How to Diagnose and Manage Systemic Autoinflammatory Diseases in Childhood

被引：0
作者：
Bonnekoh H. [1 ]
Krause K. [1 ,2 ]
机构：
[1] Department of Dermatology and Allergy, Allergie-Centrum-Charité, Charité—Universitätsmedizin Berlin, Charitéplatz 1, Berlin
[2] Autoinflammation Reference Center Charité (ARC2), Charité—Universitätsmedizin Berlin, Berlin
来源：
Current Treatment Options in Allergy | 2015年 / 2卷 / 3期
关键词：
Autoinflammatory disease; Cryopyrin-associated periodic syndrome; Hereditary periodic fever; Interleukin-1; Interleukin-6; Systemic juvenile idiopathic arthritis; Urticaria;
D O I：
10.1007/s40521-015-0061-1
中图分类号：
学科分类号：
摘要：
Systemic autoinflammatory diseases (sAIDs) are severe disabling conditions associated with a significant morbidity and limited awareness. Cryopyrin-associated periodic syndrome (CAPS) and systemic juvenile idiopathic arthritis (sJIA) are two prototype sAIDs that present with chronic urticarial or maculo-papular rash in early childhood. A diagnosis of sAID relies on combined clinical symptoms, a positive family history, where applicable, and typical laboratory results. Treatment with anti-cytokine blockers targeting interleukin-1 (IL-1) or IL-6 is effective in reducing clinical symptoms and inflammatory markers and approved for the treatment of CAPS and/or sJIA. In order to prevent severe complications such as amyloidosis, destructive arthropathy or macrophage activation syndrome (MAS), it is important to diagnose patients early and to initiate anti-IL-1 blockade in symptomatic CAPS patients and anti-IL-1 or anti-IL-6 blockade in therapy-refractive sJIA patients without delay. © 2015, Springer International Publishing AG.
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页码：235 / 245
页数：10
相关论文
共 55 条
[1]  
McDermott M.F., Aksentijevich I., Galon J., McDermott E.M., Ogunkolade B.W., Centola M., Et al., Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes, Cell, 97, 1, pp. 133-144, (1999)
[2]  
Krause K., Grattan C.E., Bindslev-Jensen C., Gattorno M., Kallinich T., de Koning H.D., Et al., How not to miss autoinflammatory diseases masquerading as urticaria, Allergy, 67, 12, pp. 1465-1474, (2012)
[3]  
Federici S., Sormani M.P., Ozen S., Lachmann H.J., Amaryan G., Woo P., Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers, Ann Rheum Dis, 74, 5, pp. 799-805, (2015)
[4]  
Lepore L., Paloni G., Caorsi R., Alessio M., Rigante D., Ruperto N., Et al., Follow-up and quality of life of patients with cryopyrin-associated periodic syndromes treated with Anakinra, J Pediatr, 157, 2, pp. 310-315, (2010)
[5]  
Lachmann H.J., Goodman H.J., Gilbertson J.A., Gallimore J.R., Sabin C.A., Gillmore J.D., Et al., Natural history and outcome in systemic AA amyloidosis. N Engl J Med. United States: 2007 Massachusetts Medical, Society, pp. 2361-2371, (2007)
[6]  
Ter Haar N., Lachmann H., Ozen S., Woo P., Uziel Y., Modesto C., Et al., Treatment of autoinflammatory diseases: Results from the Eurofever Registry and a literature review, Ann Rheum Dis. England, pp. 678-685, (2013)
[7]  
Toplak N., Frenkel J., Ozen S., Lachmann H.J., Woo P., Kone-Paut I., Et al., An international registry on autoinflammatory diseases: the Eurofever experience, Ann Rheum Dis, 71, 7, pp. 1177-1182, (2012)
[8]  
Giamarellos-Bourboulis E.J., Mouktaroudi M., Bodar E., van Der Ven J., Kullberg B.J., Netea M.G., Et al., Crystals of monosodium urate monohydrate enhance lipopolysaccharide-induced release of interleukin 1 beta by mononuclear cells through a caspase 1-mediated process, Ann Rheum Dis. England, pp. 273-278, (2009)
[9]  
Masters S.L., Dunne A., Subramanian S.L., Hull R.L., Tannahill G.M., Sharp F.A., Et al., Activation of the NLRP3 inflammasome by islet amyloid polypeptide provides a mechanism for enhanced IL-1beta in type 2 diabetes, Nat Immunol. United States, pp. 897-904, (2010)
[10]  
Opipari A., Franchi L., Role of inflammasomes in intestinal inflammation and Crohn’s disease, Inflamm Bowel Dis. United States, pp. 173-181, (2015)
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