Pan Shujun, Yu Rizhen, Liang Shikai
Clinical School of Medicine, Hangzhou Normal University, Hangzhou, Zhejiang, China.
Urology & Nephrology Center, Department of Nephrology, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, China.
Front Genet. 2023 Jul 17;14:1216809. doi: 10.3389/fgene.2023.1216809. eCollection 2023.
Alport syndrome (#308940) is an X-linked genetic disease with clinical manifestations, such as hematuria, proteinuria, renal insufficiency, and end-stage renal disease. The disease is characterized by the thinning of the glomerular basement membrane in the early stages and the thickening of the glomerular basement membrane in the late stages and may be associated with ocular lesions and varying degrees of sensorineural deafness. Herein, we report a case of Alport syndrome caused by a mutation in . The patient was a young male with clinical manifestations of hematuria and massive proteinuria who was diagnosed with Alport syndrome based on renal pathology and genetic testing.
奥尔波特综合征（#308940）是一种X连锁遗传病，临床表现为血尿、蛋白尿、肾功能不全和终末期肾病。该病的特点是早期肾小球基底膜变薄，晚期肾小球基底膜增厚，可能伴有眼部病变和不同程度的感音神经性耳聋。在此，我们报告一例由[具体基因]突变引起的奥尔波特综合征病例。患者为青年男性，有血尿和大量蛋白尿的临床表现，根据肾脏病理和基因检测诊断为奥尔波特综合征。
