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, and patients with autosomal dominant forms of AS (ADAS) were previously reported to progress to end-stage renal disease at a later age. This article reported a patient who was diagnosed with ADAS in the Pediatric Nephrology Department of the First Affiliated Hospital of Henan University of CM on September 5, 2019 because of abnormal urine test findings for 4 years. The clinical data and genetic test results were reviewed. We reported the clinical, renal pathology and gene mutation of a ADAS family caused by the new mutation c.3506-3528del (p.G1169Efs^*13) of COL4A4 gene (One family member developed end-stage renal disease at the age of 31). We also summarized the literature reports of Chinese ADAS, and made a comprehensive analysis of the relationship between the gene, clinical phenotype and prognosis of the disease. Due to the low incidence of ADAS, this family report expands the gene mutation spectrum of AS, and helps to improve clinicians' awareness and timely diagnosis and treatment of rare-onset ADAS.

Alport综合征（AS）是慢性肾脏病和终末期肾脏病（ESRD）的重要病因之一，是继常染色体显性遗传性多囊肾后第二常见的遗传性肾脏疾病。常染色体显性遗传是AS中非常少见的遗传方式，既往报道常染色体显性遗传AS（ADAS）患者进展至ESRD年龄较晚。本文报道1例因发现尿检异常4年于2019-09-05就诊于河南中医药大学第一附属医院儿科肾脏病区确诊为ADAS患者的临床资料及基因检测结果并复习相关文献。报道了COL4A4基因新发变异c.3506-3528del（p.G1169Efs^*13）所致ADAS家系（该家系中1名成员在31岁时已进展至ESRD）的临床、肾脏病理及基因突变情况，并总结了中国ADAS的文献报道，对该病的基因和临床表型、预后之间的关系做了较全面地分析。由于ADAS发病率低，此家系报道扩展了AS的基因突变谱，有助于提高临床医生对罕见发病的ADAS的认识和及时诊治。