Familial idiopathic pulmonary fibrosis in a young female

摘要

Idiopathic pulmonary fibrosis is a chronic interstitial lung disease of unknown cause. In the past years there have been observations of clustering of pulmonary fibrosis in families, indicating the disease can be inherited. The most commonly identified mutations are mutations involving proteins from the telomerase complex and the surfactant system, where the mutations from the surfactant protein system are less identified. We report a rare care of familial IPF in a young female at the age of 34 years, in whom genetic testing shows two different heterozygous variants for the surfactant protein system as a probable cause of her interstitial lung disease. Keywords: Familial fibrotic interstitial lung disease, Genetics, Inheritance, Surfactant protein mutations, Idiopathic pulmonary fibrosis