生物谷報(bào)道：在2008年1月8日的Neurology雜志上，德國(guó)海德?tīng)柋ご髮W(xué)研究人員稱(chēng)他們鑒定出一個(gè)與腦血栓形成有關(guān)的新基因,。一種叫做因子X(jué)II C46T的基因變異體在腦血栓患者中比健康個(gè)體中更為常見(jiàn),。腦血栓患者中的16.7％的人攜帶這種基因變異體，而健康個(gè)體攜帶這種突變得比率是5.5％,。研究人員表示,，這些結(jié)果目前雖然尚需要驗(yàn)證，但是它暗示出腦血栓患者有必要檢測(cè)這種基因,，并且在使用融血栓藥物時(shí)考慮這個(gè)因素,。
腦血栓又稱(chēng)缺血性腦中風(fēng)，中老年人發(fā)病較高,，據(jù)國(guó)內(nèi)外醫(yī)學(xué)統(tǒng)計(jì)資料表明：腦血栓的致死率幾乎占所有疾病的第一位,，有人將其稱(chēng)為“第一殺手”。尤其在我國(guó)及日本,，此病發(fā)生率更高,。因此提高對(duì)本病的認(rèn)識(shí)，增強(qiáng)自我預(yù)測(cè)能力,，對(duì)防止本病的發(fā)生發(fā)展有著重要意義,。腦血栓在一定程度上表現(xiàn)出了家族性,，這意味著與遺傳基因有關(guān)。2000年,，日本的科研人員曾稱(chēng),，他們利用基因芯片技術(shù)鑒定出1000個(gè)基因與腦血栓的形成有關(guān),。他們表示,，進(jìn)一步詳細(xì)分析這些基因的作用，將有助于開(kāi)發(fā)腦血栓診斷方法和治療藥物,。
目前,，由于醫(yī)療檢查技術(shù)提高，到有條件的進(jìn)行頭部CT或核磁共振（MRI）檢查即可確診,。腦血栓發(fā)生后,，輕者經(jīng)過(guò)治療后短期內(nèi)可以完全恢復(fù)，但多數(shù)病人易長(zhǎng)期遺留難以恢復(fù)的肢體功能障礙,，生活不能自理,，給家庭及社會(huì)帶來(lái)沉重的負(fù)擔(dān)。因此,，預(yù)防腦血栓的發(fā)生或捕捉發(fā)生腦血栓前的警告信號(hào),，盡早采取防病措施，是極為重要的,。
神經(jīng)病學(xué)專(zhuān)家經(jīng)過(guò)對(duì)大量腦血栓病例的調(diào)查,，發(fā)現(xiàn)有半數(shù)以上的腦血栓患者，在發(fā)病前似有蚊子飛過(guò),，醫(yī)學(xué)上叫“飛蚊現(xiàn)象”,；也有的突然出現(xiàn)一過(guò)性黑蒙，俗稱(chēng)兩眼發(fā)黑,；也有少數(shù)人出現(xiàn)短暫的意識(shí)喪失,，四肢突然失控，持續(xù)數(shù)分鐘或數(shù)小時(shí),，一般不超過(guò)24小時(shí),，即可完全恢復(fù)正常。還有些病人在無(wú)明顯誘因的情況下出現(xiàn)血壓過(guò)低或過(guò)高,、頭痛,、注意力不集中或精神癥狀等，也就是說(shuō),，以上這些癥狀的出現(xiàn),，均是腦血栓形成前的先兆，如在此時(shí)采取預(yù)防措施,，就可避免腦血栓的發(fā)生,。
對(duì)腦血栓的預(yù)防很重要,，50歲以上的人可定期測(cè)量血壓，也可做腦血流圖檢查了解腦供血情況,，發(fā)現(xiàn)異?？煞弥委熌X動(dòng)脈硬化的藥物，可也應(yīng)用腸溶阿斯匹林口服,，以降低血液的粘稠度,，防止血栓形成。臨床觀察還發(fā)現(xiàn),，一般腦血栓病人多數(shù)是在睡覺(jué)時(shí)或凌晨這段時(shí)間發(fā)病,，其原因是早晨這段時(shí)間內(nèi)機(jī)體應(yīng)激性差，激素分泌處于低潮,。最近國(guó)外有報(bào)道,，于夜間12點(diǎn)后飲一杯涼開(kāi)水并長(zhǎng)期堅(jiān)持下去，可預(yù)防腦血栓的發(fā)生,。
生物谷推薦原始出處：
NEUROLOGY 2008;70:129-132
Factor XII C46T gene polymorphism and the risk of cerebral venous thrombosis
K. H. Reuner, MD, E. Jenetzky, MD, A. Aleu, MD, F. Litfin, P. Mellado, MD, M. Kloss, MD, E. Jüttler, MD, A. J. Grau, MD, H. Rickmann, MD, H. Patscheke, MD and C. Lichy, MD
From the Institute for Medical Laboratory Diagnostics, Städtisches Klinikum Karlsruhe, Germany (K.H.R., F.L., H.P.); Institute of Medical Biometry and Informatics, University of Heidelberg, Germany (E. Jenetzky); Department of Neurology, Hospital de Sant Pau, Barcelona, Spain (A.A.); Department of Neurology, Pontificia Universidad Catolica de Chile, Santiago, Chile (P.M.); Department of Neurology, Städtisches Klinikum Ludwigshafen, Germany (A.J.G.); Department of Neurology, Städtisches Klinikum Karlsruhe, Germany (H.R.); and Department of Neurology, University of Heidelberg, Germany (M.K., E. Jüttler, C.L.).
Address correspondence and reprint requests to Dr. Christoph Lichy, Department of Neurology, University of Heidelberg, INF 400, 69120 Heidelberg, Germany [email protected]
Background: The TT genotype of a functional factor XII (FXII) C46T gene polymorphism was shown to be a risk factor for peripheral venous thrombosis. We tested whether this genetic variant also increases the risk for cerebral venous thrombosis (CVT).
Methods: We performed a case-control study including 78 consecutive patients with proven CVT and 201 healthy population controls from South Germany. The FXII C46T genotype was assessed using a PCR technique.
Results: The TT genotype of the FXII C46T polymorphism was more common in patients (16.7%) than in controls (5.5%). A strong association of the TT genotype with CVT was found, which was independent of covariables (adjusted odds ratio 4.57; 95% CI 1.55 to 13.41; p = 0.006).
Conclusion: The TT genotype of the functional factor XII C46T gene polymorphism may be a new independent risk factor for cerebral venous thrombosis (CVT). Our finding warrants confirmation in an independent study before this genetic variant should be added to the panel of established risk factors for CVT.
Abbreviations: ATIII = antithrombin III; CVT = cerebral venous thrombosis; FVL = factor V Leiden; FXII = factor XII; OR = odds ratio; PVT = peripheral venous thrombosis.
