Miller S T, Sleeper L A, Pegelow C H, Enos L E, Wang W C, Weiner S J, Wethers D L, Smith J, Kinney T R
State University of New York-Downstate Medical Center, Brooklyn 11203, USA.
N Engl J Med. 2000 Jan 13;342(2):83-9. doi: 10.1056/NEJM200001133420203.
The ability to identify infants with sickle cell anemia who are likely to have severe complications later in life would permit accurate prognostication and tailoring of therapy to match disease-related risks and facilitate planning of clinical trials. We attempted to define the features of such babies by following the clinical course of 392 children with sickle cell disease from infancy to about the age of 10 years.
We analyzed the records of 392 infants who received the diagnosis of homozygous sickle cell anemia or sickle cell-Beta(0)-thalassemia before the age of six months and for whom comprehensive clinical and laboratory data were recorded prospectively; data were available for a mean (+/-SD) of 10.0+/-4.8 years. Results obtained before the age of two years were evaluated to determine whether they predicted the outcome later in life.
Of the 392 infants in the cohort, 70 (18 percent) subsequently had an adverse outcome, defined as death (18 patients [26 percent]), stroke (25 [36 percent]) frequent pain (17 [24 percent]), or recurrent acute chest syndrome (10 [14 percent]). Using multivariate analysis, we found three statistically significant predictors of an adverse outcome: an episode of dactylitis before the age of one year (relative risk of an adverse outcome, 2.55; 95 percent confidence interval, 1.39 to 4.67), a hemoglobin level of less than 7 g per deciliter (relative risk, 2.47; 95 percent confidence interval, 1.14 to 5.33), and leukocytosis in the absence of infection (relative risk, 1.80; 95 percent confidence interval, 1.05 to 3.09).
Three easily identifiable manifestations of sickle cell disease that may appear in the first two years of life (dactylitis, severe anemia, and leukocytosis) can help to predict the possibility of severe sickle cell disease later in life.
识别那些日后可能出现严重并发症的镰状细胞贫血婴儿的能力，将有助于进行准确的预后评估，并根据疾病相关风险调整治疗方案，同时便于开展临床试验规划。我们通过追踪392例镰状细胞病患儿从婴儿期到10岁左右的临床病程，试图明确这类婴儿的特征。
我们分析了392例在6个月龄前被诊断为纯合子镰状细胞贫血或镰状细胞-β0-地中海贫血的婴儿的记录，这些婴儿均有前瞻性记录的全面临床和实验室数据；平均（±标准差）随访时间为10.0±4.8年。对2岁前获得的结果进行评估，以确定其是否能预测日后的病情转归。
在该队列的392例婴儿中，70例（18%）随后出现了不良结局，不良结局定义为死亡（18例[26%]）、中风（25例[36%]）、频繁疼痛（17例[24%]）或反复急性胸综合征（10例[14%]）。通过多因素分析，我们发现了三个具有统计学意义的不良结局预测因素：1岁前发生的指（趾）炎（不良结局的相对风险为2.55；95%置信区间为1.39至4.67）、血红蛋白水平低于7g/dL（相对风险为2.47；95%置信区间为1.14至5.33）以及无感染情况下的白细胞增多（相对风险为1.80；95%置信区间为1.05至3.09）。
镰状细胞病在生命最初两年可能出现的三种易于识别的表现（指（趾）炎、严重贫血和白细胞增多）有助于预测日后发生严重镰状细胞病的可能性。
