| Literature DB >> 29288214 |
Rachel M Scott1, Elizabeth P Henske2, Benjamin Raby3, Philip M Boone4, Rosemary A Rusk5, Stefan J Marciniak1,6.
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. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.Entities:
Keywords: pleural disease
Mesh:
Year: 2017 PMID: 29288214 DOI: 10.1136/thoraxjnl-2017-211169
Source DB: PubMed Journal: Thorax ISSN: 0040-6376 Impact factor: 9.139