Tomioka Daisuke, Takagi Shunsuke, Nakazeki Fumiko, Takagi Ayano, Fukazawa Ryosuke, Yoshiki Ueno, Mimura Yu, Kato Koichi, Sakai Hiroshi, Yamahara Kosuke, Kume Shinji, Nakagawa Yoshihisa
Department of Cardiology, Shiga University of Medical Science, Seta Tsukinowa-cho, Otsu, Shiga 520-0823, Japan.
Department of Cardiology, Otsu Red Cross Hospital, 1-1-35, Nagara-cho, Otsu, Shiga 520-0511, Japan.
Mol Genet Metab Rep. 2025 May 10;43:101227. doi: 10.1016/j.ymgmr.2025.101227. eCollection 2025 Jun.
Anderson-Fabry disease (AFD) is an X-linked lysosomal-storage disease caused by pathogenic variants in the gene encoding alpha-galactosidase A (). The purpose of this study was to investigate the clinical characteristics of patients with AFD and the types of medical specialists necessary to manage them in a prefecture with a population of 1.48 million.
We included patients with variants among patients diagnosed by genetic testing with AFD and managed at Shiga University of Medical Science from April 2010 and May 2024. The clinical information and data of the specialists engaged for the management of the patients were obtained from their medical records.
In this study, 14 individuals from five families (four males, 29 %) were diagnosed with AFD. The age at diagnosis ranged from 9 to 68 years (mean age 38 ± 20 years). The estimated prevalence in the prefecture was 0.99 per 100,000 people, 0.57 per 100,000 males, and 1.39 per 100,000 females. They received treatment by specialists from eight different departments, and the average number of departments in which they were managed was 3.3 overall, 4.2 for males, and 2.9 for females.
The family history and genetic testing are useful for the precise diagnosis and treatment of patients with AFD. As such patients require interdisciplinary treatment, interdepartmental cooperation should be promoted for their systemic care.
安德森 - 法布里病（AFD）是一种X连锁溶酶体贮积病，由编码α - 半乳糖苷酶A（）的基因中的致病性变异引起。本研究的目的是调查AFD患者的临床特征以及在一个拥有148万人口的县管理这些患者所需的医学专科类型。
我们纳入了2010年4月至2024年5月期间在滋贺医科大学通过基因检测诊断为AFD并接受管理的患者中携带变异的患者。从他们的病历中获取了参与患者管理的专科医生的临床信息和数据。
在本研究中，来自五个家庭的14名个体（4名男性，29%）被诊断为AFD。诊断时的年龄范围为9至6岁（平均年龄38±20岁）。该县的估计患病率为每10万人0.99例，每10万男性0.57例，每10万女性1.39例。他们接受了来自八个不同科室的专家治疗，总体上他们接受管理的科室平均数量为3.3个，男性为4.2个，女性为2.9个。
家族史和基因检测对AFD患者的精确诊断和治疗有用。由于此类患者需要多学科治疗，应促进部门间合作以对他们进行全面护理。
