目的 探讨PAX 2基因变异致慢性肾脏病（CKD）的临床和基因变异特征。方法 回顾分析2例PAX 2基因变 异致CKD患儿的临床资料及家系基因检测结果，并在PubMed数据库及中国期刊全文数据库、万方数据知识服务平台检索 复习相关文献。结果 男女患儿各1例，均有蛋白尿及肾功能下降，例1处于CKD Ⅱ期，例2患儿处于CKD Ⅲ-Ⅳ期。基因 检测发现2例患儿PAX2基因均存在致病变异。检索到32例PAX2基因变异致CKD患儿，表现为肾脏发育不良、蛋白尿，亦 可有视神经缺损等肾外表现，部分患儿最终进展至终末期肾病。结论 PAX 2基因变异致CKD临床表型多样，相同变异位 点者临床表型也可有显著差异。基因测序有助于早期诊断，早期对症支持治疗有助于延缓肾功能下降。

Objective To investigate the clinical manifestation and genetic features of children with chronic renal disease caused by PAX 2 gene variation. Methods The clinical data and genetic test results of 2 children with chronic kidney disease caused by PAX 2 gene variation and their family members were retrospectively analyzed. Relevant literatures were searched and reviewed in PubMed database, China national knowledge infrastructure and Wanfang data knowledge service platform. Results Proteinuria and decreased renal function were observed in 1 boy and 1 girl. Case 1 was in stage Ⅱ of CKD, and case 2 was in stage Ⅲ-Ⅳ of CKD. Both of the 2 children carried pathogenic variations of PAX2 gene through genetic testing. A total of 32 CKD children caused by PAX2 gene variation were retrieved from database, presenting with renal dysplasia, proteinuria, and extra-renal manifestations such as optic nerve defects. Some of the children eventually progressed to end-stage renal disease. Conclusions PAX 2 gene variation associated kidney disease is a rare genetic disease with a variety of clinical phenotypes. Patients with the same variation site may have significant differences in their clinical phenotypes. Gene sequencing is helpful for early diagnosis, and early symptomatic supportive treatment can delay kidney function impairment.