Thimmesch Matthieu, Tuerlinckx David, Habay Marie, Lebecque Patrick
Pneumologie pédiatrique et Centre de Référence liégeois de la Mucoviscidose, CHC MontLégia, Liège, Belgique.
Pédiatrie, CHU Dinant-Godinne, UCL Namur, Belgique.
Rev Med Liege. 2023 Jul;78(7-8):436-440.
In infants as well as in older children, persistent or recurrent atelectasis remains a classic indication for sweat testing, even if neonatal screening for cystic fibrosis has been considered normal. Atelectasis is a common complication of cystic fibrosis. Yet, it has rarely been reported in infants. In cystic fibrosis, chronic atelectasis worsens the prognosis, especially when involving a lower lobe. Therefore, early and effective intervention is required. Antibiotic therapy, intensive chest physiotherapy together with inhaled mucolytics often allow to relieve bronchial obstruction but bronchoscopy with local aspiration and Dornase alpha instillation is sometimes necessary. In a two-month-old infant, we describe here the first reported case of false-negative cystic fibrosis newborn screening in Belgium.
对于婴儿以及大龄儿童，即使囊性纤维化的新生儿筛查结果被认为正常，持续性或复发性肺不张仍是进行汗液检测的典型指征。肺不张是囊性纤维化的常见并发症。然而，它在婴儿中很少被报道。在囊性纤维化中，慢性肺不张会使预后恶化，尤其是当累及下叶时。因此，需要早期且有效的干预。抗生素治疗、强化胸部物理治疗以及吸入黏液溶解剂通常可缓解支气管阻塞，但有时需要进行支气管镜检查并局部抽吸以及滴入 Dornase alpha。在此，我们描述了比利时首例报道的囊性纤维化新生儿筛查假阴性的两个月大婴儿病例。
