BRIDGING THE GAP BETWEEN THE CLINICIAN AND THE PATIENT WITH CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES

被引：63

作者：

Cantarini, L. ^{[1
]}

Lucherini, O. M. ^{[2
]}

Frediani, B. ^{[1
]}

Brizi, M. G. ^{[1
]}

Bartolomei, B. ^{[3
]}

Cimaz, R. ^{[4
]}

Galeazzi, M. ^{[1
]}

Rigante, D. ^{[3
]}

机构：

[1] Univ Siena, Rheumatol Unit, Policlin Le Scotte, Interdept Res Ctr Syst Autoimmune & Autoinflammat, I-53100 Siena, Italy

[2] Univ Siena, Dept Evolutionary Biol, I-53100 Siena, Italy

[3] Univ Cattolica Sacro Cuore, Dept Pediat Sci, Policlin A Gemelli, Rome, Italy

[4] Univ Florence, I-50121 Florence, Italy

来源：

INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY | 2011年 / 24卷 / 04期

关键词：

Cryopyrin-associated periodic syndromes; familial cold autoinflammatory syndrome; Muckle-Wells syndrome; chronic infantile neurological cutaneous articular syndrome; neonatal onset multisystem inflammatory disease; COLD AUTOINFLAMMATORY SYNDROME; MUCKLE-WELLS-SYNDROME; LEUCINE-RICH REPEAT; INFLAMMATORY DISEASE; CIAS1; MUTATIONS; AA AMYLOIDOSIS; SYNDROMES CAPS; FOLLOW-UP; ANAKINRA; DEAFNESS;

D O I：

10.1177/039463201102400402

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

071005 [微生物学]; 100108 [医学免疫学];

摘要：

Cryopyrin-associated periodic syndromes are categorized as a spectrum of three autoinflammatory diseases, namely familial cold auto-inflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurological cutaneous articular syndrome. All are caused by mutations in the NLRP3 gene coding for cryopyrin and result in active interleukin-1 release: their rarity and shared clinical indicators involving skin, joints, central nervous system and eyes often mean that correct diagnosis is delayed. Onset occurs early in childhood, and life-long therapy with interleukin-1 blocking agents usually leads to tangible clinical remission and inflammatory marker normalization in a large number of patients, justifying the need to facilitate early diagnosis and thus avoid irreversible negative consequences for tissues and organs.

引用

页码：827 / 836

页数：10

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