Elisabeth Bendstrup

Familial idiopathic pulmonary fibrosis in a young female

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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.

Original languageEnglish
JournalRespiratory medicine case reports
Volume24
Pages (from-to)1-4
Number of pages4
ISSN2213-0071
DOIs
Publication statusPublished - 2018

    Research areas

  • Familial fibrotic interstitial lung disease, Genetics, Inheritance, Surfactant protein mutations, Idiopathic pulmonary fibrosis

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