Research progress on biomarkers of Fabry's disease / 医学研究生学报

ABSTRACT

Fabry disease (FD) is a rare X⁃linked lysosomal storage disorder. It is characterized by deficient activity of α⁃galactosidase A, which causes the storage of globotriaosylceramide in tissues and organs, leading to fatal complications and poor prognosis. Therefore, it is essential to use the possibilities of specific biomarkers for early diagnosis, identification of organ involvement and therapy monitoring. Lyso⁃Gb3 is a valuable biomarker to establish the diagnosis and also important for evaluating the pathogenic mutations. Proteinuria and creatinine are the most valuable biomarkers to detect renal damage. Troponin I and high⁃sensitivity assays for cardiac troponin T can identify the patients with myocardial injury. This article mainly reviews the markers of FD⁃related target organs such as kidney, heart and nervous system damage and its guiding value for disease progression, curative effect and prognosis evaluation.