Congenital nephrotic syndrome : a case report and literature review

The purpose of this study is to report the clinical characteristics and etiology of congenital nephrotic syndrome (CNS) in China by retrospectively analyzing one CNS case from the First Affiliated Hospital of Nanjing Medical University together with a total of 17 reported CNS cases from available Chinese literature. Most of the 17 cases originated in the eastern and central region of China. The male-to-female ratio was 8:9 and the onset age of 9 CNS cases was under 1 month. Genetic mutation and infection are the main causes of CNS, and mutations of NHPS1 have been verified in 12 cases. α-fetoprotein (AFP) level in amniotic fluid and maternal serum reflects fetal proteinuria, which may be a potential antenatal diagnostic marker of CNS. Symptomatic treatment was the most common used therapy for CNS. However, the prognoses of most patients were not satisfactory.