Neonatal Intensive Care Unit, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico Milano, Via Commenda 12, 20122 Milan, Italy.
Stroke. 2011 Jul;42(7):1889-93. doi: 10.1161/STROKEAHA.110.590455. Epub 2011 May 19.
The etiology of germinal matrix hemorrhage-intraventricular hemorrhage (GMH-IVH) is multifactorial and the role of genetic polymorphisms is unclear. The aim of this prospective study was to evaluate prothrombotic genetic mutations as independent risk factors for the development of all grades of GMH-IVH in very-low-birth-weight infants.
The presence of both factor V Leiden and prothrombin gain-of-function gene mutations were prospectively assessed in 106 very-low-birth-weight infants. Infants with GMH-IVH were compared to those without GMH-IVH according to genetic and clinical characteristics.
Twenty-two out of 106 infants had GMH-IVH develop (20.7%). Infants with GMH-IVH had significantly lower gestational ages and birth weights. In the multivariate Poisson regression model, the prevalence of GMH-IVH appeared to be inversely related to gestational age, with a risk ratio of 0.83 (95% CI, 0.72-0.97; P=0.02) per week. Risk ratio of GMH-IVH for carriers of either prothrombotic mutation was 2.65 (95% CI, 1.23-5.72; P=0.01), similar to the risk ratio associated with need for resuscitation at birth (2.30; 95% CI, 1.02-5.18; P=0.04).
Very-low-birth-weight infants who are carriers for either prothrombotic mutations are at increased risk for development of GMH-IVH. Genetic factors act as independent risk factors of the same magnitude as other known risk factors.
脑室内出血(GMH-IVH)的病因是多因素的,遗传多态性的作用尚不清楚。本前瞻性研究的目的是评估促血栓形成基因突变是否为极低出生体重儿发生所有程度 GMH-IVH 的独立危险因素。
前瞻性评估了 106 例极低出生体重儿是否存在因子 V Leiden 和凝血酶原功能获得性基因突变。根据遗传和临床特征,将 GMH-IVH 患儿与无 GMH-IVH 患儿进行比较。
106 例婴儿中有 22 例发生 GMH-IVH(20.7%)。GMH-IVH 患儿的胎龄和出生体重明显较低。在多元 Poisson 回归模型中,GMH-IVH 的患病率似乎与胎龄呈反比,每增加一周风险比为 0.83(95%CI,0.72-0.97;P=0.02)。携带任何一种促血栓形成突变的婴儿发生 GMH-IVH 的风险比为 2.65(95%CI,1.23-5.72;P=0.01),与出生时需要复苏的风险比相似(2.30;95%CI,1.02-5.18;P=0.04)。
携带任何一种促血栓形成突变的极低出生体重儿发生 GMH-IVH 的风险增加。遗传因素是与其他已知危险因素同等重要的独立危险因素。