Primary interstitial lung disease in childhood and adulthood

Primary interstitial lung disease (ILD) in childhood and adulthood, also referred to as diffuse parenchymal lung disease, encompasses a heterogeneous group of rare disorders that primarily affect the lung interstitium — the tissue and space surrounding the air sacs (alveoli) of the lungs. These conditions are characterized by inflammation and/or fibrosis of the lung parenchyma, leading to impaired gas exchange and progressive respiratory compromise. The Orphanet classification (ORPHA:264762) serves as a broad grouping category that includes numerous specific entities affecting both pediatric and adult populations, such as surfactant metabolism disorders, hypersensitivity pneumonitis, idiopathic interstitial pneumonias, and other forms of childhood interstitial lung disease (chILD). Key symptoms across these conditions include chronic cough, progressive dyspnea (shortness of breath), tachypnea (rapid breathing), exercise intolerance, hypoxemia (low blood oxygen levels), and in children, failure to thrive and recurrent respiratory infections. Physical examination may reveal crackles on lung auscultation and digital clubbing. Chest imaging typically shows diffuse infiltrates, ground-glass opacities, or reticular patterns on high-resolution computed tomography (HRCT). Lung biopsy may be required for definitive diagnosis in some cases. The treatment landscape varies considerably depending on the specific underlying etiology. General management strategies include supplemental oxygen therapy, anti-inflammatory agents such as corticosteroids, immunosuppressive medications (e.g., hydroxychloroquine, azathioprine), and antifibrotic agents (pirfenidone, nintedanib) for progressive fibrosing forms. Lung transplantation may be considered in severe, refractory cases. In pediatric patients, surfactant protein deficiencies may require specific targeted approaches. Prognosis is highly variable, ranging from spontaneous resolution in some childhood forms to progressive, life-threatening disease in others. Multidisciplinary care involving pulmonologists, radiologists, pathologists, and geneticists is essential for optimal management.

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