Post-infectious bronchiolitis obliterans (PIBO) is a rare but severe chronic lung disease of childhood, characterized by irreversible small-airway obstruction following severe lower respiratory tract infections early in life. The disease course is often progressive and associated with long-term respiratory morbidity, while effective disease-modifying therapies remain limited. We report the case of a young child who developed severe PIBO following adenovirus pneumonia complicated by prolonged respiratory failure and multisystem involvement. Diagnosis was based on persistent respiratory symptoms, characteristic radiologic findings, and poor response to conventional anti-inflammatory treatment. Given the severity of the clinical course and steroid-refractory disease, an individualized immunomodulatory strategy, including hydroxychloroquine, was initiated within a multidisciplinary framework. During follow-up, the patient showed progressive clinical improvement, with gradual weaning from continuous oxygen supplementation, fewer respiratory exacerbations, simplification of systemic therapies, and radiologic findings consistent with partial improvement. Although causal conclusions regarding treatment efficacy cannot be drawn from a single case, the overall disease trajectory appeared more favorable than typically reported in PIBO cohorts. This case supports the emerging view of PIBO as an immune-mediated airway fibrotic disorder and underscores the importance of integrating detailed clinical phenotyping with evolving molecular insights to inform future precision medicine in pediatric post-infectious airway disease.

Background: Interstitial lung diseases (ILDs) are a heterogeneous group of disorders characterized by variable degrees of inflammation and fibrosis affecting the pulmonary interstitium. Advances in molecular biology and genetics have greatly expanded our understanding of ILD pathogenesis, uncovering novel mechanisms and supporting precision medicine approaches. Genetic Insights: Genetic factors play a pivotal role in ILD heterogeneity, influencing disease onset, severity, and progression. To date, more than 30 genes with different inheritance patterns (autosomal dominant, recessive, or X-linked) have been associated with ILDs. These genes are primarily involved in surfactant metabolism, telomere maintenance, immune regulation, and epithelial repair. Emerging evidence also implicates genes encoding aminoacyl-tRNA synthetases. This review summarizes the main genetic alterations underlying ILD pathogenesis and discusses their impact on diagnostic and therapeutic approaches, highlighting how identification of disease-causing variants can improve diagnostic accuracy, refine prognostic assessment, and inform recurrence risk. Methods: A narrative review was conducted through targeted PubMed and Embase searches using disease- and gene-related keywords. Studies were prioritized based on predefined conceptual criteria, including clinical relevance, strength and replication of genetic associations, and availability of functional or translational evidence. Conclusions: This synthesis brings together the latest genetic insights into pediatric ILDs and their clinical implications. Integrating genomic data into clinical practice may enable earlier diagnosis, tailored follow-up, individualized therapeutic strategies, and more informed genetic counseling. However, important challenges remain, including incomplete genotype–phenotype correlations and limited functional validation for several disease-associated genes, which currently constrain full clinical translation.

Background: Down syndrome (DS) is commonly associated with complex respiratory phenotypes due to anatomical, immunological, and vascular factors. Pulmonary sequestration (PS) is a rare congenital malformation of non-functioning lung tissue with anomalous systemic arterial supply, occasionally reported in syndromic individuals. Case presentation: We report the case of a female infant with DS who developed acute respiratory distress secondary to respiratory syncytial virus infection. Chest imaging revealed an intralobar pulmonary pseudosequestration in the right lower lobe, supplied by the celiac trunk and draining into the pulmonary veins, with a communication to the bronchial tree. The patient required pediatric intensive care support and nutritional rehabilitation. Surgical resection was deferred until adequate weight optimization could be achieved. Discussion: This is, to our knowledge, the first description of intralobar pulmonary pseudosequestration in a patient with DS. The association suggests possible overlapping developmental mechanisms involving abnormal angiogenesis and emphasizes the importance of considering congenital pulmonary malformations in DS patients presenting with recurrent or severe respiratory symptoms. Conclusions: Early recognition and tailored management may improve clinical outcomes in this vulnerable population.

