作者：程敏，马敏江，崔小丽，邸伟，吕桦

单位：

1.710021陕西省西安市，西安医学院 2.710068陕西省西安市，陕西省人民医院神经内科 通信作者：吕桦，E-mail：3014887091@qq.com

Units：

1.Xi'an Medical University, Xi'an 710021, China 2.Department of Neurology, Shaanxi Provincial People's Hospital, Xi'an 710068, China Corresponding author: LYU Hua, E-mail: 3014887091@qq.com

关键词：

黄瘤病，脑腱性；CYP27A1；基因突变；病例报告

Keywords：

Xanthomatosis, cerebrotendinous; CYP27A1; Gene mutation; Case reports

CLC：

DOI：

10.12114/j.issn.1008-5971.2022.00.234

Funds：

陕西省自然科学基金面上项目（2022JM-533）；陕 西省自然科学基金青年项目（2021JQ-903）

摘要：

【摘要】　脑腱黄瘤病（CTX）是一种常染色体隐性遗传病，与细胞中CYP27A1基因突变相关，临床表型具有高 度异质性，且患者易发生严重并发症，包括严重的认知障碍和痴呆。胆汁酸替代疗法可以防止或延缓CTX病情进展。 本研究通过分析1例CYP27A1基因突变导致的CTX患者的诊疗过程，并结合文献对CTX的发病机制、临床表现、诊断及 治疗进行总结，旨在提高临床医师对CTX的认识及诊治水平。

Abstract：

【Abstract】 Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder associated with mutations in the CYP27A1 gene in cells. The clinical phenotype is highly heterogeneous, and patients are prone to severe complications, including severe cognitive impairment and dementia. Bile acid replacement therapy can prevent or delay the progression of CTX. This study analyzed the diagnosis and treatment process of a patient with CTX caused by CYP27A1 gene mutation, and summarized the pathogenesis, clinical manifestations, diagnosis and treatment of CTX based on the literature, aiming to improve clinicians' understanding of CTX and the level of diagnosis and treatment.

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