Kwiatkowski Janet L, Hunter Jill V, Smith-Whitley Kim, Katz Mira L, Shults Justine, Ohene-Frempong Kwaku
Division of Hematology, The Children's Hospital of Philadelphia, Wood Building, 4th Floor, 34th Street & Civic Center Boulevard, Philadelphia, PA 19104, USA.
Br J Haematol. 2003 Jun;121(6):932-7. doi: 10.1046/j.1365-2141.2003.04276.x.
The risk of stroke in sickle cell disease (SCD) may be influenced by either genetic or environmental factors. Elevated blood flow velocity in the large cerebral arteries, detected by transcranial Doppler (TCD) ultrasonography, predicts an increased stroke risk in children with SCD. We undertook this study to investigate the possibility of a familial predisposition to elevated cerebral blood flow velocity, a surrogate marker for stroke risk. We analysed the results of TCD studies performed on 63 children from 29 families that had more than one child with SCD. We assessed the association of elevated cerebral blood flow velocity with sibling TCD results as well as age and haemoglobin level, which are factors known to affect cerebral blood flow velocity. Positive or negative TCD results were highly correlated between family members (r = 0.61). The presence of a sibling with a positive TCD result was significantly associated with an elevated cerebral blood flow velocity in other siblings with SCD (odds ratio = 50.7, 95% confidence interval 10.1-253.7, P < 0.001). Furthermore, children who had a sibling with a positive TCD result had a significantly higher TCD velocity than children with SCD but without a sibling who were matched for age, sex, genotype and haemoglobin level. Our results are consistent with a familial predisposition to cerebral vasculopathy in SCD.
镰状细胞病（SCD）患者的中风风险可能受遗传或环境因素影响。经颅多普勒（TCD）超声检测发现，大脑大动脉血流速度升高预示着SCD患儿中风风险增加。我们开展这项研究，旨在调查大脑血流速度升高（中风风险的替代标志物）是否存在家族易感性。我们分析了对来自29个家庭的63名儿童进行的TCD研究结果，这些家庭中不止一名儿童患有SCD。我们评估了大脑血流速度升高与兄弟姐妹的TCD结果以及年龄和血红蛋白水平之间的关联，已知这些因素会影响大脑血流速度。家庭成员之间TCD结果的阳性或阴性高度相关（r = 0.61）。TCD结果呈阳性的兄弟姐妹的存在与其他患有SCD的兄弟姐妹大脑血流速度升高显著相关（比值比 = 50.7，95%置信区间10.1 - 253.7，P < 0.001）。此外，有TCD结果呈阳性的兄弟姐妹的儿童，其TCD速度显著高于年龄、性别、基因型和血红蛋白水平相匹配但没有此类兄弟姐妹的SCD患儿。我们的结果与SCD患者大脑血管病变的家族易感性一致。
