title: Hyperimmunoglobulinemia D and periodic fever syndrome in children. Review on therapy with biological drugs and case report.
abstract: Hyperimmunoglobulinemia D syndrome (HIDS) is a rare, autosomal recessively inherited autoinflammatory disease caused by mutations in the mevalonate kinase gene. HIDS usually starts in infancy with recurrent fever episodes lasting 3-7 days and recurring every 4-6 weeks, with only partial symptom decrease in adulthood. Fever is typically accompanied by abdominal pain, vomiting, diarrhoea and cervical lymphadenopathy, and sometimes by skin and joint symptoms. Blood leukocytes and serum C-reactive protein are elevated during the episode, and in addition, high levels of interleukine-1 (IL-1), IL-6 and tumour necrosis factor (TNF) and respective soluble receptors have been measured. Instead, serum immunoglobulin D (IgD) is usually normal until 3 years of age. Currently, there is no established treatment for HIDS. Thus far, four children have been successfully treated with etanercep, TNF-alpha inhibitor, and three children with anakinra, IL-1 receptor antagonist.
  
  
  CONCLUSIONS
  This review summarizes currently available data on the use biological medicines for HIDS in children. A Finnish 1.5-year-old patient with disease onset at 6 months of age, treated successfully with anakinra, is presented.
authors: Pediatric Research Centre, Tampere University and University Hospital, Finland. matti.korppi@uta.fi
authors: M
authors: M
authors: Korppi
authors: M E
authors: ME
authors: Van Gijn
authors: K
authors: K
authors: Antila
mesh_terms: D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D005260:Female; D005334:Fever / Q000188:drug therapy*; D006801:Humans; D007223:Infant; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use; D054078:Mevalonate Kinase Deficiency / Q000188:drug therapy*; D010507:Periodicity; D013577:Syndrome; D016896:Treatment Outcome
chemical_list: D000893:Anti-Inflammatory Agents; D053590:Interleukin 1 Receptor Antagonist Protein