{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T08:33:45Z","timestamp":1740126825779,"version":"3.37.3"},"reference-count":24,"publisher":"Georg Thieme Verlag KG","issue":"11","funder":[{"DOI":"10.13039\/100006400","name":"Alnylam Pharmaceuticals","doi-asserted-by":"crossref","award":["Support in medical writing"],"award-info":[{"award-number":["Support in medical writing"]}],"id":[{"id":"10.13039\/100006400","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Z Gastroenterol"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Zusammenfassung<\/jats:title><jats:p>Die heredit\u00e4re Transthyretin-Amyloidose (hATTR-Amyloidose) ist eine seltene, schnell fortschreitende und potenziell lebensbedrohliche Krankheit, die durch eine von mehr als 120 Mutationen im Transthyretin (TTR)-Gen verursacht wird. Die Mehrzahl der Patienten entwickelt infolge der daraus resultierenden, kumulierenden Amyloidablagerungen insbesondere in den peripheren Nerven und dem Herzen im Laufe der Jahre eine progrediente, periphere sensomotorische Polyneuropathie und eine biventrikul\u00e4re Kardiomyopathie.<\/jats:p><jats:p>Da TTR \u2013 und damit auch seine amyloidogenen Varianten \u2013 \u00fcberwiegend in der Leber synthetisiert wird, ist die fr\u00fche, orthotope Lebertransplantation (LTx) eine Therapieoption, mit der die Progression der hATTR-Amyloidose potenziell gestoppt werden kann.<\/jats:p><jats:p>Der vorliegende Fall beschreibt einen Patienten mit hepatozellul\u00e4rem Karzinom, der im Rahmen einer Dominotransplantation das Organ einer Patientin mit hATTR erhalten hatte. Nach etwa 10 Jahren begann der Patient, die charakteristischen Symptome der Stoffwechselkrankheit zu entwickeln, was eine Re-Lebertransplantation erforderlich machte. Aufgrund einer weiteren Progression der Amyloidose wurde anschlie\u00dfend eine Therapie mit dem RNA-Interferenz-Therapeutikum Patisiran eingeleitet, die vorl\u00e4ufig zu einem Stopp der Progression f\u00fchrte.<\/jats:p>","DOI":"10.1055\/a-1735-3795","type":"journal-article","created":{"date-parts":[[2022,5,9]],"date-time":"2022-05-09T22:38:17Z","timestamp":1652135897000},"page":"1659-1664","source":"Crossref","is-referenced-by-count":0,"title":["de novo hATTR Amyloidose nach Domino-Lebertransplantation: Ein Fallbeispiel f\u00fcr den Einsatz von Patisiran"],"prefix":"10.1055","volume":"60","author":[{"given":"Martina","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Universit\u00e4tsklinikum M\u00fcnster, M\u00fcnster, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Yilmaz","sequence":"additional","affiliation":[{"name":"Herz-MRT-Zentrum, Klinik f\u00fcr Kardiologie I, Sektion f\u00fcr Herzbildgebung, Universit\u00e4tsklinikum 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