Autoinflammatory diseases in pediatrics

被引:0
作者
Meiorin, Silvia M. [1 ]
Espada, Graciela [1 ]
Rose, Carlos [2 ]
机构
[1] Hosp Ninos Dr Ricardo Gutierrez, Div Rheumatol, Buenos Aires, DF, Argentina
[2] Nemours Alfred I duPont Hosp Children, Delaware, OH USA
来源
ARCHIVOS ARGENTINOS DE PEDIATRIA | 2013年 / 111卷 / 03期
关键词
hereditary autoinflammatory diseases; hereditary periodic fever syndromes; inflammasome; PERIODIC FEVER SYNDROME; FAMILIAL-MEDITERRANEAN-FEVER; MEVALONATE KINASE-DEFICIENCY; QUALITY-OF-LIFE; HYPERIMMUNOGLOBULINEMIA-D; SYNDROME TRAPS; AA AMYLOIDOSIS; GRANULOMATOUS ARTHRITIS; INFLAMMATORY DISORDERS; INTERNATIONAL REGISTRY;
D O I
10.5546/aap.2013.237
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Monogenic autoinflammatory syndromes are caused by mutations in protein-coding genes that have a pivotal role in the regulation of the inflammatory response. Due to their genetic nature, most of these syndromes usually begin during childhood. They are clinically characterized by recurrent episodes of systemic inflammation (fever with different clinical manifestations, such as skin rash, serositis or arthritis) associated with elevation of acute phase reactants. During symptomfree intervals, patients achieve clinical wellbeing and normalize inflammatory parameters. Amyloidosis is a serious long-term complication. In this update we will discuss the clinical presentation and therapeutic strategies for these diseases in pediatrics.
引用
收藏
页码:237 / 243
页数:7
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