Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder

Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder (Orphanet code 264930) is a group of rare pulmonary conditions characterized by abnormal development or maintenance of the alveolar structures in the lungs. The alveoli are the tiny air sacs where gas exchange occurs, and disruption of their architecture leads to impaired oxygen transfer into the bloodstream. This category encompasses several specific disorders that affect the lung parenchyma, resulting in diffuse interstitial lung disease that can manifest from early childhood through adulthood. Clinical features typically include progressive dyspnea (shortness of breath), tachypnea (rapid breathing), chronic cough, exercise intolerance, and in some cases cyanosis and failure to thrive in children. Chest imaging often reveals diffuse ground-glass opacities, reticular patterns, or other interstitial changes on high-resolution computed tomography (HRCT). Lung biopsy may show characteristic abnormalities in alveolar wall structure, including alveolar simplification, thickened septa, or other architectural distortions. The disease can range from mild respiratory impairment to severe, life-threatening respiratory failure. Treatment is largely supportive and may include supplemental oxygen therapy, pulmonary rehabilitation, and nutritional support. In some cases, corticosteroids or other immunomodulatory agents may be trialed, though evidence for their efficacy in alveolar structure disorders is limited. Hydroxychloroquine has been used in certain pediatric interstitial lung diseases with variable results. For patients with end-stage lung disease, lung transplantation may be considered. The underlying genetic causes vary depending on the specific subtype, and genetic counseling is recommended for affected families. Prognosis is highly variable depending on the specific disorder, severity of alveolar involvement, and age of onset.

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