Lehmann, Petra ; Salzberger, Bernd ; Haerle, Peter ; Aksentijevich, Ivona ; Kastner, Daniel ; Schoelmerich, Juergen ; Rosenfeld, Stephanie ; Mueller-Ladner, Ulf
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| Dokumentenart: | Artikel |
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| Titel eines Journals oder einer Zeitschrift: | Modern Rheumatology |
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| Verlag: | SPRINGER |
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| Ort der Veröffentlichung: | NEW YORK |
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| Band: | 20 |
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| Nummer des Zeitschriftenheftes oder des Kapitels: | 3 |
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| Seitenbereich: | S. 311-315 |
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| Datum: | 2010 |
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| Institutionen: | Medizin > Lehrstuhl für Innere Medizin I |
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| Identifikationsnummer: | | Wert | Typ |
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| 10.1007/s10165-010-0273-y | DOI |
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| Stichwörter / Keywords: | SYNDROME TRAPS; MONOCYTIC FASCIITIS; RENAL AMYLOIDOSIS; ETANERCEPT; FEVER; TNFRSF1A; PATHOGENESIS; EPISODES; THERAPY; FAILURE; Hereditary fever syndrome; Tumor necrosis factor-receptor associated periodic syndrome; Etanercept; Amyloidosis |
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| Dewey-Dezimal-Klassifikation: | 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin |
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| Status: | Veröffentlicht |
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| Begutachtet: | Ja, diese Version wurde begutachtet |
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| An der Universität Regensburg entstanden: | Ja |
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| Dokumenten-ID: | 66086 |
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Web of Science
Zusammenfassung
We report on a 33-year-old female patient with a relatively mild clinical case of TNF-receptor associated periodic syndrome (TRAPS) and her 58-year-old father in whom end-stage renal disease due to TRAPS-related AA-amyloidosis has already developed. TRAPS was caused by a I170N mutation that has previously not been associated with amyloidosis. It remains unclear if an only mildly affected patient ...
Zusammenfassung
We report on a 33-year-old female patient with a relatively mild clinical case of TNF-receptor associated periodic syndrome (TRAPS) and her 58-year-old father in whom end-stage renal disease due to TRAPS-related AA-amyloidosis has already developed. TRAPS was caused by a I170N mutation that has previously not been associated with amyloidosis. It remains unclear if an only mildly affected patient such as ours would benefit from treatment considering her father's severe course of disease. The relevant literature on this problem is reviewed.