两个中国男孩的致命病毒infection-associated脑病:由基因决定的风险因素的感热的肉碱palmitoyltransferase II变体。
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Mak厘米,林连续波、方数控Siu工作,李HC, Siu TS,赖昌星CK,法律CY,通科幻,Poon WT, Lam DS, Ng霍奇金淋巴瘤,袁YP, Tam年代,TL,邝NS,成龙啊
两个中国男孩的致命病毒infection-associated脑病:由基因决定的风险因素的感热的肉碱palmitoyltransferase II变体。
J哼麝猫。2011年8月,56(8):617 - 21所示。doi: 10.1038 / jhg.2011.63。Epub 2011年6月23日。
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21697855 (在PubMed]
- 文摘
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与流感相关的脑病(IAE)是一种潜在致命的神经系统并发症流感感染通常在高的存在和持续发烧。不耐热的肉碱palmitoyltransferase II酶(CPT-II)诱发IAE),到目前为止,只有在日本描述。基因起源的日本和中国是一样的,类似的遗传风险因子CPT-II预计。我们报告的前两个不相关的中国患者不耐热的变异式CPT-II持续高企fever-triggered病毒infection-associated脑病,多器官衰竭和死亡。升高(0 + C18:1) / C2 acylcarnitines比率和CPT2敏感性变异等位基因(p.Phe352Cys;p。Val368Ile)被检测到。无症状的一个病人的家属也有长链acylcarnitines异常。生化遗传学在我们的经验中,升高(0 + C18:1) / C2 acylcarnitines比率是热不稳定的不寻常的和特定CPT-II变体。等位基因频率的[p.Phe352Cys; p.Val368Ile] among Hong Kong Chinese was 0.104, similar to Japanese data, and [p.Phe352Cys] has not been reported in Caucasians. This may explain the Asian-specific phenomenon of thermolabile CPT-II-associated IAE. We successfully demonstrated the thermolabile CPT-II variants in patients with viral infection-associated encephalopathy in another Asian population outside Japanese. The condition is likely under-recognized. With our first cases, it is envisaged that more cases will be diagnosed in subsequent years. The exact pathogenic mechanism of how other factors interplay with thermolabile CPT-II variants and high fever leading to IAE, is yet to be elucidated. Fasting and decreased intake during illness may aggravate the disease. Further studies including high risk and neonatal screening are warranted to investigate its expressivity, penetrance and temperature-dependent behaviors in thermolabile CPT-II carriers. This may lead to discovery of the therapeutic golden window by aggressive antipyretics and L-carnitine administration in avoiding the high mortality and morbidity of IAE.