<unk>  <unk>  is a rare, congenital diffuse lung disease characterized by abnormal blood vessels in the lungs that cause highly elevated pulmonary blood pressure and an inability to effectively oxygenate and remove carbon dioxide from the blood.<unk>  typically presents in newborn babies within hours of birth as rapid and labored breathing, blue-colored lips or skin, quickly leading to respiratory failure and death. Atypical forms of<unk>  have been reported with initially milder symptoms and survival of many months before the onset of respiratory failure or lung transplantation. Most cases of<unk>  are caused by mutations affecting the gene FOXF1 or its nearby enhancer region. Exactly how these mutations lead to abnormal lung development is unknown. Abnormal lung development is characterized by thickened alveolar interstitium, misplacement of pulmonary<unk> es away from the alveolar surface, and fewer<unk> es overall. This results in poor gas exchange and pulmonary hypertension. There is evidence for connections between pulmonary arteries and systemic vessels, which would additionally contribute to poor blood oxygenation.<unk>  is typically diagnosed by examination of lung tissue under a microscope, either from lung biopsy or an autopsy. The characteristic findings of misplaced pulmonary veins adjacent to pulmonary arteries, and abnormal alveolar and<unk>  development confirm the diagnosis. FOXF1 genetic testing is also available, which can confirm the diagnosis without invasive testing. There are no effective treatments for severe<unk> . Standard therapy, which includes mechanical ventilation, pulmonary vasodilators, and possibly ECMO, provide only temporary improvement in symptoms with disease progression returning within hours. For babies with atypical<unk> , response to medical therapy is more sustained, lasting for several months. For those that can be stabilized, definitive treatment is bilateral lung transplantation.<unk>  is a rare disease. About 100 cases have been reported. The first case was reported in 1981.
Alveolar capillary dysplasia
Persistent fetal circulation
Pulmonary alveolar proteinosis
Sepsis
Congenital pulmonary airway malformation
Pneumonia
Pulmonary alveolar microlithiasis
Infant respiratory distress syndrome