{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,3,6]],"date-time":"2025-03-06T05:19:28Z","timestamp":1741238368536,"version":"3.38.0"},"reference-count":4,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Klinikum der Universit\u00e4t M\u00fcnchen"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Innere Medizin"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>Zusammenfassung<\/jats:title>\n          <jats:p>Vorgestellt wird der Fall eines 33-j\u00e4hrigen Mannes mit rezidivierenden Ikterusepisoden und H\u00e4molysen seit der Kindheit, die lange als Morbus Meulengracht fehlgedeutet wurden. In der Folge entwickelten sich bei dem Patienten auch eine Splenomegalie und Gallensteine in Verbindung mit einer Eisen\u00fcberladung. Auf Basis gendiagnostischer Untersuchungen wurde eine heredit\u00e4re Xerozytose diagnostiziert, das hei\u00dft eine Erythrozytenmembranst\u00f6rung, die rezidivierende H\u00e4molysen verursacht. Die Diagnose der Xerozytose ist oft eine Herausforderung. Die H\u00e4ufigkeit der Erkrankung wird m\u00f6glicherweise untersch\u00e4tzt, da eine mikroskopische Blutuntersuchung h\u00e4ufig keine typischen Befunde liefert. Zudem f\u00e4llt der Eosin-5-Maleimid(EMA)-Test, der zur Diagnose anderer Erythrozytenmembranst\u00f6rungen eingesetzt wird, normal aus. In F\u00e4llen von Splenomegalie, Eisen\u00fcberladung und rezidivierender H\u00e4molyse oder im Falle eines klinisch diagnostizierten Morbus Meulengracht in Kombination mit einem der zuvor genannten Symptome sollten weiterf\u00fchrende Untersuchungen und gegebenenfalls auch eine gendiagnostische Abkl\u00e4rung erwogen werden.<\/jats:p>","DOI":"10.1007\/s00108-024-01801-4","type":"journal-article","created":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T16:01:49Z","timestamp":1727798509000},"page":"328-330","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Rezidivierende H\u00e4molysen und Eisen\u00fcberladung unklarer Genese","Recurrent hemolysis and iron overload of unclear origin"],"prefix":"10.1007","volume":"66","author":[{"given":"Laura","family":"Distelmaier","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Gebhard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antje","family":"Holz\u00e4pfel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"von Bergwelt-Baildon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebastian","family":"Theurich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holger","family":"Cario","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karsten","family":"Spiekermann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,10,1]]},"reference":[{"issue":"11","key":"1801_CR1","doi-asserted-by":"publisher","first-page":"1273","DOI":"10.1182\/blood-2015-04-642496","volume":"126","author":"R Rapetti-Mauss","year":"2015","unstructured":"Rapetti-Mauss\u00a0R, Lacoste\u00a0C et\u00a0al (2015) A\u00a0mutation in the Gardos channel is associated with hereditary xerocytosis. 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Am J Hematol 95(2):188\u2013197","journal-title":"Am J Hematol"},{"issue":"8","key":"1801_CR4","doi-asserted-by":"publisher","first-page":"1554","DOI":"10.3324\/haematol.2018.205328","volume":"104","author":"V Picard","year":"2019","unstructured":"Picard\u00a0V, Guitton\u00a0C et\u00a0al (2019) Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a\u00a0retrospective series of 126 patients. Haematologica 104(8):1554\u20131564","journal-title":"Haematologica"}],"container-title":["Die Innere Medizin"],"original-title":[],"language":"de","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00108-024-01801-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00108-024-01801-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00108-024-01801-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,5]],"date-time":"2025-03-05T14:24:51Z","timestamp":1741184691000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00108-024-01801-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,1]]},"references-count":4,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["1801"],"URL":"https:\/\/doi.org\/10.1007\/s00108-024-01801-4","relation":{},"ISSN":["2731-7080","2731-7099"],"issn-type":[{"type":"print","value":"2731-7080"},{"type":"electronic","value":"2731-7099"}],"subject":[],"published":{"date-parts":[[2024,10,1]]},"assertion":[{"value":"10 September 2024","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 October 2024","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Einhaltung ethischer Richtlinien"}},{"value":"L.\u00a0Distelmaier, C.\u00a0Gebhard, A.\u00a0Holz\u00e4pfel, M.\u00a0von Bergwelt, S.\u00a0Theurich, H.\u00a0Cario und K.\u00a0Spiekermann geben 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. F\u00fcr Bildmaterial oder anderweitige Angaben innerhalb des Manuskripts, \u00fcber die Patient\/-innen zu identifizieren sind, liegt von ihnen und\/oder ihren gesetzlichen Vertretern\/Vertreterinnen eine schriftliche Einwilligung vor.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}}]}}