A novel COL4A4 gene mutation: autosomal dominant Alport syndrome with End-stage renal disease

Subjects: Medicine, Pharmacy >> Clinical Medicine submitted time 2022-07-26 Cooperative journals: 《中国全科医学》

郭婷 张建 丁樱 杨晓青 翟文生 宋纯东 张霞 张博 高旭光 刘丽雅

Abstract： Alport syndrome (AS) is one of the important causes of chronic kidney disease and end-stage renal disease. It is the second most common inherited kidney disease after autosomal dominant polycystic kidney disease. Autosomal dominant inheritance is a very rare mode of inheritance in AS. It has been reported that patients with autosomal dominant Alport syndrome (ADAS) progress to end-stage renal disease at a later age. This article summarizes the clinical and pathological features, as well as genetic mutations of a novel COL4A4 gene mutation c.3506-3528del (p.G1169Efs*13) in an ADAS family. One family member developed end-stage renal disease at the age of 31.

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