An approach to diagnosing and managing diffuse lung disease presenting in the newborn period

Although rare, diffuse lung disease is increasingly recognised as a cause of respiratory distress in newborns. However, many cases remain undiagnosed as not all clinicians are aware that these diseases may present during the newborn period. An increased index of suspicion is required in newborns not responding to conventional management, those with rapid deterioration of respiratory function and those with a family history of lung disorders. A structured diagnostic approach including radiography, genetic testing and lung histology should be followed, whereby a multidisciplinary team (neonatologist, pulmonologist, geneticist, radiologist and histopathologist) is involved. The mainstay of management is mostly supportive, and may include ventilation, infection prevention and control and nutritional support. Pharmacological therapy is based on anecdotal evidence. Although lung transplantation may be considered in some facilities, long-term post-transplant survival is poor.