关键词: Alport 综合征, 治疗, 肾素 - 血管紧张素 - 醛固酮系统阻断剂, 基因治疗, 干细胞疗法

Abstract: Alport syndrome (AS) is a hereditary nephropathy caused by pathogenic variants in genes encoding type Ⅳ collagen α chains, with no strategies currently. Standard therapy involves renin-angiotensin-aldosterone system inhibitors, which significantly delay progression to end stage kidney disease. However, a proportion of patients still progressed to end stage kidney disease during adolescence or middle adulthood. Recently, studies in animal models and preclinical trials highlight the potential of novel agents, such as sodium-glucose cotransporter 2 inhibitors, next-generation non-steroidal mineralocorticoid receptor antagonists, and endothelin receptor antagonists, though further evidence-based validations are required. Gene therapy has made a breakthrough and shown partial restoration of glomerular basement membrane collagen architecture. Stem cell therapy holds potential for repairing glomerular basement membrane defects, but clinical translation requires validation. This review summarizes the current standard treatment and emerging therapies for AS, providing insights for clinical practice and future research.

Key words: Alport syndrome, therapy, renin-angiotensin-aldosterone system inhibitor, gene therapy, stem cell therapy