{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T12:54:41Z","timestamp":1754398481780},"reference-count":19,"publisher":"Georg Thieme Verlag KG","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dtsch Med Wochenschr"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Was ist neu?<\/jats:title><jats:p>\n          Autosomal-dominante polyzystische Nieren-Erkrankungen Zystische Nierenerkrankungen sind klinisch und genetisch zunehmend heterogen, auch f\u00fcr die h\u00e4ufigste Form ADPKD wurden k\u00fcrzlich neue Gene identifiziert. Das Verst\u00e4ndnis zu Genotyp-Ph\u00e4notyp Korrelationen hat sich dabei in den letzten Jahren deutlich verbessert und es macht einen Unterschied f\u00fcr Patient und Familie welcher genaue Genotyp vorliegt. In jedem 4. Fall geht die klassische ADPKD ohne positive Familienanamnese einher (meist aufgrund von Neumutationen). Bei diesen sporadisch imponierenden F\u00e4llen und bei Mutationen in autosomal rezessiven Genen kann die restliche Familie in der Regel entlastet werden.<\/jats:p><jats:p>\n          Differenzialdiagnose mit ADPKD-\u00e4hnlichen Ph\u00e4notypen Differenzialdiagnosen mit Mutationen in anderen Genen k\u00f6nnen zudem klinisch wie ADPKD oder ADPKD-\u00e4hnlich imponieren. Dies gilt auch f\u00fcr Tumorsyndrome wie die von Hippel-Lindau Erkrankung, tuber\u00f6se Sklerose oder das Birt-Hogg-Dub\u00e9 Syndrom sowie die rezessiven Zystennieren (ARPKD) und andere Ziliopathien, die ebenfalls wie isolierte Zystennieren erscheinen k\u00f6nnen. Eine Differenzierung ist aufgrund der unterschiedlichen klinischen Verl\u00e4ufe und anderer Therapieoptionen sehr wichtig.<\/jats:p><jats:p>\n          Welchen Unterschied f\u00fcr die Klinik macht eine genetisch gesicherte Diagnose?\u2002Die genaue genetische Einordnung hat gro\u00dfe Bedeutung f\u00fcr Patient und Familie. Eine gezielte genetische Beratung mit Angabe von Risiken ist nur mit Kenntnis des Genotyps m\u00f6glich. Assoziierte Komorbidit\u00e4ten und organ\u00fcbergreifende Komplikationen k\u00f6nnen zudem fr\u00fchzeitig detektiert und gezieltes Screening und Monitoring erm\u00f6glicht werden. Dank deutlich verbesserter technischer M\u00f6glichkeiten kommt der genetischen Diagnostik im Rahmen der Risikostratifizierung und medikament\u00f6s-therapeutischer Optionen ein zunehmend hoher Stellenwert zu. Ein ma\u00dfgeschneiderter NGS-basierter Ansatz mittels Multi-Gen Panel ist kosteneffizient und in Anbetracht der Vielzahl und Komplexit\u00e4t in Betracht zu ziehender Gene die Methode der Wahl. Hiermit l\u00e4sst sich die \u00c4tiologie meist kl\u00e4ren.<\/jats:p>","DOI":"10.1055\/a-1337-1828","type":"journal-article","created":{"date-parts":[[2022,5,30]],"date-time":"2022-05-30T22:32:13Z","timestamp":1653949933000},"page":"710-717","source":"Crossref","is-referenced-by-count":2,"title":["Zystennieren: Genetische Testung und richtige Einordnung klinisch-therapeutisch zunehmend bedeutsam"],"prefix":"10.1055","volume":"147","author":[{"given":"Carsten","family":"Bergmann","sequence":"additional","affiliation":[{"name":"Medizinische Genetik Mainz"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2022,5,30]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1038\/s41572-018-0047-y","article-title":"Polycystic kidney disease","volume":"4","author":"C Bergmann","year":"2018","journal-title":"Nat Rev Dis 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