title: 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: Rheumatology Department, Lisbon Academic Medical Centre, Lisbon, Portugal, raquelpcmarques@gmail.com.
authors: Raquel
authors: R
authors: Campanilho-Marques
authors: Paul A
authors: PA
authors: Brogan
mesh_terms: D000893:Anti-Inflammatory Agents / Q000627:therapeutic use*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use*; D054078:Mevalonate Kinase Deficiency / Q000188:drug therapy*; D035781:Siblings; D016896:Treatment Outcome
chemical_list: D000893:Anti-Inflammatory Agents; D053590:Interleukin 1 Receptor Antagonist Protein