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
社会学
帕金森病
社会科学
出处
期刊:PubMed
日期:2023-08-01
卷期号:62 (8): 949-955
被引量:1
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.法布雷病是一种罕见的X染色体连锁遗传溶酶体贮积症,其早期临床表现异质性大,易漏诊、误诊,从而延误治疗,导致出现严重并发症,进而给患者及家庭、社会带来巨大的医疗与经济压力。基于法布雷疾病本身的多器官累及特点及目前治疗现状,多学科联合全程管理模式至关重要,应贯穿于法布雷病诊治的所有阶段,多学科包括肾内科、心血管内科、神经内科和儿科等。基于此,法布雷病专家协作组撰写了多学科联合全程管理路径,内容包括法布雷病的早期筛查、启动治疗的指证、治疗前评估及疗效监测等,为临床医生提供规范的法布雷病多学科联合全程管理策略。.
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