原发性肾病综合征患儿血小板活化因子水解酶基因型与其活性的相关性分析

Relationship between Genotype of Platelet Activating Factor Acetylhydrolase and Its Activity in Children with Primary Nephritic Syndrome

目的探讨原发性肾病综合征(PNS)患儿血浆型血小板活化因子水解酶(PAF-AH)基因型与其活性的关系。方法利用分光光度计法测定94例初治PNS患儿血浆PAF-AH的活性,并应用PCR及聚丙烯酰胺凝胶电泳分析检测患儿血浆型PAF-AH基因第9外显子-994位点基因型及等位基因频率,并根据血浆型PAF-AH基因型的不同,将PNS患儿分为GG型组、GT型组和TT型组3组,再依据对激素治疗效应将PNS患儿分为3组:激素敏感型肾病综合征(SSNS)组37例、激素耐药型肾病综合征(SRNS)组26例和激素依赖型肾病综合征(SDNS)组31例。同时设立健康对照组60例,进行不同组别统计分析。结果 PNS组PAF-AH基因第9外显子-994位点基因型为GG型的患儿61例,GT型26例,TT型7例,而健康对照组相应基因型例数分别为47例、12例和1例。所有儿童中以GG型最多见,TT型最少见。PNS组和健康对照组GG型的血浆型PAF-AH活性显著高于GT型或TT型患儿,TT型最低。相同基因型的儿童,PNS患儿血浆型PAF-AH显著高于健康对照组。SSNS组、SRNS组及SDNS组相同基因类型血浆PAF-AH活性比较,差异无统计学意义。PNS组GG型血浆PAF-AH活性显著高于健康对照组。PNS组与健康对照组年龄和性别比较,差异均无统计学意义,3种不同基因型的PNS患儿之间总胆固醇差异亦无统计学意义。结论 PNS患儿血浆型PAF-AH不同基因型对相应血浆PAF-AH活性有明显影响,提示血浆PAF-AH可能参与了PNS的病理过程。

Objective To investigate the relationship between the genotype of platelet activating factor acetylhydrolase（PAF-AH） and its activities in children with primary nephritic syndrome（PNS）. Methods The plasma PAF-AH activity was determined by spectrophoto-meter assay.The point mutation of PAF-AH gene was identified by polymerase chain reaction and polyacrylamide gel electrophoresis in 94 cases with PNS according to their genotypes,and patients were classified into 3 subgroups：GG,GT and TT groups.According to their response to steroid application,the patients were classified into 3 subgroups：steroid-sensitive group（SSNS group,n=37） and steroid resistant group（SRNS group,n=26） as well as steroid-dependent group（SDNS group,n=31）.And 60 healthy children were assigned as healthy control group.The activities of different genotypes were analyzed statistically. Results There were 61 cases of genotype GG,26 cases of genotype GT and 7 cases of genotype TT in 94 cases with PNS.In the healthy control group,the number was 47 cases,12 cases and 1 case.Genotype GG was the most common genotype and TT was the less frequent type in all children.It was sure that the activities of PAF-AH were higher than those in genotype GG group,the activities in GG group was higher than those in TT group,and the activities of PAF-AH were higher in PNS patients than those in healthy control group with the same genotype.But there existed no difference in the same genotype in SSNS,SRNS and SDNS group.The activities of PAF-AH in GG group were higher in PNS group than those in the healthy control group.There was no significant difference in age and gender of PNS patients and the normal healthy children.There was no significant difference in the blood cholesterol among 3 different types of genotype groups of PNS patients. Conclusions The genotypes of PAF-AH can affect the PAF-AH activity.Gene mutation may play a role in the processing of PNS.