Familial pneumothorax: towards precision medicine.
Accepted version
Peer-reviewed
Repository URI
Repository DOI
Change log
Authors
Abstract
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.
Description
Keywords
pleural disease, Female, Humans, Male, Mutation, Pneumothorax, Precision Medicine
Journal Title
Thorax
Conference Name
Journal ISSN
0040-6376
1468-3296
1468-3296
Volume Title
73
Publisher
BMJ
Publisher DOI
Sponsorship
Medical Research Council (G1002610)
Medical Research Council (G0601840)
Medical Research Council (MR/R009120/1)
Medical Research Council (G0601840)
Medical Research Council (MR/R009120/1)