Abstract: 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.

Key words: PAX2 gene; proteinuria; chronic kidney disease; mesangial proliferative glomerulonephritis