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

Platelet-activating factor （PAF） may be involved in the pathogenesis of steroid-responsive nephrotic syndrome （SRNS）。PAF被PAF乙酰水解酶降解为非活性产品。我们研究了PAF乙酰水解酶基因突变（G994 T）在日本儿童中的SRNS中的作用。我们确定了PAF乙酰水解酶基因中的点突变（G到T转换在第994号），使用101名日本儿童SRNS和100名健康日本儿童的聚合酶链反应。然后，我们确定了PAF乙酰水解酶G994 T基因突变和肾上腺综合征的关系。在患者与SRNS和正常控制的基因型和异常频率之间没有区别。第一年后的平均关系数量明显高于26个病人，他们比75个野生型同源物（GG）的变异性（GT）高（2.61±1.98对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-D12-D1）=15.8， p=0.0033）。我们将分析在994位对PAF乙酰水解酶基因突变的日本儿童进行的SRNS允许患者的身份更有可能出现疾病逆转。

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.