Sawada Takaaki, Kido Jun, Sugawara Keishin, Nakamura Kimitoshi
Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto City 860-8556, Japan.
Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto City 860-8556, Japan.
Diagnostics (Basel). 2021 Sep 27;11(10):1779. doi: 10.3390/diagnostics11101779.
Fabry disease (FD) is an X-linked inherited disorder caused by mutations in the gene, which encodes the lysosomal enzyme α-galactosidase A (α-Gal A). FD detection in patients at an early stage is essential to achieve sufficient treatment effects, and high-risk screening may be effective. Here, we performed high-risk screening for FD in Japan and showed that peripheral neurological manifestations are important in young patients with FD. Moreover, we reviewed the literature on high-risk screening in patients with renal, cardiac, and central neurological manifestations. Based on the results of this study and review of research abroad, we believe that FD can be detected more effectively by targeting individuals based on age. In recent years, the methods for high-risk screening have been ameliorated, and high-risk screening studies using next-generation sequencing have been conducted. Considering the cost-effectiveness of screening, sequencing should be performed in individuals with reduced α-Gal A activity and females with certain FD manifestations and/or a family history of FD. The findings suggest that family analysis would likely detect FD patients, although sequencing of asymptomatic family members requires adequate genetic counseling.
法布里病（FD）是一种X连锁遗传性疾病，由编码溶酶体酶α-半乳糖苷酶A（α-Gal A）的基因突变引起。对患者进行早期FD检测对于实现充分的治疗效果至关重要，高危筛查可能有效。在此，我们在日本进行了FD高危筛查，结果表明周围神经表现对于年轻FD患者很重要。此外，我们回顾了有关肾脏、心脏和中枢神经表现患者高危筛查的文献。基于本研究结果以及对国外研究的综述，我们认为根据年龄对个体进行靶向筛查可以更有效地检测FD。近年来，高危筛查方法已得到改进，并且已经开展了使用下一代测序的高危筛查研究。考虑到筛查的成本效益，对于α-Gal A活性降低的个体以及有某些FD表现和/或FD家族史的女性，应进行测序。研究结果表明，家族分析可能会检测出FD患者，不过对无症状家族成员进行测序需要充分的遗传咨询。
