罕见肿瘤坏死因子受体相关周期性综合征相关突变 I170N 影响 TNFR1A 切割位点，其在家族内表达具有可变性。
Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site.
机构信息
University Clinic of Regensburg, Regensburg, Germany.
出版信息
Mod Rheumatol. 2010 Jun;20(3):311-5. doi: 10.1007/s10165-010-0273-y. Epub 2010 Feb 19.
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.
摘要
我们报告了一例 TNF 受体相关周期性综合征（TRAPS）的 33 岁女性患者及其 58 岁的父亲，其父亲因 TRAPS 相关的 AA 淀粉样变性已发展为终末期肾病。TRAPS 由 I170N 突变引起，此前与淀粉样变性无关。尚不清楚像我们这样仅有轻度受累的患者是否会从治疗中受益，因为她的父亲疾病的严重程度。对该问题的相关文献进行了回顾。
相似文献
1
Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site.罕见肿瘤坏死因子受体相关周期性综合征相关突变 I170N 影响 TNFR1A 切割位点，其在家族内表达具有可变性。
Mod Rheumatol. 2010 Jun;20(3):311-5. doi: 10.1007/s10165-010-0273-y. Epub 2010 Feb 19.
2
Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review.肿瘤坏死因子受体 1 相关周期性综合征（TRAPS）相关的 AA 淀粉样变性：一项全国性病例系列和系统评价。
Rheumatology (Oxford). 2021 Dec 1;60(12):5775-5784. doi: 10.1093/rheumatology/keab252.
3
First Case of TNF-Receptor-Associated Autoinflammatory Syndrome (TRAPS) in Bulgaria.保加利亚首例肿瘤坏死因子受体相关自身炎症综合征（TRAPS）
Folia Med (Plovdiv). 2016 Sep 1;58(3):211-214. doi: 10.1515/folmed-2016-0025.
4
Novel mutation identified in severe early-onset tumor necrosis factor receptor-associated periodic syndrome: a case report.在严重早发型肿瘤坏死因子受体相关周期性综合征中鉴定出的新突变：病例报告
BMC Pediatr. 2017 Apr 20;17(1):108. doi: 10.1186/s12887-017-0856-2.
5
Serum leptin, resistin, visfatin and adiponectin levels in tumor necrosis factor receptor-associated periodic syndrome (TRAPS).肿瘤坏死因子受体相关周期性综合征（TRAPS）患者血清瘦素、抵抗素、内脏脂肪素和脂联素水平。
Clin Exp Rheumatol. 2012 May-Jun;30(3 Suppl 72):S108-14. Epub 2012 Sep 25.
6
Canakinumab efficacy and long-term tocilizumab administration in tumor necrosis factor receptor-associated periodic syndrome (TRAPS).卡那单抗在肿瘤坏死因子受体相关周期性综合征（TRAPS）中的疗效及托珠单抗长期给药情况
Rheumatol Int. 2015 Nov;35(11):1943-7. doi: 10.1007/s00296-015-3305-2. Epub 2015 Jun 6.
7
Functional analysis of a novel G87V TNFRSF1A mutation in patients with TNF receptor-associated periodic syndrome.新型 TNFRSF1A 基因 G87V 突变与 TNF 受体相关周期性综合征的功能分析。
Clin Exp Immunol. 2019 Dec;198(3):416-429. doi: 10.1111/cei.13365. Epub 2019 Sep 4.
8
[Tumor necrosis receptor associated periodic syndrome (TRAPS): State of the art].[肿瘤坏死因子受体相关周期性综合征（TRAPS）：最新进展]
Rev Med Interne. 2018 Apr;39(4):256-264. doi: 10.1016/j.revmed.2018.02.002. Epub 2018 Mar 7.
9
Different presentations in patients with tumor necrosis factor receptor-associated periodic syndrome mutations: report of two cases.肿瘤坏死因子受体相关周期性综合征突变患者的不同表现：两例报告
Turk J Pediatr. 2013 Jan-Feb;55(1):78-81.
