摘要
目的:研究血浆型血小板活化因子水解酶(PAF-AH)活性及PAF-AH基因-994位点基因型与原发性肾病综合征(PNS)病理类型的相关性。方法:用分光光度计定量法检测94例PNS患儿以及健康对照儿童60例的血浆PAF-AH活性,对其中激素耐药型肾病综合征(SRNS)患儿19例,激素依赖型肾病综合征(SDNS)患儿12例,行经皮肾穿刺活检术确定PNS的病理类型,依据其病理类型分为3组,系膜增生性肾小球肾炎(MsPGN)23例(67.64%),局灶节段性肾小球硬化(FSGS)5例(16.70%),微小病变型(MCNS)3例(8.82%),同时用分光光度计法测定各病理类型的血浆型PAF-AH活性,应用聚合酶链式反应(PCR)以及聚丙烯酰胺凝胶电泳分析检测不同组别的患儿血浆型PAF-AH基因第9外显子-994位点基因型及等位基因频率并进行不同组别的统计分析。结果:①患儿组血浆型PAF-AH活性显著高于健康对照组。②MsPGN组、FSGS组、MCNS组患儿的血浆型PAF-AH活性以及PAF-AH基因第9外显子-994位点3种基因型和等位频率差异均无统计学意义(P均>0.05)。③中度和重度MsPGN患儿血浆型PAF-AH活性显著低于轻度MsPGN(P均<0.05)。④中度和重度MsPGN患儿PAF-AH基因第9外显子-994位点基因突变频率显著高于轻度MsPGN患儿(P<0.05)。结论:血浆PAF-AH可能参与PNS的病理过程。血浆型PAF-AH活性及其基因第9外显子-994位点基因型与PNS病理改变可能无相对应的关系,但PAF-AH可能影响MsPGN病理轻重程度。
Objective： To investigate the activity of platelet activating factor acetylhydrolase （PAF-AH） in the children with primary nephritic syndrome. To clarify the varieties of platelet activating factor acetyl- hydrolase（PAF-AH） and it＇s genotype with different pathological type of primary nephritic syndrome （PNS）. Methods： The plasma PAF-AH activity was determined in 60 healthy children and 94 PNS children by spectrophotometer assay. Among the 94 PNS kids, 19 cases of steroid resistant patients and 12 cases of steroid-dependent patients, according to the pathological diagnosis confirmed by renal biopsies, 31 PNS children could be considered into 3 groups： Mesangial proliferative glomerulonephritis（MsPGN, n=3） and Focal segmental glomerulosclerosis（FSGS, n=5） as well as minimal change nephritic （MCNS, n =3）. The activity level of PAF-AH was assayed in 60 healthy children and PNS children. The point mutation of PAF-AH gene （G994T） was identified by polymerase chain reaction（PCR） in 31 cases of PNS. Result： The plasma PAF-AH activity was significantly higher than health control; No significant difference of the plasma PAF-AH activity was found in the groups of MsPGN, FSGS, MCNS patients. There was no difference in the allele frequencies and PAF-AH activity among the MsPGN, FSGS and MCNS patients. The PAF-AH activity was lower in the PNS children with moderate and heavy MsPGN than the minor. The gene mutation frequencies of moderate MsPGN were higher than minor MsPGN. Conclusion： The plasma PAF-AH may participate in the mechanism of PNS. There was no one-to-one relationship among the activity or genotype of PAF-AH in MsPGN, FSGS, and MCNS patients, but PAF-AH activity was likely correlated to the pathological observation in the type of MsPGN.
出处
《广西医科大学学报》
CAS
北大核心
2008年第6期867-870,共4页
Journal of Guangxi Medical University
基金
广西自然科学基金资助项目(No.桂科自0339043)
关键词
血小板活化因子水解酶
基因突变
肾病综合征
儿童
病理类型
platelet activating factor acetylhydrolase
point mutation
Primary nephritic syndrome
chil-dren
pathological type
