title: [Mevalonate kinase deficiency in 2016].
abstract: Mevalonate kinase deficiency is a rare, autosomal recessive, auto-inflammatory disease. This results from mutations in the gene MVK coding for the enzyme mevalonate kinase. This enzyme is involved in cholesterol and isoprenoids synthesis. Depending partially of the residual activity of the mevalonate kinase, the clinical spectrum realizes a continuum which extends from the mild phenotype of the hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) to a lethal form of mevalonic aciduria. The HIDS is characterized by recurrent episodes of fever with an intense inflammatory syndrome, accompanied with lymphadenopathy, abdominal pain, diarrhea, arthralgia, hepatomegaly, splenomegaly and skin rash. The first attack more frequently takes place in the first year of life, even during the neonatal period, where it can be confused with a maternofetal infection. There is furthermore in mevalonate aciduria a psychomotor retardation, a failure to thrive, a cerebellar ataxia, a dysmorphic syndrome and a reduction of the visual acuity. The diagnosis is based on the mevalonic aciduria during febrile attack. Genetics confirm the diagnosis in more than 80 % of the cases. The dosage of IgD, low sensitive and specific, has no interest. There is no reference treatment. The less severe forms can be treated by non-steroidal anti-inflammatory drugs or steroids during febrile attacks. The most severe patients can be treated by biotherapy: antagonists of IL-1, TNF-α and IL-6.
authors.affiliation: Service de rhumatologie pédiatrique, centre de référence des maladies auto-inflammatoires, université de Paris-Sud, CHU de Bicêtre, AP-HP, 78, rue du Général-Leclerc, 94275 le Kremlin-Bicêtre cedex, France; Unité 1138, institut national de la santé et de la recherche médicale, 75006 Paris, France. Electronic address: caroline.galeotti@aphp.fr.
authors.forename: C
authors.initials: C
authors.lastname: Galeotti
authors.affiliation: Service de médecine interne, centre de référence des amyloses d'origine inflammatoire et de la fièvre méditerranéenne familiale, hôpital Tenon, université Pierre-et-Marie-Curie, 20, rue de la Chine, 75020 Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Georgin-Lavialle
authors.affiliation: Laboratoire de génétique des maladies rares et auto-inflammatoires, hôpital Arnaud-de-Villeneuve, 34295 Montpellier, France.
authors.forename: G
authors.initials: G
authors.lastname: Sarrabay
authors.affiliation: Laboratoire de génétique des maladies rares et auto-inflammatoires, hôpital Arnaud-de-Villeneuve, 34295 Montpellier, France.
authors.forename: I
authors.initials: I
authors.lastname: Touitou
authors.affiliation: Service de rhumatologie pédiatrique, centre de référence des maladies auto-inflammatoires, université de Paris-Sud, CHU de Bicêtre, AP-HP, 78, rue du Général-Leclerc, 94275 le Kremlin-Bicêtre cedex, France.
authors.forename: I
authors.initials: I
authors.lastname: Koné-Paut
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D054078:Mevalonate Kinase Deficiency / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D009154:Mutation; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase
keywords: Autoinflammatory syndrome; Déficit en mévalonate kinase; Hyper-IgD syndrome; Interleukine 1; Maladie métabolique; Metabolic disorder; Mevalonate aciduria; Mevalonate kinase deficiency; Syndrome auto-inflammatoire; Syndrome hyper-IgD