タナカ　リョウジロウ   Ryojiro Tanaka   田中　亮二郎    所属   川崎医科大学  医学部 臨床医学　小児科学    職種   特任教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Platelet-activating factor acetylhydrolase gene mutation in Japanese nephrotic children.
掲載誌名	正式名：Kidney international 略　 称：Kidney Int ISSNコード：00852538/00852538
掲載区分	国外
巻・号・頁	54(6),pp.1867-71
著者・共著者	H Xu, K Iijima, S Shiozawa, R Tanaka , Y Inoue, T Shirakawa, K Nishiyama, M Miwa, H Nakamura, N Yoshikawa
発行年月	1998/12
概要	BACKGROUND: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.METHODS: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.RESULTS: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).CONCLUSIONS: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.
DOI	10.1046/j.1523-1755.1998.00215.x
PMID	9853251