Familial pneumothorax: towards precision medicine

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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Veröffentlicht in:Thorax 2018-03, Vol.73 (3), p.270-276
Hauptverfasser: Scott, Rachel M, Henske, Elizabeth P, Raby, Benjamin, Boone, Philip M, Rusk, Rosemary A, Marciniak, Stefan J
Format: Artikel
Sprache:eng
Schlagworte:
Cell growth
Cysts
Female
Humans
Kinases
Male
Medical screening
Mutation
Pneumothorax - diagnosis
Pneumothorax - genetics
Precision medicine
Precision Medicine - methods
Proteins
Surveillance
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Zusammenfassung: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.
ISSN:0040-6376
1468-3296
DOI:10.1136/thoraxjnl-2017-211169