期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

Cryopyrin蛋白相关综合征1例

A Case of Cryopyrin-associated Periodic Syndromes
下载PDF
导出
摘要 Cryopyrin蛋白相关综合征(CAPS)是一组罕见的遗传性自身炎症反应综合征,与CIAS1/PYPAF1/NALP3基因突变有关。临床共同表现包括发病年龄早,周期性发作的青斑样、荨麻疹或荨麻疹样皮损,伴发热寒战、乏力、关节痛,病情多与冷刺激相关,表现冬重夏轻。部分患者还有眼部症状和神经系统障碍,甚至发展为系统淀粉样变。抗组胺药物治疗无效,而抗IL-1生物制剂治疗有理想效果。我们近期遇诊1个典型患者,现作报道以供临床参考。 Cryopyrin-associated periodic syndrome （CAPS） is a rare spectrum of rare, inherited auto-inflammatory diseases which is associated with the mutation of CIAS1/PYPAF1/NALP3 gene. The clinical features of CAPS are cold-induced, and manifest as early-onset, periodic livedo, urticaria or urticaria-like eruption accompanied with fever, fatigue and arthralgia. Some patients may also have ophthalmological and neurological involvement, and even develop to systemic amyloidosis. Antihistamine drugs are ineffective in this disorder, but the biological agents which block the interleukin-I show satisfactory effect on the treatment of CAPS. Here we present a typical case with CAPS.
作者 陈永锋 叶庭路 陈文静 黄莉宁 潘慧清
机构地区 广东省皮肤性病防治中心皮肤性病科
出处 《皮肤性病诊疗学杂志》 2010年第4期265-267,273,共4页 Journal of Diagnosis and Therapy on Dermato-venereology
关键词 Cryopyrin蛋白相关综合征 Cryopyrin-associated periodic syndromes
分类号 R593.2 [医药卫生—内科学]
  • 相关文献

参考文献12

  • 1Shinkai K,McCalmont TH,Leslie KS.Cryopyrin-associated periodic syndromes and autoinflammation[J].Clin Exp Dermatol,2008,33(1):1-9.
  • 2Jesus AA,Silva CA,Segundo GR,et al.Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS):description of a rare non-exon 3 and a novel CIAS1 missense mutation[J].Clin Immunol,2008,28(2):134-138.
  • 3Hoffman HM,Mueller JL,Broide DH,et al.Mutations of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome[J].Nat Genet,2001,29(3):301-305.
  • 4Feldmann J,Prieur AM,Quartier P,et al.Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1,a gene highly expressed in polymorphonuclear cells and chondrocytes[J].Am J Hum Genet,2002,71(1):198-203.
  • 5Martinon F,Tschopp J.Inflammatory caspases:linking an intracellular innate immune system to autoinflammatory diseases[J].Cell,2004,117(5):561-574.
  • 6Lequerre T,Vittecoq O,Saugier-Veber P,et al.A cryopyrin-associated periodic syndrome with joint destruction[J].Rheumatology (Oxford),2007,46(4):709-714.
  • 7邱敏蕾,李慧,顾军.Cryopyrin蛋白相关周期性综合征一例[J].国际皮肤性病学杂志,2009,35(2):68-70. 被引量：1
  • 8Kitley JL,Lachmann HJ,Pinto A,et al.Neurologic manifestations of the cryopyrin-associated periodic syndrome[J].Neurology,2010,74(16):1267-1270.
  • 9Church LD,Savic S,McDermott MF.Long term management of patients with cryopyrin-associated periodic syndromes (CAPS):focus on rilonacept (IL-1 Trap)[J].Biologics,2008,2(4):733-742.
  • 10Lachmann HJ,Kone-Paut I,Kuemmerle-Deschner JB,et al.Use of canakinumab in the cryopyrin-associated periodic syndrome[J].N Engl J Med,2009,360(23):2416-2425.

二级参考文献6

  • 1http://www.capscommunity.com/caps_fact_caps pat.html.
  • 2Shinkai K, McCalm ount TH, Leslie KS. Cryopyrin-associated periodic syndromes and autoinflammation. Clin Exp Dermatol, 2008, 33( 1 ): 1-9.
  • 3Hoffman HM, Wanderer AA, Broide DH. Familial cold autoinflammatory syndrome: Phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol, 2001, 108(4): 615-620.
  • 4Koike R, Kubota T, Hara Y, et al. A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin). Mod Rheumatol, 2007, 17(6): 496-499.
  • 5Gunduz Z, Dursun I, Arostegui JI, et al. A fatal turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIASI gene mutation. Rheumatol Int, 2008, 28(4): 379-383.
  • 6Jesus AA, Silva CA, Sequndo GR, et al. Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation. J Clin Immunol, 2008, 28 (2): 134-138.
皮肤性病诊疗学杂志
2010年 第4期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部