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DOI 10.6002/ect.2025.0063

Медицинская библиотека · Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation · 2025

A Kidney Transplant Recipient Treated With Migalastat for Fabry Disease for 33 Months.

Eleftheriadis Theodoros, Divani Maria, Poulianiti Christina, Polyzou-Konsta Maria-Anna, Lykotsetas Evangelos, Balatsouka Andriani, Ioannidis Ioannis, Stefanidis Ioannis

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Аннотация

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.

Для цитирования: Eleftheriadis Theodoros, Divani Maria, Poulianiti Christina, Polyzou-Konsta Maria-Anna, Lykotsetas Evangelos, Balatsouka Andriani, Ioannidis Ioannis, Stefanidis Ioannis. A Kidney Transplant Recipient Treated With Migalastat for Fabry Disease for 33 Months.. Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation. 2025. DOI: 10.6002/ect.2025.0063.

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