Autoinflammatory diseases

被引：4

作者：

Mosdosi Bernadett ^{[1
]}

Toth Beata ^{[2
]}

机构：

[1] Pecsi Tud Egyet, Altalanos Orvostud Kar, Klin Kozpont, Gyermekgyogyaszati Klin, Pecs, Hungary

[2] Debreceni Egyet, Altalanos Orvostud Kar, Lab Med Int, Debrecen, Hungary

来源：

ORVOSI HETILAP | 2018年 / 159卷 / 23期

关键词：

fever; autoinflammatory disorders; inflammasome; interleukin-1; FAMILIAL MEDITERRANEAN FEVER; MEVALONATE KINASE-DEFICIENCY; HEREDITARY PERIODIC FEVER; HYPERIMMUNOGLOBULINEMIA-D; COLCHICINE TREATMENT; NLRP3; INFLAMMASOME; TNF-RECEPTOR; MUTATIONS; AMYLOIDOSIS; DIAGNOSIS;

D O I：

10.1556/650.2018.31068

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Autoinflammatory diseases are disorders of the innate immune system characterized by recurrent systematic inflammation and serious complications. Dysregulation of inflammasome and overproduction of interleukin-1 play a major role in the pathogenesis of autoinflammatory diseases. The diagnosis of these rare conditions rely on recognising the pattern of presentation and differential diagnosis. Manifestations may include fever, rash, serositis (pleuritis and peritonitis), arthritis, meningitis and uveitis. Secondary amyloidosis may complicate longstanding disease. Advances in our understanding of the molecular and pathophysiological basis of the autoinflammatory diseases have resulted in new treatment strategies. Early diagnosis and effective therapy are critical to prevent irreversible organ damage. The purpose of this review is to describe the major clinical, genetic, and therapeutic features of the most common autoinflammatory syndromes.

引用

页码：898 / 907

页数：10

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