Eleftheriadis Theodoros, Divani Maria, Poulianiti Christina, Polyzou-Konsta Maria-Anna, Lykotsetas Evangelos, Balatsouka Andriani, Ioannidis Ioannis, Stefanidis Ioannis
From the Department of Nephrology, Faculty of Medicine, University of Thessaly, Larissa, Greece.
Exp Clin Transplant. 2025 May;23(5):383-387. doi: 10.6002/ect.2025.0063.
Fabry disease is an X-linked lysosomal storage disorder characterized by impaired glycosphingolipid metabolism as a result of deficient or absent α-galactosidase A activity.This enzymatic defect leads to the progressive accumulation of glycosphingolipids within various tissues, resulting in multisystem involvement, including renal dysfunction, cardiovascular pathology, cerebrovascular complications, andperipheral neuropathy.This report presents the case of a 57-year-old female who underwent kidney transplant 5 years earlier because of end-stage renal disease of unknown etiology. Genetic screening identified the GLA gene variant c.937G>T (D313Y). The patient exhibited symptoms, including vertigo,tinnitus,headaches, andupperlimbparesthesia, alongside findings of left ventricular hypertrophy and microangiopathic white matter lesions. Initiation of migalastat therapy led to symptomatic improvement without adverse effects orthe need for modifications in her immunosuppressive regimen. After 33 months of migalastat therapy, renal function remained stable, left ventricular hypertrophy resolved, and no progression of cerebral white matter lesions was observed. Thus, migalastat was shown as a well-tolerated and effective therapeutic option for Fabry disease in kidney transplant recipients with amenable GLA mutations.
法布里病是一种X连锁溶酶体贮积症,其特征是由于α-半乳糖苷酶A活性缺乏或缺失导致糖鞘脂代谢受损。这种酶缺陷导致糖鞘脂在各种组织中逐渐积累,从而引起多系统受累,包括肾功能障碍、心血管病变、脑血管并发症和周围神经病变。本报告介绍了一例57岁女性患者,该患者5年前因病因不明的终末期肾病接受了肾移植。基因筛查发现了GLA基因变异c.937G>T(D313Y)。该患者表现出眩晕、耳鸣、头痛和上肢感觉异常等症状,同时伴有左心室肥厚和微血管性白质病变的表现。开始使用米加司他治疗后,症状得到改善,且无不良反应,也无需调整免疫抑制方案。经过33个月的米加司他治疗,肾功能保持稳定,左心室肥厚消退,未观察到脑白质病变进展。因此,对于具有合适GLA突变的肾移植受者中的法布里病患者,米加司他被证明是一种耐受性良好且有效的治疗选择。