title: Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra.
abstract: BACKGROUND
  Mevalonate kinase deficiency is a metabolic autoinflammatory syndrome caused by mutations in the MVK gene, mevalonate kinase, the key enzyme in the non-sterol isoprenoid biosynthesis pathway. Two phenotypes of mevalonate kinase deficiency are known based on the level of enzymatic deficiency, mevalonic aciduria and hyperimmunoglobulinemia D syndrome, but a wide spectrum of intermediate phenotypes has been reported. Currently one of the most effective treatments is biological therapy (with interleukin-1 antagonist anakinra or tumour necrosis factor-α inhibitor etanercept).
  
  
  METHODS
  The patient in this case has a phenotype contributing to a severe disease that caused the symptoms to manifest very early, in the prenatal period. Mevalonate kinase deficiency was suspected on the basis of clinical (hydrops fetalis, hepatosplenomegaly, hypotonia) and laboratory signs (anaemia, intense acute phase reaction, increased urinary excretion of mevalonic acid). Mutation analysis of the MVK gene confirmed the biochemical diagnosis. Treatment with the interleukin-1 antagonist anakinra was started (minimal dose of 1 mg/kg/day) and revealed its efficacy after three days.
  
  
  CONCLUSIONS
  Our case highlights the need for a very detailed clinical and laboratory assessment in new-borns with any suggestion of autoinflammatory disorders. It is important that patients are diagnosed as early as possible to provide better multidisciplinary follow-up and therapy when needed.
authors.affiliation: Neonatology Centre of Vilnius University, Santariškių St. 7, Vilnius, Lithuania. skaiste.peciuliene@gmail.com.
authors.forename: Skaiste
authors.identifier: http://orcid.org/0000-0002-0735-6355
authors.initials: S
authors.lastname: Peciuliene
authors.affiliation: Neonatology Centre of Vilnius University, Santariškių St. 7, Vilnius, Lithuania.|Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
authors.forename: Birute
authors.initials: B
authors.lastname: Burnyte
authors.affiliation: Neonatology Centre of Vilnius University, Santariškių St. 7, Vilnius, Lithuania.
authors.forename: Rymanta
authors.initials: R
authors.lastname: Gudaitiene
authors.affiliation: Pediatrics Centre of Vilnius University, Vilnius, Lithuania.
authors.forename: Skirmante
authors.initials: S
authors.lastname: Rusoniene
authors.affiliation: Neonatology Centre of Vilnius University, Santariškių St. 7, Vilnius, Lithuania.
authors.forename: Nijole
authors.initials: N
authors.lastname: Drazdiene
authors.affiliation: Neonatology Centre of Vilnius University, Santariškių St. 7, Vilnius, Lithuania.
authors.forename: Arunas
authors.initials: A
authors.lastname: Liubsys
authors.affiliation: Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
authors.forename: Algirdas
authors.initials: A
authors.lastname: Utkus
mesh_terms: D000328:Adult; D018501:Antirheumatic Agents / Q000627:therapeutic use; D004247:DNA / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use*; D008297:Male; D054078:Mevalonate Kinase Deficiency / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D009154:Mutation; D018743:Perinatal Care / Q000379:methods*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics / Q000378:metabolism; D011247:Pregnancy; D016896:Treatment Outcome
chemical_list: D018501:Antirheumatic Agents; D053590:Interleukin 1 Receptor Antagonist Protein; D004247:DNA; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase
keywords: Autoinflammatory syndrome; Hyperimmunoglobulinemia D syndrome; IL-1 antagonist; Mevalonate kinase deficiency; Mevalonic aciduria