Platelet-activating factor acetylhydrolase gene mutation in Japanese nephrotic children.

点击翻译按钮获取中文摘要

Platelet-activating factor (PAF) may be involved in the pathogenesis of steroid-responsive nephrotic syndrome (SRNS). PAF is degraded to inactive products by PAF acetylhydrolase. We have investigated whether PAF acetylhydrolase gene mutation (G994T) is involved in SRNS in Japanese children. We identified a point mutation in the PAF acetylhydrolase gene (G to T transversion at position 994) using the polymerase chain reaction in 101 Japanese children with SRNS and 100 healthy Japanese. We then determined the relationship between the PAF acetylhydrolase G994T gene mutation and relapse of nephrotic syndrome. There was no difference in the genotype and allele frequencies between patients with SRNS and normal controls. The mean number of relapses during the first year after onset was significantly higher in the 26 patients who were heterozygous for the mutant allele (GT) than in 75 wild-type homozygotes (GG) (2.61±1.98 vs. 1.33±1.35 ; p=0.0019). Patients with the mutant (GT) genotype relapsed more often than patients with the wild-type (GG) genotype (xィイD12ィエD1)=15.8, p=0.0033). We conclude that analysis of the PAF acetylhydrolase gene mutation at position 994 in Japanese children with SRNS allows the identification of patients who are more likely to have disease relapse.