Lin Cheng-Jui, Yang Feng-Jung, Wu Chih-Jen, Wu Ming-Ju, Wu Mai-Szu
Division of Nephrology, Department of Internal Medicine, MacKay Memorial Hospital, Taipei, Taiwan.
Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Division of Nephrology, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan; College of Medicine, National Taiwan University, Taipei, Taiwan; Division of Nephrology, Department of Internal Medicine, National Taiwan University Hospital, Yunlin Branch, Douliu, Taiwan.
J Formos Med Assoc. 2025 Sep;124(9):794-799. doi: 10.1016/j.jfma.2024.09.033. Epub 2024 Oct 2.
The prevalence of Fabry disease (FD) among males with chronic kidney disease (CKD) of unknown etiology in Taiwan is 0.6%. Despite this, FD is frequently overlooked in clinical settings. To address this issue, two consensus meetings were conducted in Taiwan-one in August 2022 and another in April 2023. The first meeting established screening criteria based on age, gender, family history, cardiac involvement, and symptoms. The second meeting, with a multidisciplinary team, developed treatment recommendations. The consensus emphasizes the importance of proactive data collection in dialysis units and outpatient follow-ups to enhance FD detection and management. The screening algorithm recommends incorporating FD screening into the diagnostic process for CKD patients, regardless of age. Priority is given to patients with a family history of FD, early stroke history, or classical FD symptoms. Comprehensive screening is also advised for CKD patients without obvious classical symptoms. Screening protocols for males include measuring α-galactosidase A enzyme activity, with reduced activity leading to further tests such as lyso-Gb3 level quantification and genetic analysis. For females, the protocol involves evaluating lyso-Gb3 plasma levels and genetic testing. FD, though often underestimated, is more prevalent than recognized and necessitates a multidisciplinary approach for timely diagnosis. Enhancing awareness and adopting a comprehensive approach are essential for improving patient outcomes.
在台湾，病因不明的慢性肾脏病（CKD）男性患者中，法布里病（FD）的患病率为0.6%。尽管如此，FD在临床环境中仍经常被忽视。为解决这一问题，台湾召开了两次共识会议——一次在2022年8月，另一次在2023年4月。第一次会议根据年龄、性别、家族史、心脏受累情况和症状制定了筛查标准。第二次会议由多学科团队制定了治疗建议。该共识强调了在透析单位和门诊随访中积极收集数据对于加强FD检测和管理的重要性。筛查算法建议将FD筛查纳入CKD患者的诊断过程，无论年龄大小。优先考虑有FD家族史、早期中风史或典型FD症状的患者。对于没有明显典型症状的CKD患者，也建议进行全面筛查。男性的筛查方案包括测量α-半乳糖苷酶A酶活性，活性降低则需进一步进行如溶酶体Gb3水平定量和基因分析等检测。对于女性，该方案包括评估血浆溶酶体Gb3水平和基因检测。FD虽然常常被低估，但实际患病率高于人们的认知，需要采取多学科方法进行及时诊断。提高认识并采用全面的方法对于改善患者预后至关重要。
