法布里病
医学
酶替代疗法
疾病
多学科方法
肾病科
神经学
重症监护医学
多学科团队
疾病管理
内科学
儿科
护理部
精神科
社会科学
社会学
帕金森病
出处
期刊:PubMed
[National Institutes of Health]
日期:2023-08-01
卷期号:62 (8): 949-955
被引量:2
标识
DOI:10.3760/cma.j.cn112138-20230218-00095
摘要
Fabry disease is a rare X-linked hereditary condition caused by mutations in the α-galactosidase A (GLA) gene, resulting in decreased α-GAL A enzyme activity. The clinical manifestations of Fabry disease are diverse, which leads to delays in diagnosis and treatment, thereby increasing the disease burden for patients and their families. Given its characteristics, multidisciplinary treatment (MDT) is critical for the long-term management of Fabry disease, and should include nephrology departments, cardiovascular departments, neurology departments, and pediatric department, among others. This study focuses on early screening for Fabry disease, the indication for initiating enzyme replacement therapy, pre-treatment evaluation, and monitoring to provide practical guidance for Chinese clinicians.
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