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川崎病时免疫球蛋白治疗的抵抗与血浆血小板活化因子乙酰水解酶基因的多态性有关 被引量:1

A polymorphism in plasma platelet-activat-ing factor acetylhydrolase is involved in resistance to immunoglobulin treatment in Kawasaki disease
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摘要 To investigate whether reduced levels of plasma platelet-activating factor acetylhydrolase (PAF-AH) as a result of a genetic polymorphism are involved in the pathogenesis of Kawasaki disease (KD). Study design: The frequency of a V279F polymorphism (G/T transversion) in the PAF-AH gene was quantified in 76 Japanese children with KD and 112 healthy Japanese adults using the allele- specific polymerase chain reaction (PCR). Associations between genotype, clinical features, and resistance to intravenous immunoglobulin (IVIG) were investigated in the patients with KD. Plasma PAF-AH activity was measured by using [3H]- acetyl-PAF. Results: There were no significant differences in genotype frequency between patients and controls (P = .51). Compared with the GG (normal genotype) group, significantly more patients in the GT (heterozygous) + TT (homozygous deficient) group required additional IVIG (52% vs 14% , P = .001). The duration of fever and maximum serum C-reactive protein (CRP) levels also were significantly increased in the GT+ TT group (P = .012 and .036, respectively), whereas plasma PAF-AH activity was significantly lower (P < .0001). Conclusion: We conclude that the V279F polymorphism in the plasma PAF-AH gene and consequent enzymatic deficiency is one of the factors for IVIG nonresponse in Japanese patients with acute KD. To investigate whether reduced levels of plasma platelet-activating factor acetylhydrolase (PAF-AH) as a result of a genetic polymorphism are involved in the pathogenesis of Kawasaki disease (KD). Study design: The frequency of a V279F polymorphism (G/T transversion) in the PAF-AH gene was quantified in 76 Japanese children with KD and 112 healthy Japanese adults using the allele- specific polymerase chain reaction (PCR). Associations between genotype, clinical features, and resistance to intravenous immunoglobulin (IVIG) were investigated in the patients with KD. Plasma PAF-AH activity was measured by using [3H]- acetyl-PAF. Results: There were no significant differences in genotype frequency between patients and controls (P = .51). Compared with the GG (normal genotype) group, significantly more patients in the GT (heterozygous) + TT (homozygous deficient) group required additional IVIG (52% vs 14% , P = .001). The duration of fever and maximum serum C-reactive protein (CRP) levels also were significantly increased in the GT+ TT group (P = .012 and .036, respectively), whereas plasma PAF-AH activity was significantly lower (P < .0001). Conclusion: We conclude that the V279F polymorphism in the plasma PAF-AH gene and consequent enzymatic deficiency is one of the factors for IVIG nonresponse in Japanese patients with acute KD.
出处 《世界核心医学期刊文摘(儿科学分册)》 2005年第12期34-35,共2页
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