The plodding diagnosis of monogenic autoinflammatory diseases in childhood: from the clinical scenery to laboratory investigation

被引：11

作者：

Rigante, Donato ^{[1
]}

Capoluongo, Ettore ^{[2
]}

机构：

[1] Univ Cattolica Sacro Cuore, Dept Pediat Sci, I-00168 Rome, Italy

[2] Univ Cattolica Sacro Cuore, Dept Biochem & Clin Biochem, I-00168 Rome, Italy

来源：

CLINICAL CHEMISTRY AND LABORATORY MEDICINE | 2011年 / 49卷 / 05期

关键词：

autoinflammatory disease; child; FAMILIAL MEDITERRANEAN FEVER; MEVALONATE KINASE-DEFICIENCY; CONGENITAL DYSERYTHROPOIETIC ANEMIA; RECURRENT MULTIFOCAL OSTEOMYELITIS; RECEPTOR ANTAGONIST ANAKINRA; PERIODIC SYNDROME TRAPS; QUALITY-OF-LIFE; HYPERIMMUNOGLOBULINEMIA-D; BLAU SYNDROME; FOLLOW-UP;

D O I：

10.1515/CCLM.2011.127

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Autoinflammatory diseases (AID) are inherited errors of innate immunity which, although individually uncommon, collectively set up an emerging chapter of medicine. Careful analysis and identification of AID is essential to prompt effective treatment and improve survival and quality of life in these patients. Research into pediatric AID is lagging behind studies in adults, though a better understanding of AID in infancy could lead to improved diagnostic protocols and reduce long-term disability. This review provides a detailed summary of monogenic AID in childhood to help pediatricians correctly recognize these conditions and also highlight recent developments in the laboratory diagnostic work-up.

引用

页码：783 / 791

页数：9

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