{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T23:04:02Z","timestamp":1780095842739,"version":"3.54.0"},"reference-count":13,"publisher":"Georg Thieme Verlag KG","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dtsch Med Wochenschr"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>Was ist neu?<\/jats:title>\n                  <jats:p>Genetische Populationsstudien, die auf der Tr\u00e4gerfrequenz von ATP7B-Mutationen basieren, sch\u00e4tzen die Pr\u00e4valenz des Morbus Wilson oft h\u00f6her ein als die auf klinischen Patientenregistern basierenden Annahmen. Basierend auf einer aktuellen Studie sind manche Mutationen mit einem milderen Krankheitsbild und geringerer Penetranz verbunden. Basierend auf der aktuellen Literatur gibt es somit Hinweise auf eine gewisse Genotyp-Ph\u00e4notyp-Assoziation.<\/jats:p>\n                  <jats:p>Die Einf\u00fchrung des \u201eRelative Exchangeable Copper\u201c (REC) als diagnostischer Parameter f\u00fcr einen Morbus Wilson stellt einen wesentlichen diagnostischen Fortschritt dar. Nach Studienlage hat die REC-Bestimmung eine hohe Sensitivit\u00e4t und Spezifit\u00e4t f\u00fcr die Diagnose des Morbus Wilson und eine bessere Genauigkeit als die herk\u00f6mmlichen Diagnoseparameter. Einen weiteren diagnostischen Fortschritt bringt die Metallothionein-Immunhistochemie der Leberbiopsie bei Morbus Wilson. Die Methode erm\u00f6glicht diagnostisch valide Ergebnisse \u00fcber alle Fibrosestadien hinweg.<\/jats:p>\n                  <jats:p>Beim akuten Morbus Wilson bedingten Leberversagen sollte generell die umgehende Listung zur Lebertransplantation angestrebt werden. Der zus\u00e4tzliche \u00fcberbr\u00fcckende Plasmaaustausch sollte basierend auf der aktuellen Studienlage insbesondere bei Patienten ohne h\u00f6hergradige Encephalopathie erfolgen. In einem Teil dieser Patienten konnte mittels der Plasmaaustauschtherapie \u2013 im Falle eines fr\u00fchzeitigen Therapiebeginns und bei nur geringgradiger hepatischer Encephalopathie (Grad 1 und 2) \u2013 trotz initial prognostisch ung\u00fcnstiger Situation eine Lebertransplantation vermieden werden.<\/jats:p>\n                  <jats:p>Zum Monitoring unter Therapie wird die Messung der Kupferausscheidung im Sammelurin empfohlen. Die Messung von dieser nach einer 48-st\u00fcndigen Therapieunterbrechung korreliert mit der \u201efreien\u201c Kupfermenge im Serum besser als die Messung unter fortgef\u00fchrter Therapie. Neu ist zudem das \u201eExchangeable Copper\u201c als Therapieverlaufsparameter.<\/jats:p>","DOI":"10.1055\/a-2615-7284","type":"journal-article","created":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T22:38:29Z","timestamp":1780094309000},"page":"600-605","source":"Crossref","is-referenced-by-count":0,"title":["Aktuelle Entwicklungen zu Diagnose und Therapie des Morbus Wilson"],"prefix":"10.1055","volume":"151","author":[{"given":"Uta","family":"Merle","sequence":"additional","affiliation":[{"name":"Universit\u00e4tsklinikum Heidelberg","place":["Heidelberg"],"department":["Inn.Med. IV-Gastroent.\/Infektion\/"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2026,5,29]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"690","DOI":"10.1016\/j.jhep.2024.11.007","article-title":"EASL-ERN Clinical Practice Guidelines on Wilson's disease","volume":"82","author":"European Association for Study of L","year":"2025","journal-title":"J Hepatol"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"9037","DOI":"10.1038\/s41598-020-66099-2","article-title":"WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson's Disease","volume":"10","author":"M Kumar","year":"2020","journal-title":"Sci Rep"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"1476","DOI":"10.1093\/brain\/awt035","article-title":"A genetic study of Wilson's disease in the United Kingdom","volume":"136","author":"AJ Coffey","year":"2013","journal-title":"Brain"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1016\/j.dld.2024.09.002","article-title":"Low penetrance of frequent ATP7B mutations explains the low prevalence of Wilson disease. Lessons from real-life registries","volume":"57","author":"P Alonso-Castellano","year":"2025","journal-title":"Dig Liver Dis"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhepr.2025.101537","article-title":"Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis","volume":"7","author":"N Djebrani-Oussedik","year":"2025","journal-title":"JHEP Rep"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111\/liv.70089","article-title":"Relative Exchangeable Copper, Exchangeable Copper and Total Copper in the Diagnosis of Wilson Disease","volume":"45","author":"C Lorenzen","year":"2025","journal-title":"Liver Int"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.70024","article-title":"Performance of Relative Exchangeable Copper for the Diagnosis of Wilson Disease in Acute Liver Failure","volume":"48","author":"D Spirea","year":"2025","journal-title":"J Inherit Metab Dis"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"936","DOI":"10.1111\/his.15041","article-title":"Metallothionein: a game changer in histopathological diagnosis of Wilson disease","volume":"83","author":"H Wiethoff","year":"2023","journal-title":"Histopathology"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.modpat.2024.100628","article-title":"Validation of Metallothionein Immunohistochemistry as a Highly Sensitive Screening Test for Wilson Disease","volume":"38","author":"NL Stokes","year":"2025","journal-title":"Mod Pathol"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"1211","DOI":"10.1007\/s12072-025-10821-7","article-title":"Plasma exchange improves survival with native liver in Wilson disease with new Wilson's index \u2265 11 & early hepatic encephalopathy","volume":"19","author":"S Verma","year":"2025","journal-title":"Hepatol Int"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.trre.2025.100939","article-title":"Liver transplantation in patients with neurological Wilson disease: What can a five-decade systematic literature review teach us?","volume":"39","author":"A Poujois","year":"2025","journal-title":"Transplant Rev (Orlando)"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1186\/s13023-025-03545-2","article-title":"A comparative analysis in monitoring 24-hour urinary copper in wilson disease: sampling on or off treatment?","volume":"20","author":"I Mohr","year":"2025","journal-title":"Orphanet J Rare Dis"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1186\/s13023-025-03821-1","article-title":"Predictive value of liver enzymes in long-term prognosis of hepatic Wilson disease: results from the Wilson AEEH registry","volume":"20","author":"M Berenguer","year":"2025","journal-title":"Orphanet J Rare Dis"}],"container-title":["DMW - Deutsche Medizinische Wochenschrift"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2615-7284.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T22:38:32Z","timestamp":1780094312000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2615-7284"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,29]]},"references-count":13,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2026,5,29]]},"published-print":{"date-parts":[[2026,6]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2615-7284","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0012-0472","1439-4413"],"issn-type":[{"value":"0012-0472","type":"print"},{"value":"1439-4413","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,29]]}}}