Pediatric Nephrology, University of Minnesota Medical School, Minneapolis, MN.
Am J Kidney Dis. 2021 Feb;77(2):272-279. doi: 10.1053/j.ajkd.2020.03.026. Epub 2020 Jul 22.
Alport syndrome is a genetically and phenotypically heterogeneous disorder of glomerular, cochlear, and ocular basement membranes resulting from mutations in the collagen IV genes COL4A3, COL4A4, and COL4A5. Alport syndrome can be transmitted as an X-linked, autosomal recessive, or autosomal dominant disorder. Individuals with Alport syndrome have a significant lifetime risk for kidney failure, as well as sensorineural deafness and ocular abnormalities. The availability of effective intervention for Alport syndrome-related kidney disease makes early diagnosis crucial, but this can be impeded by the genotypic and phenotypic complexity of the disorder. This review presents an approach to enhancing early diagnosis and achieving optimal outcomes.
阿尔波特综合征是一种遗传性和表型异质性疾病，影响肾小球、耳蜗和眼部基底膜，由 COL4A3、COL4A4 和 COL4A5 基因突变引起。阿尔波特综合征可作为 X 连锁、常染色体隐性或常染色体显性遗传疾病进行传递。患有阿尔波特综合征的个体一生中发生肾衰竭、感音神经性耳聋和眼部异常的风险显著增加。由于针对与阿尔波特综合征相关的肾脏疾病的有效干预措施已经出现，因此早期诊断至关重要，但由于该疾病的基因型和表型复杂性，这可能会受到阻碍。本综述提出了一种改进早期诊断和实现最佳结果的方法。
