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The syndrome of combined pulmonary fibrosis and emphysema (CPFE) in adults has not been previously associated with mutations of the surfactant protein-C (SFTPC) gene.
A 32-year-old woman, never smoker, presented with dyspnoea and dry cough, 3 days after a caesarean delivery. Physical examination revealed finger clubbing and bilateral basal crackles. There was no manifestation indicative of connective tissue disease. High-resolution computed tomography (HRCT) of the chest showed conspicuous centrilobular emphysema in the upper zones of the lungs, and diffuse, infiltrative lung disease in the lower zones (figure 1). Emphysema was apparent even in areas devoid of infiltrative changes. The bronchoalveolar lavage differential cell count was 57% neutrophils, 40% macrophages and 3% lymphocytes. Pulmonary function test …
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