Sugiura Takuya, Muto Reiko, Amano Tatsuaki, Kamiya Fumitaka, Sato Yuka, Maeda Kayaho, Saito Shoji, Katsuno Takayuki, Kato Noritoshi, Higashi Michiko, Numaguchi Atsushi, Matsuda Naoyuki, Sugiura Kazumitsu, Maruyama Shoichi
Department of Nephrology, Nagoya University Graduate School of Medicine, Japan.
Department of Renal Replacement Therapy, Nagoya University Graduate School of Medicine, Japan.
Intern Med. 2025 Aug 1;64(15):2369-2374. doi: 10.2169/internalmedicine.4685-24. Epub 2025 Feb 8.
Fabry disease is a rare X-linked lysosomal storage disorder. Enzyme replacement therapies (ERTs), such as agalsidase α and β, are available treatment options. While infusion-related reactions (IRRs) are known to occur at the initiation of ERT owing to immune responses, there is limited information on IRRs during long-term ERT. We report the case of a female patient with Fabry disease who developed unexpected hypotension after six years of stable treatment with agalsidase α, leading to a switch to agalsidase β. Continuous monitoring may be essential to identify potential IRRs in female patients with Fabry disease receiving long-term ERT.
法布里病是一种罕见的X连锁溶酶体贮积症。酶替代疗法（ERTs），如α-半乳糖苷酶和β-半乳糖苷酶，是可用的治疗选择。虽然已知由于免疫反应，ERT开始时会发生输液相关反应（IRRs），但关于长期ERT期间IRRs的信息有限。我们报告了一例法布里病女性患者的病例，该患者在接受α-半乳糖苷酶稳定治疗六年后出现意外低血压，导致改用β-半乳糖苷酶。对于接受长期ERT的法布里病女性患者，持续监测可能对于识别潜在的IRRs至关重要。
