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Background <p>Congenital pulmonary airway malformation (CPAM) is a rare pulmonary developmental anomaly with heterogeneous clinical manifestations and associated comorbidities. While often diagnosed prenatally, its lifelong clinical spectrum and associated comorbidities remain poorly characterized, as existing evidence is fragmented across individual case reports and small series. To integrate and analyze individual patient data from published cases to delineate the age-stratified spectrum of comorbidities and clinical presentations of CPAM from fetal life to adulthood.</p> Results <p>We performed a pooled analysis of individual case data extracted from 209 published articles during the period from 1992 to 2025. A total of 832 CPAM cases were stratified by age: fetus (<i>n</i> = 168), infant (<i>n</i> = 272), toddler (<i>n</i> = 70), child (<i>n</i> = 114), adolescent (<i>n</i> = 53), and adult (<i>n</i> = 155). In the 832 CPAM cases, a majority (66.6%; 95% CI 63.3%–69.8%) were asymptomatic at presentation, yet 37.4% (95% CI 34.1%–40.8%) had at least one documented comorbidity. Age-stratified analysis revealed significantly evolving profiles: malignant/pre-malignant lesions increased sharply with age (adults 23.9%; 95% CI 17.5%–31.3% vs. prenatal 2.9%; 95% CI 1.0%–6.9%, <i>p</i> &lt; 0.001), while pulmonary sequestration was more frequent in fetal cases (9.5%). Asymptomatic presentation decreased from 89.4% prenatally to 48.4% in adulthood (<i>p</i> &lt; 0.001), whereas infection-related symptoms, hemoptysis, and cough increased with age. Multivariate analysis identified symptomatic presentation at diagnosis as a strong, independent predictor of clinical outcome (aOR = 10.73, <i>p</i> = 0.004). Among the subset of 119 cases with genetic testing data, 63.0% (95% CI 53.7%–71.7%) harbored genetic findings of potential clinical significance.</p> Conclusion <p>This large-scale pooled analysis demonstrates that CPAM exhibits a dynamic comorbidity and presentation spectrum across the lifespan, with increasing malignancy risk and symptomatic burden in adulthood. These findings challenge the perception of CPAM as solely a pediatric condition and argue for structured, lifelong follow-up. Specifically, we recommend: (1) age-stratified malignancy surveillance, with low-dose CT screening considered for adults with residual lesions; (2) transition from pediatric to adult care protocols that include patient education on symptom monitoring (e.g., new cough, hemoptysis); and (3) prioritized intervention and genetic counseling for symptomatic patients and those with identified genetic variants, given their higher risk of complications. Implementing these targeted strategies is crucial to optimize long-term outcomes.</p>

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A lifespan pooled analysis of 832 cases: characterizing the lifespan profile of clinical presentations and comorbidities in congenital pulmonary airway malformation

  • 期刊论文

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  • 发表日期：

    2026年7月1日

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  • Xiao Cheng,
  • Chao Meng,
  • Lirong Nie,
  • Zhiwen Li,
  • Jufen Liu

摘要

Background

Congenital pulmonary airway malformation (CPAM) is a rare pulmonary developmental anomaly with heterogeneous clinical manifestations and associated comorbidities. While often diagnosed prenatally, its lifelong clinical spectrum and associated comorbidities remain poorly characterized, as existing evidence is fragmented across individual case reports and small series. To integrate and analyze individual patient data from published cases to delineate the age-stratified spectrum of comorbidities and clinical presentations of CPAM from fetal life to adulthood.

Results

We performed a pooled analysis of individual case data extracted from 209 published articles during the period from 1992 to 2025. A total of 832 CPAM cases were stratified by age: fetus (n = 168), infant (n = 272), toddler (n = 70), child (n = 114), adolescent (n = 53), and adult (n = 155). In the 832 CPAM cases, a majority (66.6%; 95% CI 63.3%–69.8%) were asymptomatic at presentation, yet 37.4% (95% CI 34.1%–40.8%) had at least one documented comorbidity. Age-stratified analysis revealed significantly evolving profiles: malignant/pre-malignant lesions increased sharply with age (adults 23.9%; 95% CI 17.5%–31.3% vs. prenatal 2.9%; 95% CI 1.0%–6.9%, p < 0.001), while pulmonary sequestration was more frequent in fetal cases (9.5%). Asymptomatic presentation decreased from 89.4% prenatally to 48.4% in adulthood (p < 0.001), whereas infection-related symptoms, hemoptysis, and cough increased with age. Multivariate analysis identified symptomatic presentation at diagnosis as a strong, independent predictor of clinical outcome (aOR = 10.73, p = 0.004). Among the subset of 119 cases with genetic testing data, 63.0% (95% CI 53.7%–71.7%) harbored genetic findings of potential clinical significance.

Conclusion

This large-scale pooled analysis demonstrates that CPAM exhibits a dynamic comorbidity and presentation spectrum across the lifespan, with increasing malignancy risk and symptomatic burden in adulthood. These findings challenge the perception of CPAM as solely a pediatric condition and argue for structured, lifelong follow-up. Specifically, we recommend: (1) age-stratified malignancy surveillance, with low-dose CT screening considered for adults with residual lesions; (2) transition from pediatric to adult care protocols that include patient education on symptom monitoring (e.g., new cough, hemoptysis); and (3) prioritized intervention and genetic counseling for symptomatic patients and those with identified genetic variants, given their higher risk of complications. Implementing these targeted strategies is crucial to optimize long-term outcomes.