title: Weekly oral alendronate in mevalonate kinase deficiency.
abstract: BACKGROUND
  Mevalonate kinase deficiency (MKD) is caused by mutations in the MVK gene, encoding the second enzyme of mevalonate pathway, which results in subsequent shortage of downstream compounds, and starts in childhood with febrile attacks, skin, joint, and gastrointestinal symptoms, sometimes induced by vaccinations.
  
  
  METHODS
  For a history of early-onset corticosteroid-induced reduction of bone mineral density in a 14-year-old boy with MKD, who also had presented three bone fractures, we administered weekly oral alendronate, a drug widely used in the management of osteoporosis and other high bone turnover diseases, which blocks mevalonate and halts the prenylation process.
  
  
  RESULTS
  All of the patient's MKD clinical and laboratory abnormalities were resolved after starting alendronate treatment.
  
  
  CONCLUSIONS
  This observation appears enigmatic, since alendronate should reinforce the metabolic block characterizing MKD, but is crucial because of the ultimate improvement shown by this patient. The anti-inflammatory properties of bisphosphonates are a new question for debate among physicians across various specialties, and requires further biochemical and clinical investigation.
authors.affiliation: Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Rheumatology Unit, Policlinico Le Scotte, University of Siena, Siena, Italy. cantariniluca@hotmail.com.
authors.forename: Luca
authors.initials: L
authors.lastname: Cantarini
authors.forename: Antonio
authors.initials: A
authors.lastname: Vitale
authors.forename: Flora
authors.initials: F
authors.lastname: Magnotti
authors.forename: Orso Maria
authors.initials: OM
authors.lastname: Lucherini
authors.forename: Francesco
authors.initials: F
authors.lastname: Caso
authors.forename: Bruno
authors.initials: B
authors.lastname: Frediani
authors.forename: Mauro
authors.initials: M
authors.lastname: Galeazzi
authors.forename: Donato
authors.initials: D
authors.lastname: Rigante
mesh_terms: D000293:Adolescent; D019386:Alendronate / Q000008:administration & dosage / Q000627:therapeutic use*; D015519:Bone Density / Q000187:drug effects; D050071:Bone Density Conservation Agents / Q000627:therapeutic use; D006801:Humans; D008297:Male; D054078:Mevalonate Kinase Deficiency / Q000188:drug therapy*
chemical_list: D050071:Bone Density Conservation Agents; D019386:Alendronate