Objective:To analyze the mutation sites and characteristics of phospholipase CE1( PLCE1) gene in children with primary nephrotic syndrome(PNS) in Zhuang, Guangxi, China, so as to explore the expression status of PLCE1 protein in peripheral blood of PNS patients. Methods:(1)Blood samples of 154 Zhuang children with PNS and 98 healthy children of Zhuang nationality from July 2015 to September 2017 in Affiliated Hospital of Youjiang Medical College for Nationalities were collected to sequence PLCE1 gene with FastTarget target gene capture method in the combination with next generation sequencing.Based on the comparison between mutation results and information from the database, the pathogenicity, phenotype and distribution characteristics of these mutation sites were discovered and appraised.(2)The concentration of PLCE1 protein in serum samples were measured by enzyme-linked immuno sorbent assay, then the data of PNS group and healthy control group were compared and analyzed statistically with SPSS 25.0. Results:(1)A total of 18 low-frequency mutations of PLCE1 were observed, 5 of them(c.670C>T, c.578T>C, c.923G>T, c.4916C>T, and c. 5927_5929del) were found only in the PNS group, and 3 of them occurred in both PNS group and healthy control group: c.176C>T, c.389T>C, and c. 4304C>T.Five newly discovered mutations (c.923G>T, c.958T>A, c.1151C>T, c.2341A>G, and c. 3592G>C)were discovered and only c. 923 G>T is pathogenic mutation of PLCE1.(2)The concentration of PLCE1 protein in healthy control group was 414.65 (231.20, 729.81) ng/L and the level of PLCE1 in PNS group was 237.84 (116.14, 535.85) ng/L, ( Z=-3.212, P<0.001), and the value of PNS group was lower than that in the healthy control group. Conclusions:(1)As a new pathogenic mutation of PLCE1, c.923G>T was found.(2)The phenotype of PLCE1 gene mutation in Zhuang children with PNS was diverse, and they may differ by race and region.(3) PLCE1 protein of serum may act as a protective protein to guarantee various life activities of cells by participating in multiple signal transduction pathways.

CD2相关蛋白(CD2AP)是由CD2AP基因编码产生的一种足细胞裂孔隔膜分子,是肾小球滤过屏障形成的重要蛋白分子,其在维持足细胞结构形态以及生理功能中起至关重要的作用,多种肾脏疾病的发生与CD2 AP表达密切相关.本文就近年来CD2 AP的结构分布、与肾脏疾病的关系及相关分子机制进行综述.

目的 探讨槐杞黄颗粒对儿童原发性肾病综合征(PNS)的治疗作用及对细胞、体液免疫的影响.方法 采用前瞻性研究方法将68例住院并初诊为PNS的患儿随机分为泼尼松联合槐杞黄颗粒治疗组(观察组,33例)和单用泼尼松治疗组(对照组,35例).比较两组患儿随访至9个月时PNS复发率、维持缓解率、感染发生率,6 个月时隔日泼尼松用量及3、6、9个月时血清白蛋白、胆固醇水平及细胞、体液免疫功能.结果 观察组的感染发生率低于对照组,差异有统计学意义(P<0.05),无复发维持缓解率高于对照组,差异有统计学意义(P<0.05),6 个月时隔日泼尼松用量小于对照组,差异有统计学意义(P<0.05);随访至3、6个月时,两组血清白蛋白、胆固醇水平及细胞、体液免疫学指标检测差异均无统计学意义(P均>0.05),至9个月时观察组血清白蛋白明显高于对照组,差异有统计学意义(P<0.001),胆固醇两组比较差异无统计学意义(P>0.05),观察组CD3、CD4、CD19、NK百分比和血清IgA、IgG、IgM水平明显提高,CD8百分比明显降低,CD4/CD8比率明显增高,与对照组比较差异均有统计学意义(P<0.05、P<0.01或P<0.001);未发现槐杞黄相关的不良反应.结论 槐杞黄可减少PNS患儿复发率、维持较长时间的缓解,减少感染发生率及泼尼松用量,长期应用可提高PNS患儿的细胞和体液免疫功能,且显示了其治疗的安全性,对血浆胆固醇水平无影响.