共19例患者的平均诊断周期17年。神经系统症状主要为行走不稳、智力低下和记忆力下降；非神经系统症状主要是双侧跟腱肿物和白内障。结论 这是首次系统性分析中国人脑腱黄瘤病的临床特点,发现CTX平均诊断周期长,因此临床医师应引起重视,提高对该病的诊断及鉴别诊断水平。 |
| 关键词: 脑腱性黄瘤病 临床特点 细胞色素P450 CYP27A1 胆固醇 |
| DOI：10.16781/j.0258-879x.2016.09.1180 |
| 投稿时间：2015-09-04修订日期：2016-04-13 |
| 基金项目: |
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| Clinical characteristics of Chinese patients with cerebrotendinous xanthomatosis: a report of 19 cases |
| ZHANG Liang-liang1,2,WANG Xun2*,CHENG Nan2,YANG Ren-min2 |
| (1. Graduate College of Anhui University of Chinese Medicine, Hefei 230038, Anhui, China;Department of Neurology, Affiliated Hospital of Neurology Institute, Anhui University of Chinese Medicine, Hefei 230061, Anhui, China) |
| Abstract: |
| 【】Objective In order to deepen the doctors’ understanding of Cerebrotendinous xanthomatosis(CTX),the writer analyzed the clinical characteristics of 19 Chinese patients who were diagnosed of CTX. Method By consulting the databases such as CNKI in China and then combining a confirmed case in our hospital, a retrospective analysis of onset age, age of diagnosis, clinical manifestation, CMRI, pathology, gene and biochemistry of 19 Chinese patients diagnosed of CTX was made. Result 19 patients from 17 families were enrolled. Their average diagnosis interval was as long as 17 years. Walking unstable, mental retardation and memory deterioration are the main neurological symptoms, and the primary non-neurological symptoms were bilateral Achilles tendon boss and cataract. Conclusion This is the first time to analyze the Chinese patients’ clinical characteristics of CTX. The doctor should pay attention to CTX and improve diagnosis and anti-diastole levels, because its average diagnosis interval is so long. |
| Key words: cerebrotendinous xanthomatosis clinical characteristics cytochrome P450 CYP27A1 cholesterol |
