X-linked alport syndrome presenting as bilateral lenticonus and end-stage renal disease

Abstract

Alport syndrome (AS) is a type of inherited nephropathy characterized by hematuria, proteinuria, and progressive renal failure; often associated with extrarenal manifestations such as sensorineural deafness and anterior lenticonus. X-linked AS causes end-stage kidney disease in young male patients, sometimes without prominent clinical manifestation beforehand due to its heterogeneous phenotype. Here, we report a case of AS where ignorance of visual and auditory symptoms led to progression to end-stage renal disease.