Institute of Mother and Child, Cystic Fibrosis Department, Warsaw, Poland; Children's Hospital in Dziekanów Leśny, Cystic Fibrosis Center, Warsaw, Poland.
Institute of Mother and Child, Cystic Fibrosis Department, Warsaw, Poland; Children's Hospital in Dziekanów Leśny, Cystic Fibrosis Center, Warsaw, Poland.
J Pediatr (Rio J). 2022 Jul-Aug;98(4):419-424. doi: 10.1016/j.jped.2021.11.007. Epub 2021 Dec 22.
To present signs and symptoms and clinical course in cystic fibrosis patients with false-negative newborn screening (CF NBS).
All children presented in this paper were covered by CF NBS. The group of 1.869.246 newborns was screened in the Institute of Mother and Child in Warsaw within a period of 01.01.1999 - 31.05.2019. Screening protocols evolved over time from IRT/IRT to IRT/DNA/EGA.
The authors identified 11 patients with false-negative NBS, in whom CF was diagnosed based on clinical symptoms or the examination of siblings with positive CF NBS. In the study group, the diagnosis was made significantly later in comparison to positive CF NBS patients ranging from 2 months to 15 years of age. CF NBS strategy does not significantly affect the sensitivity of the screening.
In the presence of clinical symptoms, additional diagnostics must be implemented, in spite of the negative screening results. At first, the sweat test should be conducted, followed by a DNA analysis of the most common mutations in the given population. The diagnostic process requires searching for CFTR mutations not typically associated with a high chloride concentration in sweat. Repetition of sweat chloride concentration enables the diagnosis in children whose initial chloride values in sweat are borderline, and no CF-causing mutations are detected. In strong clinical indications, the extension of DNA analysis (EGA) is recommended in order to identify rare CF variants. In children with meconium ileus, genetic analysis is mandatory.
介绍囊性纤维化（CF）新生儿筛查（NBS）假阴性患者的症状和临床表现及病程。
本文所有患儿均行 CF NBS。1999 年 1 月 1 日至 2019 年 5 月 31 日，我们对在华沙母婴研究所出生的 1.869.246 例新生儿进行了 NBS 筛查。随着时间的推移，筛查方案从 IRT/IRT 演变为 IRT/DNA/EGA。
作者共发现 11 例 CF NBS 假阴性患儿，他们均因临床表现或阳性 CF NBS 同胞的检查而确诊 CF。在研究组中，确诊时间明显晚于阳性 CF NBS 患儿，为 2 个月至 15 岁。CF NBS 策略并未显著影响筛查的敏感性。
即使筛查结果为阴性，若存在临床症状，仍需进行其他诊断性检查。首先应进行汗液检查，随后对当地人群中最常见的 CFTR 突变进行 DNA 分析。诊断过程中需寻找与汗液中氯离子浓度升高无关的 CFTR 突变。对于初始汗液氯离子浓度处于临界值且未发现 CF 致病突变的患儿，重复进行汗液氯离子浓度检查有助于诊断。在强烈的临床指征下，推荐进行 DNA 分析（EGA）以鉴定罕见的 CF 变异。对于存在胎粪性肠梗阻的患儿，需进行基因分析。
