Familial pneumothorax: towards precision medicine

One in 10 patients suffering from primary spontaneous pneumothoraces has a family history of the disorder. Such familial pneumothoraces can occur in isolation, but can also be the presentation of serious genetic disorders with life-threatening vascular or cancerous complications. As the pneumothorax...

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Bibliographic Details
Published inThorax Vol. 73; no. 3; pp. 270 - 276
Main Authors Scott, Rachel M, Henske, Elizabeth P, Raby, Benjamin, Boone, Philip M, Rusk, Rosemary A, Marciniak, Stefan J
Format Journal Article
LanguageEnglish
Published England BMJ Publishing Group LTD 01.03.2018
Subjects
Cell growth
Cysts
Female
Humans
Kinases
Male
Medical screening
Mutation
Pneumothorax - diagnosis
Pneumothorax - genetics
Precision medicine
Precision Medicine - methods
Proteins
Surveillance
pleural disease
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ISSN0040-6376
1468-3296
1468-3296
DOI10.1136/thoraxjnl-2017-211169

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Summary:One in 10 patients suffering from primary spontaneous pneumothoraces has a family history of the disorder. Such familial pneumothoraces can occur in isolation, but can also be the presentation of serious genetic disorders with life-threatening vascular or cancerous complications. As the pneumothorax frequently precedes the more dangerous complications by many years, it provides an opportunity to intervene in a focused manner, permitting the practice of precision medicine. In this review, we will discuss the clinical manifestations and underlying biology of the genetic causes of familial pneumothorax.
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ISSN:0040-6376
1468-3296
1468-3296
DOI:10.1136/thoraxjnl-2017-211169