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	Role of platelet-activating factor acetylhydrolase gene mutation in Japanese childhood IgA nephropathy.
掲載誌名	正式名：American journal of kidney diseases : the official journal of the National Kidney Foundation 略　 称：Am J Kidney Dis ISSNコード：15236838/02726386
掲載区分	国外
巻・号・頁	34(2),pp.289-95
著者・共著者	R Tanaka, K Iijima, H Xu, Y Inoue, R Murakami, T Shirakawa, K Nishiyama, M Miwa, S Shiozawa, H Nakamura, N Yoshikawa
発行年月	1999/08
概要	Platelet-activating factor (PAF) is a potent mediator of inflammatory injury in renal diseases. PAF is degraded to inactive products by PAF acetylhydrolase. Recently, a point mutation (G to T transversion) of the PAF acetylhydrolase gene was observed at position 994, and this mutation was found to contribute to the variability in plasma PAF levels, with undetectable plasma PAF acetylhydrolase activity occurring in homozygous patients (TT genotype) and reduced levels of activity in heterozygous patients (GT genotype). Therefore, we investigated the effect of the PAF acetylhydrolase gene mutation on the pathogenesis and progression of immunoglobulin A (IgA) nephropathy. Genomic DNA was obtained from 89 children with IgA nephropathy and 100 controls. We identified the PAF acetylhydrolase gene mutation (G994T) by polymerase chain reaction. There was no significant difference in genotypic frequency between patients and controls. However, urinary protein excretion at the time of biopsy was significantly greater in patients with the GT/TT genotypes than in those with the GG genotype. The percentage of glomeruli with mesangial cell proliferation was significantly greater in patients with the GT/TT genotypes than in those with the GG genotype. These results indicate the PAF acetylhydrolase gene mutation may influence the degree of proteinuria and the extent of mesangial proliferation in the early stage of childhood IgA nephropathy.
DOI	10.1016/s0272-6386(99)70357-4
PMID	10430976