Porcaro Federica, Coretti Antonella, Pardi Valerio, Aloi Ivan Pietro, Conforti Andrea, Petreschi Francesca, Cutrera Renato
Pediatric Pulmonology & Cystic Fibrosis Unit, Respiratory Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
General and Thoracic Surgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Ital J Pediatr. 2025 Mar 11;51(1):71. doi: 10.1186/s13052-025-01918-8.
Children with congenital lung disease (CLD) may suffer from long-term complications, such as impairments in lung growth, decreased total lung volume, recurrent lower respiratory tract infections and, in some cases, malignant transformation.
we described retrospective data on diagnostic process, clinical and functional data regarding a cohort of symptomatic and asymptomatic children with CLD followed in a single third level center in the last twenty years.
91 children were included in the study. Five classes of disease were examined. Bronchial tree and pulmonary abnormalities represent the most common anomalies. Despite the improved resolution of prenatal diagnosis, most of patients underwent chest CT scan to confirm the initial diagnostic suspicion. The most reported symptoms were wheezing, recurrent respiratory infections and acute respiratory failure. According to malformation type, patients underwent to surgery, endoscopic and/or medical treatment. Improvement of symptoms occurred faster in patients surgically and endoscopically treated. No statistical difference in the number of exacerbations before and after treatment was recorded, as well as no differences in spirometry values were observed among surgically and non-surgically treated children. No malignant transformation was observed in two patients with intra-lobar sequestration and hybrid lesion during the follow up period.
the clinical presentation of congenital airway and lung disorders varies significantly depending on the type of malformation, making it challenging to standardize treatment strategies and follow-up programs. Based on our experience, prompt surgical or endoscopic intervention in early symptomatic children leads to faster symptom improvement and normal lung function in the follow-up period. However, further prospective studies are needed to better define optimal treatment strategies for these rare conditions, particularly for asymptomatic patients, for whom management approaches remain poorly established.
先天性肺病（CLD）患儿可能会遭受长期并发症，如肺生长受损、肺总量减少、反复下呼吸道感染，在某些情况下还会发生恶性转化。
我们描述了过去二十年在一家三级中心随访的一组有症状和无症状CLD患儿的诊断过程、临床和功能数据的回顾性资料。
91名儿童纳入研究。检查了五类疾病。支气管树和肺部异常是最常见的异常情况。尽管产前诊断分辨率有所提高，但大多数患者仍接受胸部CT扫描以确认最初的诊断怀疑。最常报告的症状是喘息、反复呼吸道感染和急性呼吸衰竭。根据畸形类型，患者接受手术、内镜和/或药物治疗。接受手术和内镜治疗的患者症状改善更快。治疗前后发作次数无统计学差异，手术治疗和非手术治疗儿童的肺功能测定值也无差异。在随访期间，两名叶内型隔离症和混合型病变患者未观察到恶性转化。
先天性气道和肺部疾病的临床表现因畸形类型而异，这使得标准化治疗策略和随访计划具有挑战性。根据我们的经验，对早期有症状的儿童进行及时的手术或内镜干预可使症状在随访期更快改善且肺功能恢复正常。然而，需要进一步的前瞻性研究来更好地确定这些罕见疾病的最佳治疗策略，特别是对于无症状患者，其管理方法仍不完善。
