Clinical outcomes of pulmonary agenesis: A systematic review of the literature

Abstract

Introduction Pulmonary agenesis is a complete absence of the pulmonary parenchyma, airways, and vasculature unilaterally or bilaterally. Although bilateral cases are lethal, the outcome of unilateral cases remains not well described. We performed a comprehensive literature review to assess the clinical features of pulmonary agenesis. Methods Four database sources were searched on October 10, 2021 and two cases were included from our institution. Studies related to the clinical impact of comorbidity and intervention on the survival outcome in pulmonary agenesis were included for full‐text review. Results We identified 259 patients—with right‐sided (59%), left‐sided (34%), and bilateral agenesis (7%)—among 195 articles and our two cases. Additional anomalies included cardiovascular (40%), skeletal (30%), gastrointestinal (20%), tracheal (20%: all stenoses), and genitourinary (14%) anomalies. Fifty‐seven (24%) individuals in unilateral pulmonary agenesis had isolated disease. Outcomes related to survival were not uniformly reported, but the 2‐year overall survival rate of unilateral agenesis was 62% and no subsequent death was reported until 13 years of age. The right‐sided agenesis was more frequently associated with tracheal stenosis (27% vs. 11%, p = 0.003) than the left‐sided disease. A multivariable analysis indicated that tracheal stenosis (hazard ratio [HR]: 2.2, 95% confidence interval [CI]: 1.3–4.1, p = 0.003) and gastrointestinal anomalies (HR: 2.0, 95% CI: 1.1–3.3, p = 0.010) were prognostic factors for mortality. Conclusions The poor prognostic factors were tracheal stenosis, right agenesis, and gastrointestinal anomalies. Treatment for these comorbidities is a key point for improving the survival of unilateral pulmonary agenesis.

Unilateral Lung Agenesis: A Case Series and Review of Literature

“…Overall reported mortality in unilateral lung agenesis is around 30% with higher mortality in right compared with left lung agenesis. 10 We saw a similar trend in our patients with both of our right-sided lung agenesis patients succumbing to their condition. Survival in unilateral lung agenesis depends on associated anomalies.…”

“…higher mortality in right compared to left lung agenesis (10). We saw a similar trend in our patients with both of our right-sided lung agenesis patients succumbing to their condition.…”

“…Fukuoka et al in 2022 published a systematic review of 259 published cases of lung agenesis. 10 In their review, 137 cases were diagnosed in the neonatal period and 40 cases (29%) had a suspicion based on prenatal US and/or MRI. Symptomatic neonates have varying degrees of respiratory distress and severity depends on other associated anomalies.…”

“…Survival in unilateral lung agenesis depends on associated anomalies. Fukuoka et al reported higher mortality in patients with associated tracheal stenosis, and cardiac or GI anomalies (10).…”

“…The clinical presentation of unilateral lung agenesis can be variable with most patients being diagnosed postnatally. Fukuoka et al in 2022 published a systematic review of 259 published cases of lung agenesis (10). In their review, 137 cases were diagnosed in the neonatal period and 40 cases (29%) had a suspicion based on prenatal US and/or MRI.…”