Interstitial lung disease specific to infancy

Interstitial lung disease specific to infancy (also referred to as childhood interstitial lung disease of infancy or chILD specific to infancy) encompasses a group of rare diffuse lung disorders that present exclusively or predominantly during the first years of life. These conditions primarily affect the lung parenchyma — the delicate tissue and air sacs (alveoli) responsible for gas exchange — leading to impaired oxygenation. The group includes several distinct entities such as neuroendocrine cell hyperplasia of infancy (NEHI), pulmonary interstitial glycogenosis (PIG), surfactant dysfunction disorders (caused by mutations in genes such as SFTPB, SFTPC, ABCA3, and NKX2-1), and developmental abnormalities including alveolar capillary dysplasia and acinar dysplasia. Key symptoms include tachypnea (rapid breathing), respiratory distress, hypoxemia (low blood oxygen levels), failure to thrive, persistent cough, and retractions (visible pulling in of the chest wall during breathing). Crackles may be heard on lung auscultation. Symptoms typically manifest in the neonatal or early infantile period, though the severity and progression vary considerably depending on the specific underlying diagnosis. Some forms, such as NEHI, tend to have a more favorable prognosis with gradual improvement over time, while surfactant dysfunction disorders can be severe and life-threatening. Treatment is largely supportive and may include supplemental oxygen therapy, nutritional support, and mechanical ventilation in severe cases. Systemic corticosteroids and hydroxychloroquine have been used in some subtypes, though evidence for their efficacy remains limited. Lung transplantation may be considered in the most severe, progressive forms that are refractory to medical management. Genetic testing and lung biopsy are important diagnostic tools. Management is best coordinated through multidisciplinary teams at specialized pediatric pulmonology centers.

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