Pediatric Department, Peking University First Hospital, Beijing, China.
Pediatr Nephrol. 2018 Aug;33(8):1309-1316. doi: 10.1007/s00467-017-3784-3. Epub 2017 Sep 1.
Alport syndrome is a hereditary glomerular basement membrane disease caused by mutations in the COL4A3/4/5 genes encoding the type IV collagen alpha 3-5 chains. Most cases of Alport syndrome are inherited as X-linked dominant, and some as autosomal recessive or autosomal dominant. The primary manifestations are hematuria, proteinuria, and progressive renal failure, whereas some patients present with sensorineural hearing loss and ocular abnormalities. Renin-angiotensin-aldosterone system blockade is proven to delay the onset of renal failure by reducing proteinuria. Renal transplantation is a curative treatment for patients who have progressed to end-stage renal disease. However, only supportive measures can be used to improve hearing loss and visual loss. Although both stem cell therapy and gene therapy aim to repair the basement membrane defects, technical difficulties require more research in Alport mice before clinical studies. Here, we review the renal, auricular, and ocular manifestations and outcomes of Alport syndrome and their current management.
Alport 综合征是一种遗传性肾小球基底膜疾病，由编码 IV 型胶原α3-5 链的 COL4A3/4/5 基因突变引起。大多数 Alport 综合征病例为 X 连锁显性遗传，少数为常染色体隐性或常染色体显性遗传。主要表现为血尿、蛋白尿和进行性肾衰竭，而部分患者表现为感音神经性听力损失和眼部异常。肾素-血管紧张素-醛固酮系统阻断通过减少蛋白尿被证明可延缓肾衰竭的发生。肾移植是进展至终末期肾病患者的一种治愈性治疗方法。然而，对于听力和视力丧失，只能采用支持性措施进行治疗。尽管干细胞疗法和基因疗法均旨在修复基底膜缺陷，但由于技术困难，在进行临床研究之前，还需要在 Alport 小鼠中进行更多研究。在此，我们综述 Alport 综合征的肾脏、耳部和眼部表现和结局及其当前的治疗方法。
