Combining clinical, radiological and genetic approaches to pneumothorax management.
other · Level V
Where this comes from
- Record sourced from PubMed, PMID 34145047.
- Also identified by DOI 10.1136/thoraxjnl-2021-217210 and PMC identifier 8762013.
- Licence recorded as CC BY-NC.
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Abstract
Familial spontaneous pneumothorax (FSP) accounts for 10% of primary spontaneous pneumothoraces. Appropriate investigation of FSP enables early diagnosis of serious monogenic diseases and the practice of precision medicine. Here, we show that a pneumothorax genetics multidisciplinary team (MDT) can efficiently diagnose a range of syndromic causes of FSP. A sizeable group (73.6%) of clinically unclassifiable FSPs remains. Using whole genome sequencing we demonstrate that most of these cases are not known monogenic disorders. Therefore, clinico-radiological assessment by an MDT has high sensitivity for currently known clinically important monogenic causes of FSP, which has relevance for the design of efficient pneumothorax services.
Medical subject headings
- Pneumothorax