Xu H, Iijima K, Shiozawa S, Tanaka S S, Inoue Y, Shirakawa T, Nishiyama K, Miwa M, Nakamura H, Yoshikawa N
Department of Pediatrics, Kobe University School of Medicine, Japan.
Kidney Int. 1998 Dec;54(6):1867-71. doi: 10.1046/j.1523-1755.1998.00215.x.
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 is involved in SRNS in Japanese children.
We identified a point mutation in the PAF acetylhydrolase gene (G994T) using the polymerase chain reaction in 101 Japanese children with SRNS and 100 healthy Japanese.
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).
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 a disease relapse.
血小板活化因子（PAF）可能参与激素敏感性肾病综合征（SRNS）的发病机制。PAF 被 PAF 乙酰水解酶降解为无活性产物。我们研究了 PAF 乙酰水解酶基因突变是否与日本儿童的 SRNS 有关。
我们使用聚合酶链反应在 101 名患有 SRNS 的日本儿童和 100 名健康日本人中鉴定了 PAF 乙酰水解酶基因中的一个点突变（G994T）。
SRNS 患者与正常对照组之间的基因型和等位基因频率没有差异。在发病后第一年，26 名突变等位基因杂合子（GT）患者的复发平均次数显著高于 75 名野生型纯合子（GG）患者（2.61±1.98 对 1.33±1.35；P = 0.0019）。
我们得出结论，对患有 SRNS 的日本儿童中 PAF 乙酰水解酶基因 994 位点的突变进行分析，可以识别出更有可能疾病复发的患者。
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