Proteinuria in Alport Syndrome: Treatment With Sodium-Glucose Co-Transporter-2 (SGLT2) Inhibitors

Alport syndrome (AS) is a genetic disorder characterized by progressive kidney disease, hearing loss, and eye abnormalities. It is caused by mutations in the genes responsible for producing type IV collagen, which is a crucial component of the glomerular basement membrane, the cochlea, and the lens of the eye. We present a case of a 40-year-old female who presented with persistent microscopic hematuria and proteinuria and was diagnosed with autosomal dominant AS based on kidney biopsy and genetic testing. This case report discusses the clinical presentation, diagnostic work-up, and management approach of patients with AS. We highlight the current advancement in management of CKD with SGLT 2 inhibitors, with limited research regarding the benefit of sodium-glucose cotransporter-2 inhibitors (SGLT2i) in patients with genetic disorders like AS. Early recognition and management of AS with ACE inhibitors and SGLT2i are vital to prevent irreversible kidney damage and other complications. Genetic testing and multidisciplinary care play key roles in the treatment of AS.