Arquivos brasileiros de cardiologia · 2025
Fabry Disease and Its Different Phenotypes.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Antunes Murillo Oliveira, Nastari Rafael Ruas, Arteaga-Fernandez Edmundo, Lizandro Marcelle G Henriques, El-Feghaly William Batah, Ferreira Guilherme José Dos Santos, Martins Alan Silva, Leguizamon Juliana Alzira Gonzales Oliveira, Correia Vinicius Machado, Madrini Junior Vagner, Fernandes Fábio
Аннотация
Fabry disease (FD) is an X-linked genetic condition caused by variants in the GLA gene causing enzyme α-galactosidase A deficiency and accumulation of globotriaosylceramide (Gb3) in tissues such as the heart, kidneys, and the nervous system. This study reports a case series of patients with FD, highlighting the phenotypic diversity of the disease, which can be confused with other cardiological conditions. When properly indicated, genetic evaluation, combined with biomarker dosage and α-galactosidase enzymatic activity, is key for an accurate diagnosis. Early diagnosis of FD is fundamental for initiating treatments that can slow disease progression and prevent serious complications, reinforcing the need for greater awareness about this condition among cardiologists.