Causes of death and early life determinants of survival in homozygous sickle cell disease: The Jamaican cohort study from birth.
Causes of death and early life determinants of survival in homozygous sickle cell disease: The Jamaican cohort study from birth.
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DOI：
10.1371/journal.pone.0192710
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发表时间：
2018
期刊：
影响因子：
3.7
通讯作者：
Knight-Madden JM
中科院分区：
文献类型：
--
作者：
Serjeant GR;Chin N;Asnani MR;Serjeant BE;Mason KP;Hambleton IR;Knight-Madden JM
在全球范围内，大多数镰状细胞病患者无法获得羟基脲或更昂贵的干预措施。目的是估计纯合子镰状细胞病的生存率，无偏的症状选择，并确定死亡的原因，在一个前羟基脲人口。评估了早期生命生物标志物和遗传决定的表型预测生存的效用。镰状细胞病科是牙买加的一个专门诊所，向镰状细胞病患者提供护理，在新生儿诊断的基础上进行了一项队列研究。对100，000名分娩的筛查发现了315名患有纯合子镰状细胞病的婴儿，其中311人从出生起就被跟踪长达43年。肺炎球菌预防和教导母亲脾脏触诊是重要的，廉价的干预措施。提供预见性指导、常规护理和门诊急症护理。每个参与者被分为活着，死亡，或默认（通常是移民）。根据临床记录和/或尸检报告确定死亡原因。使用Kaplan-Meier函数评估生存率。使用性别调整的考克斯半参数比例风险和Weibull模型评估生物标志物对生存期的影响。40年生存率为55.5%（95% CI 48.7%-61.7%）。急性胸部综合征（n = 31）和败血症（n = 14）是所有年龄段的重要死亡原因。急性脾隔离症（n = 12）是早期死亡的最常见原因。在1年时血红蛋白较低、1年时总有核细胞计数较高和曾有指（趾）炎病史的患者中，生存期明显较短。在这些未接受过羟基脲治疗的患者中，存活至中年是常见的。死亡原因往往与年龄有关，有些是可以预防的。早期生命生物标志物预测SS疾病的生存率降低，确定可能受益于密切的临床监督和潜在的高风险治疗的患者群体。
Globally, the majority of persons born with sickle cell disease do not have access to hydroxyurea or more expensive interventions. The objectives were to estimate the survival in homozygous sickle cell disease, unbiased by symptomatic selection and to ascertain the causes of death in a pre-hydroxyurea population. The utility of early life biomarkers and genetically determined phenotypes to predict survival was assessed. A cohort study based on neonatal diagnosis was undertaken at the Sickle Cell Unit, a specialist clinic delivering care to persons with sickle cell disease in Jamaica. Screening of 100,000 deliveries detected 315 babies with homozygous sickle cell disease of whom 311 have been followed from birth for periods up to 43 years. Pneumococcal prophylaxis and teaching mothers splenic palpation were important, inexpensive interventions. Anticipatory guidance, routine care and out-patient acute care were provided. Each participant was classified as alive, dead, or defaulted (usually emigration). Causes of death were ascertained from clinical records and/or post-mortem reports. Survival was assessed using the Kaplan-Meier function. Sex-adjusted Cox semi-parametric proportional hazards and Weibull modelling were used to assess the effects on survival of biomarkers. Survival to 40 years was 55.5% (95% CI 48.7% to 61.7%). Acute Chest Syndrome (n = 31) and septicemia (n = 14) were significant causes of death at all ages. Acute splenic sequestration (n = 12) was the most common cause of early deaths. Survival was significantly shorter in those with lower hemoglobin at 1 year, high total nucleated count at 1 year, and a history of dactylitis ever. In these hydroxyurea naïve patients, survival into midlife was common. Causes of death were often age specific and some may be preventable. Early life biomarkers predictive of decreased survival in SS disease identify a patient group likely to benefit from close clinical supervision and potentially high risk therapies.
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影响因子：
158.5
作者：
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通讯作者：
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