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Mevalonate kinase deficiency in two sisters with therapeutic response to anakinra: case report and review of the literature.
MedLine Citation:
PMID:  24531849     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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).
Authors:
Raquel Campanilho-Marques; Paul A Brogan
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-2-15
Journal Detail:
Title:  Clinical rheumatology     Volume:  -     ISSN:  1434-9949     ISO Abbreviation:  Clin. Rheumatol.     Publication Date:  2014 Feb 
Date Detail:
Created Date:  2014-2-17     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8211469     Medline TA:  Clin Rheumatol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
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