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Die Serum Amyloid A-(AA)-Amyloidose ist Folge chronischer Inflammationsprozesse, wobei das Vorliegen autoinflammatorischer Erkrankungen, insbesondere des famili\u00e4ren Mittelmeerfiebers (FMF), eine der h\u00e4ufigsten Ursachen darstellt. Insbesondere bei Patient:innen aus Gebieten mit hoher Pr\u00e4valenz und unklarer Niereninsuffizienz sollten genetisch bedingte autoinflammatorische Erkrankungen differenzialdiagnostisch ber\u00fccksichtigt werden.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Fallbericht<\/jats:title>\n                    <jats:p>Wir berichten \u00fcber den Fall einer 50-j\u00e4hrigen Patientin armenischer Herkunft mit Zustand nach Nierentransplantation 2022 bei terminaler Niereninsuffizienz unklarer Genese. Trotz ad\u00e4quater Immunsuppression zeigte sich eine zunehmende Transplantatdysfunktion mit progredienter Proteinurie. Zus\u00e4tzlich zeigten sich persistierend erh\u00f6hte serologische Entz\u00fcndungsparameter\u00a0\u2013 allerdings ohne begleitende klinische Symptome. In der wiederholten Transplantatbiopsie gelang letztlich mittels Kongorotf\u00e4rbung der Nachweis glomerul\u00e4rer Amyloidablagerungen; immunhistochemisch best\u00e4tigte sich eine AA-Amyloidose. Eine genetische Analyse ergab eine Compound-Heterozygotie im MEFV-Gen (Met694Val\/Val726Ala). Wir stellten die Diagnose eines famili\u00e4ren Mittelmeerfiebers Typ\u00a0II mit systemischer Amyloidose und initiierten eine antiinflammatorische Therapie mit Colchicin. Das Typ-II-FMF verl\u00e4uft prim\u00e4r subklinisch und manifestiert sich erstmals \u00fcber das Auftreten einer systemischen, meist renalen Typ-AA-Amyloidose.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Schlussfolgerung<\/jats:title>\n                    <jats:p>Der vorliegende Fall verdeutlicht die Notwendigkeit einer sorgf\u00e4ltigen differenzialdiagnostischen Abkl\u00e4rung bei progredienter Niereninsuffizienz unklarer Genese in Kombination mit persistierender serologischer Inflammation. Bei terminaler Niereninsuffizienz unklarer Ursache und systemischen Entz\u00fcndungszeichen sollte auch an seltene Ursachen wie eine AA-Amyloidose gedacht werden\u00a0\u2013 insbesondere bei famili\u00e4rer oder ethnisch bedingter Pr\u00e4disposition kann eine genetische Diagnostik f\u00fcr FMF sinnvoll sein.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s00108-025-02019-8","type":"journal-article","created":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T11:14:23Z","timestamp":1763464463000},"page":"574-581","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Eine ungew\u00f6hnliche Ursache f\u00fcr eine Nierentransplantation","An unusual cause for kidney transplantation"],"prefix":"10.1007","volume":"67","author":[{"given":"Phillip","family":"Kremer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thorsten","family":"Wiech","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ina","family":"K\u00f6tter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malte","family":"Kluger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tobias","family":"Huber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Krusche","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tingting","family":"Xiong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,11,18]]},"reference":[{"key":"2019_CR1","unstructured":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/. 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