10
Clinical and genetic features of Chinese adult patients with tumour necrosis factor receptor-associated periodic fever syndrome.中国成年肿瘤坏死因子受体相关周期性发热综合征患者的临床和遗传特征。
Rheumatology (Oxford). 2020 Aug 1;59(8):1969-1974. doi: 10.1093/rheumatology/kez569.
引用本文的文献
1
Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes.成人Still 病与遗传性周期性发热综合征之间存在遗传重叠的证据。
Rheumatol Int. 2018 Jan;38(1):111-120. doi: 10.1007/s00296-017-3885-0. Epub 2017 Nov 20.
2
Tumor necrosis factor-associated periodic syndrome in adults.成人肿瘤坏死因子相关周期性综合征。
Rheumatol Int. 2018 Jan;38(1):3-11. doi: 10.1007/s00296-017-3820-4. Epub 2017 Sep 23.
本文引用的文献
1
Tumor necrosis factor receptor 1-associated periodic syndrome without fever: cytokine profile before and during etanercept treatment.肿瘤坏死因子受体 1 相关周期性综合征不伴发热：依那西普治疗前后的细胞因子谱。
Rheumatol Int. 2009 Dec;30(2):207-12. doi: 10.1007/s00296-009-0937-0.
2
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) or familial Hibernian fever: presentation in a four-day-old infant.肿瘤坏死因子受体相关周期性综合征（TRAPS）或家族性爱尔兰热：一名4日龄婴儿的病例报告
J Clin Rheumatol. 2008 Dec;14(6):342-5. doi: 10.1097/RHU.0b013e31817d109b.
3
Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome.阿那白滞素对肿瘤坏死因子受体相关周期性综合征患者的持续疗效。
Arthritis Rheum. 2008 May;58(5):1516-20. doi: 10.1002/art.23475.
4
TNF receptor-associated periodic syndrome (TRAPS): description of a novel TNFRSF1A mutation and response to etanercept.肿瘤坏死因子受体相关周期性综合征（TRAPS）：一种新型TNFRSF1A突变的描述及对依那西普的反应
Eur J Pediatr. 2008 Dec;167(12):1421-5. doi: 10.1007/s00431-008-0685-2. Epub 2008 Apr 12.
5
Comment on: Failure of anti-TNF therapy in TNF receptor 1-associated periodic syndrome (TRAPS).关于《肿瘤坏死因子受体1相关周期性综合征（TRAPS）中抗TNF治疗的失败》的评论
Rheumatology (Oxford). 2008 Feb;47(2):228-9. doi: 10.1093/rheumatology/kem243. Epub 2007 Dec 3.
6
Comment on: Failure of anti-TNF therapy in TNF receptor 1-associated periodic syndrome (TRAPS).
Rheumatology (Oxford). 2007 Dec;46(12):1865-6. doi: 10.1093/rheumatology/kem231. Epub 2007 Oct 29.
7
8
Failure of anti-TNF therapy in TNF Receptor 1-Associated Periodic Syndrome (TRAPS).
Rheumatology (Oxford). 2007 Jul;46(7):1211-2. doi: 10.1093/rheumatology/kel298. Epub 2006 Aug 25.
9
Intestinal pseudo-obstruction as a manifestation of tumor necrosis factor receptor-associated periodic syndrome.肠道假性梗阻作为肿瘤坏死因子受体相关周期性综合征的一种表现。
Dig Dis Sci. 2006 Jun;51(6):1061-2. doi: 10.1007/s10620-006-8009-8.
10
Successful treatment using tacrolimus (FK506) in a patient with TNF receptor-associated periodic syndrome (TRAPS) complicated by monocytic fasciitis.
Rheumatology (Oxford). 2006 Sep;45(9):1171-3. doi: 10.1093/rheumatology/kel178. Epub 2006 Jun 26.
Zotero 插件