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Combined pulmonary fibrosis and emphysema syndrome associated with familial SFTPC mutation
  1. Vincent Cottin1,2,
  2. Philippe Reix3,
  3. Chahéra Khouatra1,
  4. Françoise Thivolet-Béjui4,
  5. Delphine Feldmann5,
  6. Jean-François Cordier1,2
  1. 1Hospices Civils de Lyon, Hôpital Louis Pradel, Service de pneumologie – Centre de référence des maladies pulmonaires rares, Lyon, France
  2. 2Université de Lyon, Université Lyon I, INRA, UMR754, IFR 128, Lyon, France
  3. 3Hospices Civils de Lyon, Groupement hospitalier est, Service de pédiatrie, Lyon, France
  4. 4Hospices Civils de Lyon, Groupement hospitalier est, Centre de biologie et pathologie est, Lyon, France
  5. 5Assistance publique Hôpitaux de Paris, Hôpital Armand Trousseau, Laboratoire de biochimie, Paris, France
  1. Correspondence to Vincent Cottin, Hôpital Louis Pradel, Service de pneumologie, Lyon (Bron) Cedex 69677, France; vincent.cottin{at}chu-lyon.fr

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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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