{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T04:46:53Z","timestamp":1683694013002},"reference-count":29,"publisher":"Georg Thieme Verlag KG","issue":"05","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pneumologie"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Zusammenfassung<\/jats:title><jats:p>Falldarstellung eines 40-j\u00e4hrigen Patienten mit rezidivierend spontan auftretenden Pneumothoraces in der Vorgeschichte. Neben einer konservativen Versorgung eines Pneumothorax auf der linken Seite erfolgte eine subtotale parietale Pleurektomie rechts nach einem Pneumothorax 6 Jahre sp\u00e4ter. In der durchgef\u00fchrten CT-Thoraxuntersuchung zeigt sich ein hochgradiger struktureller Umbau des Lungenparenchyms im Sinne von multiplen pulmonalen Zysten beidseits mit einer Gr\u00f6\u00dfe von bis zu 7,5 cm. Nach Ausschluss eines alpha-1-Antitrypsinmangels, einer immunologischen Grunderkrankung, unauff\u00e4lliger Familien- und Berufsanamnese wird aufgrund des CT-morphologischen Verteilungsmusters der zystischen Ver\u00e4nderungen der Verdacht auf ein Birt-Hogg-Dub\u00e9-Syndrom gestellt. In der durchgef\u00fchrten genetischen Untersuchung erfolgt ein Nachweis der krankheitsausl\u00f6senden, pathogenen Variante c.1294_1298del;p.(Ser432Argfs*22) im FLCN-Gen in heterozygotem Zustand. Das Birt-Hogg-Dub\u00e9-Syndrom ist eine seltene genetische Erkrankung, die klinisch durch pulmonale Zysten, Fibrofollikulome der Haut und das geh\u00e4ufte Auftreten von Nierentumoren charakterisiert ist. Insbesondere das erh\u00f6hte Risiko f\u00fcr maligne Tumoren der Niere sowie das Risiko f\u00fcr Spontanpneumothoraces unterstreicht die Wichtigkeit einer fr\u00fchen Diagnose und Durchf\u00fchrung von Vorsorgeuntersuchungen bei betroffenen Patienten und deren Angeh\u00f6rigen.<\/jats:p>","DOI":"10.1055\/a-2028-6032","type":"journal-article","created":{"date-parts":[[2023,5,9]],"date-time":"2023-05-09T23:41:11Z","timestamp":1683675671000},"page":"303-307","source":"Crossref","is-referenced-by-count":0,"title":["\u201eNicht schon wieder ein Pneumothorax\u201c \u2013 Fallbericht Birt-Hogg-Dub\u00e9-Syndrom"],"prefix":"10.1055","volume":"77","author":[{"given":"Laura Katharina","family":"Elsner","sequence":"additional","affiliation":[{"name":"Medizinische Klinik und Poliklinik V, Klinikum der Universit\u00e4t M\u00fcnchen, LMU, M\u00fcnchen, 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