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Revista Colombiana de Nefrología
On-line version ISSN 2500-5006
Abstract
TOBON PEREIRA, Juan Carlos and VASQUEZ GOMEZ, Juan Camilo. Fabry disease: One year on migalastat treatment. Rev. colom. nefrol. [online]. 2022, vol.9, n.2, 405. Epub Aug 01, 2022. ISSN 2500-5006. https://doi.org/10.22265/acnef.9.2.586.
Introduction
Fabry disease, or Anderson-Fabry disease, is a lysosomal deposition disease caused by deficiency or absence of the enzyme α-galactosidase A, which is responsible for the catabolism of the glycosphingolipid globotriaosylceramide (Gb3).
Objective
To present the evolution of the case of a patient diagnosed with Fabry disease, treated with Migalastat, seeking to contribute to local medical scientific knowledge in the management of Fabry disease with new treatment options, considering the need to generate real-world evidence in a rare disease such as the one mentioned.
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.
Keywords : Fabry disease; Migalastat; kidney disease; globotriasylceramide; rare diseases; case report..