Sommet Julie, Alberti Corinne, Couque Nathalie, Verlhac Suzanne, Haouari Zinedine, Mohamed Damir, François Martine, Missud Florence, Holvoet Laurent, Elmaleh Monique, Ithier Ghislaine, Denjean André, Elion Jacques, Baruchel André, Benkerrou Malika
U 1123, ECEVE, Hôpital Robert-Debré, INSERM, Paris, France.
UMR-S 1123, ECEVE, Sorbonne Paris Cité, Univ Paris Diderot, Paris, France.
Br J Haematol. 2016 Mar;172(6):966-77. doi: 10.1111/bjh.13916. Epub 2016 Jan 5.
Children with sickle cell disease (SCD) have a significant vascular morbidity, especially cerebral macrovasculopathy (CV), detectable by transcranial Doppler. This study aimed to identify risk factors for CV using longitudinal biological and clinical data in a SCD newborn cohort followed at the Robert Debre Reference centre (n = 375 SS/Sβ(0) ). Median follow-up was 6·8 years (2677 patient-years). Among the 59 children presenting with CV, seven had a stroke. Overall, the incidence of CV was 2·20/100 patient-years [95% confidence interval (95% CI): 1·64-2·76] and the incidence of stroke was 0·26/100 patient-years (95% CI: 0·07-0·46). The cumulative risk of CV by age 14 years was 26·0% (95% CI: 20·0-33·3%). Risk factors for CV were assessed by a Cox model encompassing linear multivariate modelling of longitudinal quantitative variables. Years per upper-airway obstruction [Hazard ratio (HR) = 1·47; 95% CI: 1·05-2·06] or bronchial obstruction (HR = 1·76; 95% CI: 1·49-2·08) and reticulocyte count (HR = 1·82 per 50 × 10(9) /l increase; 95% CI: 1·10-3·01) were independent risk factors whereas fetal haemoglobin level (HR = 0·68 per 5% increase; 95% CI: 0·48-0·96) was protective. Alpha-thalassaemia was not protective in multivariate analysis (ancillary analysis n = 209). Specific treatment for upper or lower-airway obstruction and indirect targeting of fetal haemoglobin and reticulocyte count by hydroxycarbamide could potentially reduce the risk of CV.
患有镰状细胞病(SCD)的儿童存在显著的血管病变,尤其是脑大血管病变(CV),经颅多普勒检查可检测到。本研究旨在利用在罗伯特·德布雷参考中心随访的SCD新生儿队列中的纵向生物学和临床数据,确定CV的危险因素(n = 375,SS/Sβ(0))。中位随访时间为6.8年(2677患者年)。在59例出现CV的儿童中,7例发生了中风。总体而言,CV的发病率为2.20/100患者年[95%置信区间(95%CI):1.64 - 2.76],中风的发病率为0.26/100患者年(95%CI:0.07 - 0.46)。14岁时CV的累积风险为26.0%(95%CI:20.0 - 33.3%)。通过包含纵向定量变量线性多变量建模的Cox模型评估CV的危险因素。每出现一年上呼吸道梗阻[风险比(HR)= 1.47;95%CI:1.05 - 2.06]或支气管梗阻(HR = 1.76;95%CI:1.49 - 2.08)以及网织红细胞计数(每增加50×10(9)/L,HR = 1.82;95%CI:1.10 - 3.01)均为独立危险因素,而胎儿血红蛋白水平(每增加5%,HR = 0.68;95%CI:0.48 - 0.96)具有保护作用。在多变量分析中,α地中海贫血无保护作用(辅助分析n = 209)。对上呼吸道或下呼吸道梗阻进行特异性治疗,以及通过羟基脲间接靶向胎儿血红蛋白和网织红细胞计数,可能会降低CV的风险。