Fabry disease: One year on migalastat treatment
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Fabry disease
kidney disease
rare diseases
case report

How to Cite

Vasquez Gomez JC, Tobón Pereira JC. Fabry disease: One year on migalastat treatment . Rev. Colomb. Nefrol. [Internet]. 2022 Sep. 23 [cited 2024 Jul. 16];9(2). Available from: https://revistanefrologia.org/index.php/rcn/article/view/586


Introduction: Fabry disease, or Anderson-Fabry disease, is a lysosomal deposition disease caused by deficiency or absence of the enzyme ?-galactosidase A, which is responsible for the catabolism of the glycosphingolipid globotriaosylceramide (Gb3).

Purpose: This article reports the case of a patient who, at the age of 64 years with a diagnosis of Fabry disease, begins treatment with the new oral chaperone (migalastat), with evidence of improvement in his natural history of the disease.

Case presentation: A 64-year-old male patient, native of Porto-Portugal, resident in Medellin-Colombia, with Fabry disease diagnosed in 2010, due to Alpha Galactosidase A activity plus phenotyping mutation C.239G>A.

Discussion and conclusions: This case report has shown the adequate response of the patient in management with the pharmacological chaperone migalastat. Therefore, a patient with Fabry disease, with typical manifestations and a confirmed GLA mutation and who is susceptible to migalastat, has this excellent therapeutic option with favorable results for his signs and symptoms.

Migalastat (pharmacological chaperone) is an effective and safe oral treatment which translates into comfort and benefits for the patient and his environment, and this allows a significant improvement in the patient's quality of life.

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