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

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.

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Publication Details

Journal
Experimental and Clinical Transplantation
Published
2025-05-01
DOI
https://doi.org/10.6002/ect.2025.0063
Primary Topic
Lysosomal Storage Disorders Research
Type
article
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article

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

Ioannis Stefanidis, Maria Divani, Theodoros Eleftheriadis, Christina Poulianiti et al.
Experimental and Clinical Transplantation
Lysosomal Storage Disorders Research
article

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

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

Abstract

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.

Experimental and Clinical TransplantationVol. 23(5)
University of Thessaly (GR)
Lysosomal Storage Disorders Research
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A Kidney Transplant Recipient Treated With Migalastat for Fabry Disease for 33 Months. — Ioannis Stefanidis, Maria Divani, et al. · Experimental and Clinical Transplantation (2025) | TGRS Research Map | TGRS