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

• Verfasst von: Eichstaedt, Christina [VerfasserIn]
• Verfasst von: Haas, Simon O. [VerfasserIn]
• Verfasst von: Shaukat, Memoona [VerfasserIn]
• Verfasst von: Grünig, Ekkehard [VerfasserIn]
• Titel: Genetic background of pulmonary (vascular) diseases - how much is written in the codes?
• Verf.angabe: Christina A. Eichstaedt, Simon O. Haas, Memoona Shaukat, Ekkehard Grünig
• E-Jahr: 2024
• Jahr: September 2024
• Umfang: 7 S.
• Fussnoten: Gesehen am 03.02.2025
• Titel Quelle: Enthalten in: Current opinion in pulmonary medicine
• Ort Quelle: Philadelphia, Pa. : Lippincott Williams & Wilkins, 1995
• Jahr Quelle: 2024
• Band/Heft Quelle: 30(2024), 5, Seite 429-436
• ISSN Quelle: 1531-6971
• DOI: doi:10.1097/MCP.0000000000001090
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 1916144918

Abstract

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.