Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis

Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis

IntroductionFabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (α-Gal A) deficiency. Reduced or absent enzyme activity causes progressive lysosomal accumulation of globotriaosylceramide (Lyso-Gb3) in various cells throughout the body to trigger inflammation and f...

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Bibliographic Details
Main Authors: Nikola Gjorgjievski, Vlatko Karanfilovski, Todor Arsov, Pavlina Dzekova Vidimliski, Galisna Severeova Andreevska, Gjulshen Selim, Petar Dejanov, Vasilena Jordanova, Ivelina Marinova, Emil Paskalev, Igor G. Nikolov
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-08-01
Series:Frontiers in Genetics
Subjects:
Fabry disease
chronic kidney disease
hemodialysis
α-galactosidase A
X-linked disorder
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1415906/full

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https://www.frontiersin.org/articles/10.3389/fgene.2024.1415906/full

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