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Genetic background of pulmonary (vascular) diseases - how much is written in the codes?

Purpose of review: To provide a comprehensive overview of the underlying genetic defects of pulmonary (vascular) diseases and novel treatment avenues. Recent findings: Pulmonary arterial hypertension (PAH) is the prime example of a pulmonary vascular disease, which can be caused by genetic mutations...

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Bibliographic Details
Main Authors: Eichstaedt, Christina (Author) , Haas, Simon O. (Author) , Shaukat, Memoona (Author) , Grünig, Ekkehard (Author)
Format: Article (Journal)
Language:English
Published: September 2024
In: Current opinion in pulmonary medicine
Year: 2024, Volume: 30, Issue: 5, Pages: 429-436
ISSN:1531-6971
DOI:10.1097/MCP.0000000000001090
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1097/MCP.0000000000001090
Verlag, lizenzpflichtig, Volltext: https://journals.lww.com/co-pulmonarymedicine/abstract/2024/09000/genetic_background_of_pulmonary__vascular_.4.aspx
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Author Notes:Christina A. Eichstaedt, Simon O. Haas, Memoona Shaukat, Ekkehard Grünig
Description
Summary:Purpose of review: To provide a comprehensive overview of the underlying genetic defects of pulmonary (vascular) diseases and novel treatment avenues. Recent findings: Pulmonary arterial hypertension (PAH) is the prime example of a pulmonary vascular disease, which can be caused by genetic mutations in some patients. Germline mutations in the BMPR2 gene and further genes lead to vessel remodelling, increase of pulmonary vascular resistance and onset of heritable PAH. The PAH genes with the highest evidence and strategies for genetic testing and counselling have been assessed and evaluated in 2023 by international expert consortia. Moreover, first treatment options have just arisen targeting the molecular basis of PAH. Summary: Apart from PAH, this review touches on the underlying genetic causes of further lung diseases including alpha 1 antitrypsin deficiency, cystic fibrosis, familial pulmonary fibrosis and lymphangioleiomyomatosis. We point out the main disease genes, the underlying pathomechanisms and novel therapies trying not only to relieve symptoms but to treat the molecular causes of the diseases.
Item Description:Gesehen am 03.02.2025
Physical Description:Online Resource
ISSN:1531-6971
DOI:10.1097/MCP.0000000000001090

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