Mevalonate kinase deficiency in two sisters with therapeutic response to anakinra: case report and review of the literature

被引：11

作者：

Campanilho-Marques, Raquel ^{[1
,2
,3
]}

Brogan, Paul A. ^{[2
,3
]}

机构：

[1] Lisbon Acad Med Ctr, Dept Rheumatol, P-1649035 Lisbon, Portugal

[2] NHS Fdn Trust, Great Ormond St Hosp, Paediat Rheumatol Dept, London WC1N 3JH, England

[3] UCL Inst Child Hlth, London WC1N 3JH, England

来源：

CLINICAL RHEUMATOLOGY | 2014年 / 33卷 / 11期

关键词：

Anakinra; Hyper-IgD syndrome; Mevalonate kinase deficiency; Remission; PERIODIC FEVER SYNDROME; HYPERIMMUNOGLOBULINEMIA-D; INTERLEUKIN-1-BETA SECRETION; AUTOINFLAMMATORY DISEASES; IL-1-BETA RELEASE; CASPASE-1; INFLAMMATION; ACTIVATION; DIAGNOSIS; SPECTRUM;

D O I：

10.1007/s10067-014-2523-4

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

u Mevalonate kinase deficiency (MKD) is a rare, hereditary autoinflammatory condition characterized by recurrent inflammatory episodes. Depending on the residual mevalonate kinase activity, the clinical spectrum ranges from a relatively mild periodic fever syndrome to a lethal metabolic disease. Data on therapeutic options for MKD are currently limited and rely generally on case reports and small series. Recent reports show promising results with anakinra and etanercept to treat the attacks. We report two sisters treated with good, but partial response, to continuous daily anakinra (interleukin-1 receptor antagonist).

引用

页码：1681 / 1684

页数：4

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