THEODOROS ELEFTHERİADİS, MARİA DİVANİ, CHRİSTİNA POULİANİTİ, MARİA ANNA POLYZOU KONSTA, EVANGELOS LYKOTSETAS, ANDRİANİ BALATSOUKA, IOANNİS IOANNİDİS, IOANNİS STEFANİDİS
Experimental and Clinical Transplantation - 2025;23(5):383-387
Fabry disease is an X-linked lysosomal storage disorder characterized by impaired glycosphingolipid meta-bolism 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, cerebro-vascular complications, and peripheral 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, and upper limb paresthesia, alongside findings of left ventricular hypertrophy and microangiopathic white matter lesions. Initiation of migalastat therapy led to symptomatic improvement without adverse effects or the 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.
