{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T22:27:03Z","timestamp":1785882423290,"version":"3.56.0"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2024,5,21]],"date-time":"2024-05-21T00:00:00Z","timestamp":1716249600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,5,21]],"date-time":"2024-05-21T00:00:00Z","timestamp":1716249600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Innere Medizin"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Zusammenfassung<\/jats:title><jats:p>Die heredit\u00e4re pulmonal-arterielle Hypertonie (PAH) kann durch Mutation in mindestens 18\u00a0Genen ausgel\u00f6st werden. Das am h\u00e4ufigsten ver\u00e4nderte Gen ist das f\u00fcr den \u201ebone morphogenetic protein receptor\u00a02\u201c (<jats:italic>BMPR2<\/jats:italic>). Auch weitere Gene im selben Signalweg sind als PAH-Gene bekannt. Eine positive genetische Testung ist hilfreich, um Differenzialdiagnosen wie eine pulmonale venookklusive Erkrankung zu sichern, und erm\u00f6glicht die Testung gesunder Familienangeh\u00f6riger. Neben dem Patient*innenkollektiv, dem eine genetische Testung besonders dient, geht dieser Beitrag auf die Art der Vererbung der heredit\u00e4ren PAH ein und gibt einen Einblick in erste Therapien, die den BMPR2-Signalweg wieder ins Gleichgewicht bringen.<\/jats:p>","DOI":"10.1007\/s00108-024-01718-y","type":"journal-article","created":{"date-parts":[[2024,5,21]],"date-time":"2024-05-21T06:01:36Z","timestamp":1716271296000},"page":"560-565","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Heredit\u00e4re pulmonal-arterielle Hypertonie","Heritable pulmonary arterial hypertension"],"prefix":"10.1007","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7288-8297","authenticated-orcid":false,"given":"Christina A.","family":"Eichstaedt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1222-0911","authenticated-orcid":false,"given":"Memoona","family":"Shaukat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7318-3918","authenticated-orcid":false,"given":"Ekkehard","family":"Gr\u00fcnig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,5,21]]},"reference":[{"key":"1718_CR1","doi-asserted-by":"publisher","first-page":"1055","DOI":"10.1164\/ajrccm.161.3.9906051","volume":"161","author":"Z Deng","year":"2000","unstructured":"Deng\u00a0Z, Haghighi\u00a0F, Helleby\u00a0L et\u00a0al (2000) Fine mapping of PPH1, a\u00a0gene for familial primary pulmonary hypertension, to a\u00a03-cM region on chromosome 2q33. 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C.A.\u00a0Eichstaedt hat von MSD Vortragshonorare erhalten, unabh\u00e4ngig von dieser Arbeit. E.\u00a0Gr\u00fcnig hat Honorare f\u00fcr Vortr\u00e4ge\/Konsultationen von Bayer\/MSD, Ferrer, GEBRO, GSK, Janssen und OMT erhalten. Forschungsf\u00f6rderung f\u00fcr klinische Studien wurde von Acceleron, Actelion, Bayer HealthCare, MSD, Bellerophon, Gossamer\u00a0Bio, Janssen, Novartis, OMT, Pfizer, REATE und United Therapeutics erhalten, unabh\u00e4ngig von dieser Arbeit. M.\u00a0Shaukat gibt an, dass kein Interessenkonflikt besteht.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}},{"value":"F\u00fcr diesen Beitrag wurden von den Autor\/-innen keine Studien an Menschen oder Tieren durchgef\u00fchrt. F\u00fcr die aufgef\u00fchrten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}}]}}