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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Clinical manifestations, diagnosis, and management of renal involvement in Fabry disease
Wenkai Guo1,2, Jingru Bi1,3, Pengcheng Ji1
1Department of Nephrology, First Medical Center of Chinese PLA General Hospital, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing Key Laboratory of Medical Devices and Integrated Traditional Chinese and Western Drug Development for Severe Kidney Diseases, Beijing Key Laboratory of Digital Intelligent TCM for the Prevention and Treatment of Pan-vascular Diseases, Key Disciplines of National Administration of Traditional Chinese Medicine(zyyzdxk-2023310), Beijing, China.
Abstract:
Fabry disease is an X-linked hereditary lysosomal storage disease caused by variants in the GLA gene. These variants result in reduced or absent α-galactosidase A (α-Gal A) enzyme activity, leading to the progressive accumulation of enzyme metabolism substrates in multiple organs. This accumulation ultimately causes systemic clinical manifestations involving multiple organ systems. Renal involvement is a common clinical manifestation in Fabry disease and an important determinant of morbidity and disease progression. Early identification and active intervention of renal involvement in Fabry disease can effectively slow the progression of renal function deterioration and may significantly reduce the incidence of secondary cerebrovascular and cardiovascular events in advanced stages of Fabry disease nephropathy. This review summarizes the latest research advances on renal involvement in Fabry disease, covering its epidemiology, pathogenesis, clinical manifestations, diagnostic indicators, differential diagnosis and treatment strategies, in order to deepen the understanding of renal involvement in Fabry disease and reduce missed diagnosis and misdiagnosis.
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