Lehmann, Petra and Salzberger, Bernd and Haerle, Peter and Aksentijevich, Ivona and Kastner, Daniel and Schoelmerich, Juergen and Rosenfeld, Stephanie and Mueller-Ladner, Ulf (2010) Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site. MODERN RHEUMATOLOGY, 20 (3). pp. 311-315. ISSN 1439-7595, 1439-7609
Full text not available from this repository. (Request a copy)Abstract
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.
| Item Type: | Article |
|---|---|
| Uncontrolled 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 |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Innere Medizin I |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 29 Jul 2020 09:12 |
| Last Modified: | 29 Jul 2020 09:12 |
| URI: | https://pred.uni-regensburg.de/id/eprint/24651 |
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