Combined pulmonary fibrosis and emphysema syndrome associated with familial SFTPC mutation.


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… (More)
DOI: 10.1136/thx.2010.151407


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