[Heritable pulmonary arterial hypertension]. / Hereditäre pulmonal-arterielle Hypertonie.
Inn Med (Heidelb)
; 65(6): 560-565, 2024 Jun.
Article
em De
| MEDLINE
| ID: mdl-38771375
ABSTRACT
Heritable pulmonary arterial hypertension (PAH) can be triggered by at least 18 genes. The most frequently altered gene is the bone morphogenetic protein receptor 2 (BMPR2). Further genes from the same pathway are also well known PAH-causing genes. Genetic testing can aid to confirm differential diagnoses such as a pulmonary veno-occlusive disease. It also enables the testing of healthy family members. In addition to the PAH patient population particularly served by genetic testing, this article touches on the mode of inheritance and provides insights into the first treatments soon on the market that rebalance the BMPR2 signaling pathway.
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1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Receptores de Proteínas Morfogenéticas Ósseas Tipo II
Limite:
Humans
Idioma:
De
Revista:
Inn Med (Heidelb)
Ano de publicação:
2024
Tipo de documento:
Article