Primary interstitial lung disease specific to childhood

Primary interstitial lung disease specific to childhood (chILD) is a heterogeneous group of rare respiratory disorders that predominantly affect the lung interstitium — the tissue and space around the air sacs (alveoli) — in infants and children. Unlike interstitial lung diseases seen in adults, these childhood-specific forms involve distinct entities related to abnormal lung development, surfactant metabolism dysfunction, and other processes unique to the growing lung. This group encompasses conditions such as neuroendocrine cell hyperplasia of infancy (NEHI), pulmonary interstitial glycogenosis, diffuse developmental disorders of the lung, and surfactant protein deficiencies (including mutations in SFTPB, SFTPC, ABCA3, and NKX2-1). Key symptoms include persistent tachypnea (rapid breathing), hypoxemia (low blood oxygen levels), chronic cough, failure to thrive, exercise intolerance, and respiratory distress that may present from the neonatal period through later childhood. Chest imaging typically reveals diffuse infiltrates, ground-glass opacities, or other interstitial patterns, and lung biopsy may be required for definitive diagnosis in some subtypes. The severity ranges widely — from mild disease with gradual improvement to severe, life-threatening respiratory failure. Treatment is largely supportive and depends on the specific subtype. Supplemental oxygen therapy is commonly required, and nutritional support is important for children with failure to thrive. Systemic corticosteroids and hydroxychloroquine are used in some forms, though evidence for their efficacy remains limited. In the most severe cases, particularly those involving surfactant protein B deficiency, lung transplantation may be the only definitive treatment option. Management is best coordinated through multidisciplinary teams at specialized pediatric centers. Because this is a grouping category rather than a single disease entity, the inheritance pattern, prognosis, and treatment response vary considerably depending on the underlying diagnosis.

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