Pulmonary agenesis

Pulmonary agenesis is a rare congenital malformation characterized by the complete absence of one or both lungs, including the bronchus, pulmonary vasculature, and lung parenchyma. It is also referred to as lung agenesis. This condition results from a failure of the lung bud to develop during early embryonic life, typically around the fourth to fifth week of gestation. Pulmonary agenesis may be unilateral (affecting one lung) or bilateral (affecting both lungs). Bilateral pulmonary agenesis is incompatible with life. Unilateral pulmonary agenesis, while more survivable, can still present with significant morbidity depending on associated anomalies and the degree of compensatory growth of the remaining lung. Unilateral pulmonary agenesis primarily affects the respiratory system but may also be associated with congenital anomalies involving the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems. Key clinical features include respiratory distress, recurrent respiratory infections, reduced exercise tolerance, and mediastinal shift toward the affected side. Some patients may remain relatively asymptomatic if the contralateral lung undergoes adequate compensatory hyperplasia. The condition is more commonly reported on the left side, and right-sided agenesis tends to carry a worse prognosis due to greater mediastinal shift and potential compression of the airways and great vessels. Diagnosis is typically made through imaging studies including chest X-ray, CT scan, and bronchoscopy, which confirm the absence of the lung and its bronchus. Prenatal diagnosis via ultrasound or fetal MRI is also possible. There is no curative treatment for pulmonary agenesis. Management is supportive and focuses on preventing and treating respiratory infections, managing associated anomalies, and monitoring respiratory function. In some cases, surgical intervention may be needed to address airway compression or cardiovascular complications. Long-term follow-up with a multidisciplinary team including pulmonologists, cardiologists, and surgeons is recommended.

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