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

Abstract

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
• Journal: Clinical rheumatology (Clin Rheumatol) Vol. 33 Issue 11 Pg. 1681-4 (Nov 2014) ISSN: 1434-9949 [Electronic] Germany
• PMID: 24531849 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• Anti-Inflammatory Agents
• Interleukin 1 Receptor Antagonist Protein

Topics

• Anti-Inflammatory Agents (therapeutic use)
• Child, Preschool
• Female
• Humans
• Interleukin 1 Receptor Antagonist Protein (therapeutic use)
• Mevalonate Kinase Deficiency (drug therapy)
• Siblings
• Treatment Outcome