Background: An increase in hemoglobin (Hb) has been reported in subjects with CF treated with the CFTR modulator Ivacaftor and with the combination Lumacaftor/Ivacaftor (LI), while the literature about the impact of Elexacaftor/Tezacaftor/Ivacaftor (ETI) on Hb levels in the pediatric population is lacking. Materials and Methods: We retrospectively evaluated Hb levels in 35 subjects with CF (18 males, median age: 8 years; interquartile range (IQR): 6–13 years) treated with LI and 60 (24 males, median age: 10 years; IQR: 6–14 years) treated with ETI. For each subject we considered the values of Hb, serum potassium, total bilirubin (TB), and conjugated bilirubin (CB) at baseline, after 3 days, and 1, 3, 6, 9, and 12 months from the start of treatment. Results: In subjects with CF treated with LI, we observed a significant increase in Hb values 3 days after the introduction of the drug, which remained constant throughout the year of treatment. In subjects treated with ETI, a significant decrease in Hb was observed 3 days after the first dose up to 1 month. At 6 months, Hb returned to pre-treatment values remaining stable for up to 12 months. At 3 days of treatment, we also observed a significant increase in serum potassium, which returned to normal at one month, while both TB and CB values significantly increased at 3 days of treatment and remained significantly higher for the whole one-year period of ETI therapy. Conclusions: We confirmed an increase in Hb values over time in subjects treated with LI. While the Hb response in those treated with ETI showed a transient reduction that lasted for one month, this may have depended on hemolysis, and returned to pre-treatment levels. Further studies will clarify the mechanisms that govern changes in Hb in subjects with CF treated with ETI.

Background: Interstitial lung diseases (ILDs) are a heterogeneous group of disorders characterized by variable degrees of inflammation and fibrosis affecting the pulmonary interstitium. Advances in molecular biology and genetics have greatly expanded our understanding of ILD pathogenesis, revealing novel mechanisms and supporting the development of precision medicine approaches. Genetic insights: Genetic factors play a pivotal role in ILD heterogeneity, influencing disease onset, severity, and progression. To date, more than 30 genes with different inheritance patterns (autosomal dominant, recessive, or X-linked) have been associated to ILDs. These genes are primarily involved in surfactant metabolism, telomere mainte-nance, immune regulation, and epithelial repair. Recent evidence also implicates genes encoding aminoacyl-tRNA synthetases. This review summarises the main genetic al-terations underlying ILD pathogenesis and discusses their impact on diagnostic and therapeutic approaches, highlighting how identification of disease-causing variants can improve diagnostic accuracy, refine prognostic assessment, and inform recurrence risk. Methods: A narrative review was conducted through targeted PubMed and Embase searches using disease- and gene-related keywords. Eligible publications included narrative and systematic reviews, meta-analyses, case series, prospective studies, society guidelines, and peer-reviewed editorials. Conclusions: This synthesis brings together the latest genetic insights into pediatric ILDs and their clinical implications. Integrating genomic data into clinical practice may enable earlier diagnosis, tailored follow-up, individualized therapeutic strategies, and more informed genetic counseling. Collectively, these advances hold promise for better out-comes in children affected by ILDs.

BackgroundChronic rhinosinusitis (CRS) is a common extrapulmonary manifestation of cystic fibrosis (CF) and significantly affects pediatric patients’ quality of life. Data on the impact of elexacaftor/tezacaftor/ivacaftor (ETI) on sinonasal disease in children remain limited. This study aims to evaluate the effects of ETI on CRS severity and explore the influence of atopy and TAS2R38 polymorphisms.MethodsWe performed a single-center retrospective cohort study including CF subjects aged 6–18 years treated with ETI. Clinical, endoscopic, radiological, functional, and laboratory data were collected at baseline and after 12 months of therapy. CRS severity was assessed using Lund–Kennedy endoscopic score, Lund–Mackay CT score and Visual Analogue Scale (VAS). Secondary outcomes included quality of life (CFQ-R), lung function (FEV1), airway microbiology, atopy, and TAS2R38 genotype. Appropriate parametric and non-parametric tests were used (p < 0.05).ResultsFifty-four patients (mean age 11.5 ± 3.6 years) were included. After 12 months of ETI therapy, significant improvements were observed in FEV1, CFQ-R, VAS, and endoscopic and radiological CRS scores (all p < 0.05). No patient required sinonasal surgery during follow-up. Staphylococcus aureus colonization was significantly reduced. Atopic patients showed lower radiological improvement than non-atopic subjects. TAS2R38 genotype influenced baseline sinonasal severity, with a trend toward genotype-dependent differences in response to ETI.ConclusionsETI therapy significantly improves CRS severity in pediatric CF patients. Atopy and genetic modifiers may contribute to variability in sinonasal response, supporting a personalized approach to CF-related CRS management.