Christina A Eichstaedt, Simon O Haas, Memoona Shaukat, Ekkehard Grünig
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引用次数: 0
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.
期刊介绍：
Current Opinion in Pulmonary Medicine is a highly regarded journal offering insightful editorials and on-the-mark invited reviews, covering key subjects such as asthma; cystic fibrosis; infectious diseases; diseases of the pleura; and sleep and respiratory neurobiology. Published bimonthly, each issue of Current Opinion in Pulmonary Medicine introduces world renowned guest editors and internationally recognized academics within the pulmonary field, delivering a widespread selection of expert assessments on the latest developments from the most recent literature.
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