Interstitial lung disease specific to childhood

Interstitial lung disease specific to childhood (chILD) is a broad group of rare respiratory disorders that occur predominantly or exclusively in infants and children, affecting the lung interstitium — the tissue and space around the air sacs (alveoli) of the lungs. These conditions are characterized by abnormal changes in the lung parenchyma that impair gas exchange, leading to progressive respiratory difficulty. The group encompasses several distinct entities including neuroendocrine cell hyperplasia of infancy (NEHI), pulmonary interstitial glycogenosis, surfactant dysfunction disorders (such as those caused by mutations in SFTPB, SFTPC, ABCA3, or NKX2-1), developmental disorders of the lung, and growth abnormalities. Unlike adult interstitial lung diseases, these childhood-specific forms have unique pathological features and clinical courses. Key symptoms include persistent tachypnea (rapid breathing), hypoxemia (low blood oxygen levels), chronic cough, failure to thrive, exercise intolerance, and recurrent respiratory infections. In severe cases, particularly in neonatal-onset surfactant dysfunction disorders, respiratory failure may develop rapidly. Chest imaging typically reveals diffuse infiltrates, ground-glass opacities, or hyperinflation. Diagnosis often requires a combination of clinical evaluation, high-resolution computed tomography (HRCT), genetic testing, and in some cases lung biopsy. The treatment landscape varies depending on the specific underlying condition. General supportive measures include supplemental oxygen therapy, nutritional support, and prevention of respiratory infections. Systemic corticosteroids and hydroxychloroquine have been used with variable success in some subtypes. For severe surfactant dysfunction disorders, lung transplantation may be the only definitive treatment option. Prognosis ranges widely — some forms such as NEHI tend to improve gradually over time, while genetic surfactant disorders can be fatal in infancy. Multidisciplinary care involving pediatric pulmonologists, geneticists, and other specialists is essential for optimal management.

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