SÍNDROME DE ALPORT: DESAFIOS NA ABORDAGEM DIAGNÓSTICA E TERAPÊUTICA

Abstract

Alport syndrome is a hereditary genetic disease characterized by progressive nephropathy, sensorineural hearing loss, and ocular abnormalities, resulting from mutations in genes responsible for the synthesis of type IV collagen, an essential component of the glomerular basement membrane. The genetic and phenotypic heterogeneity of the syndrome, associated with different inheritance patterns, poses significant challenges to early diagnosis and therapeutic management. This narrative review aimed to critically analyze the main challenges in the diagnostic and therapeutic approach to Alport syndrome, in light of the available scientific evidence. The bibliographic search was conducted in national and international databases, encompassing studies that addressed pathophysiological, clinical, diagnostic, and therapeutic aspects of the disease. The results show that persistent hematuria is the most frequent initial manifestation, while molecular diagnosis emerges as a fundamental tool for diagnostic confirmation, prognostic stratification, and genetic counseling. In the therapeutic context, the early use of renin-angiotensin-aldosterone system blockers has proven effective in reducing proteinuria and delaying the progression of kidney disease, although there is no specific curative treatment. It is concluded that early diagnosis, combined with individualized therapeutic strategies and the development of new therapeutic approaches, is essential for improving clinical outcomes and quality of life for patients with Alport Syndrome.