van Dommelen Paula, Grote Floor K, Oostdijk Wilma, de Muinck Keizer-Schrama Sabine M P F, Bouquet Jan, Hendriks Johannes J E, Kouwenberg Jan, Verkerk Paul H, van Buuren Stef, Wit Jan M
Department of Statistics, TNO Quality of Life, Leiden, The Netherlands.
Horm Res. 2009;72(4):218-24. doi: 10.1159/000236083. Epub 2009 Sep 29.
BACKGROUND/AIMS: Cystic fibrosis (CF) in infancy and childhood is often associated with failure to thrive (FTT). This would suggest that in countries without a newborn screening program for CF, FTT could be used as a clinical screening tool. The aim of this study is to assess the diagnostic performance of FTT for identifying children with CF.
Longitudinal length and weight measurements up to 2.5 years of age were used from CF patients (n = 123) and a reference group (n = 2,151) in The Netherlands. Growth measurements after diagnosis were excluded. We developed five potential screening rules based upon length, weight and body mass index (BMI) standardized by age and gender (SDS). Outcome measures were sensitivity, specificity and positive predictive value (PPV).
BMI SDS had the highest sensitivity at low false-positive rates. An efficient scenario is a BMI SDS below -2.5 SD in combination with a decrease in BMI SDS of at least 0.5 SD. This scenario had a sensitivity of 32%, a specificity of 98.3% and a PPV of 0.75%.
In the absence of a newborn screening program, young children with FTT for BMI are candidates to consider testing for CF.
背景/目的：婴儿期和儿童期的囊性纤维化（CF）常与生长发育不良（FTT）相关。这表明在没有CF新生儿筛查项目的国家，FTT可作为一种临床筛查工具。本研究的目的是评估FTT对识别CF患儿的诊断性能。
使用了荷兰CF患者（n = 123）和一个参照组（n = 2151）2.5岁之前的纵向身高和体重测量数据。排除诊断后的生长测量数据。我们根据按年龄和性别标准化的身高、体重和体重指数（BMI）（SDS）制定了五条潜在的筛查规则。结果指标为敏感性、特异性和阳性预测值（PPV）。
BMI SDS在低假阳性率时具有最高的敏感性。一个有效的方案是BMI SDS低于-2.5 SD并伴有BMI SDS至少下降0.5 SD。该方案的敏感性为32%，特异性为98.3%，PPV为0.75%。
在没有新生儿筛查项目的情况下，因BMI出现FTT的幼儿是考虑进行CF检测的候选对象。
