title: Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency.
abstract: Mevalonate kinase deficiency is a rare inborn disorder of isoprenoid and sterol biosynthesis characterized by a recurrent autoinflammatory syndrome and, in most severe cases, psychomotor delay. Clinical manifestations can be very complex and, in some cases, mimic a chronic inflammatory disease. Diagnosis is also complex and often requires immunologic, genetic, and biochemical investigations. There is no standardized therapy, but biological agents could help to control inflammatory complaints in some cases. A severe case of mevalonate kinase deficiency that was associated with nephritis and successfully treated with anakinra (interleukin 1 receptor antagonist) is reported here, and new insights into diagnosis and therapy of this complex disorder are discussed.
authors.affiliation: Institute of Child Health IRCCS Burlo Garofolo, University of Trieste, Via dell'Istria 65/1, 34137 Trieste, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Nevyjel
authors.forename: Alessandra
authors.initials: A
authors.lastname: Pontillo
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Calligaris
authors.forename: Alberto
authors.initials: A
authors.lastname: Tommasini
authors.forename: Andrea
authors.initials: A
authors.lastname: D'Osualdo
authors.forename: Hans R
authors.initials: HR
authors.lastname: Waterham
authors.forename: Marilena
authors.initials: M
authors.lastname: Granzotto
authors.forename: Sergio
authors.initials: S
authors.lastname: Crovella
authors.forename: Egidio
authors.initials: E
authors.lastname: Barbi
authors.forename: Alessandro
authors.initials: A
authors.lastname: Ventura
mesh_terms: D006801:Humans; D007223:Infant; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use*; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000188:drug therapy*; D008297:Male; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency*; D012720:Severity of Illness Index
chemical_list: D053590:Interleukin 1 Receptor Antagonist Protein; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase