Correlation of Genetical Point Mutation of Platelet Activating Factor Acetylhydrolase and Primary Nephritic Syndrome / 实用儿科临床杂志

ABSTRACT

Objective To release the correlation of point mutation of platelet activating factor acetylhydrolase(PAF-AH)gene and primary nephritic syndrome (PNS).Method According to the effect of hormonal therapy,94 children with PNS were divided into three groupssteroid-sensitive nephritic syndrome(SSNS),steroid-resistent nephritic syndrome(SRNS),steroid-dependent nephritic syndrome(SDNS).The point mutation of PAF-AH gene (G994T) were identified by molecular biology technique in children with PNS and 239 healthy children were set as control group.Results No statistics differences were found relating to the genotype and allele frequencies between patients with PNS,SSNS,SRNS and normal controls.But it is confirmed that the genotype and allele frequencies among patients with nephritic type nephritic syndrome (NTNS)was higher than patients with simple type nephritic syndrome(STNS) and normal controls.SDNS was higher than both SSNS and normal controls.The number of relapses during the first year after onset was significantly higher in the patients who were heterozygous for the mutant allele (GT) or homozygotes (TT) than in those of the GG homozygotes.Conclusion Most PNS children with PAF-AH gene mutation occurred at position 994 were NTNS.The risk of relapse during the treatment period was higher in patients with PAF-AH gene mutation occurred at position 994.