Clinical manifestations, diagnosis, and management of renal involvement in Fabry disease.

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.