A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency

Joint Bone Spine

Volumn 82, Issue 4, 2015, Pages 240-244

  Berody, Sandra ^a   Galeotti, Caroline ^a   Koné Paut, Isabelle ^a,b   Piram, Maryam ^a,b,c  

^a BICÊTRE HOSPITAL   (France)

^b UNIVERSITÉ PARIS SACLAY   (France)

^c CENTRE FOR RESEARCH IN EPIDEMIOLOGY AND POPULATION HEALTH   (France)

Author keywords

Auto inflammatory disease; Diagnosis; Disease burden; Hyper IgD syndrome; Mevalonate kinase deficiency

Indexed keywords

ANTIBIOTIC AGENT; AZATHIOPRINE; CORTICOSTEROID; CYCLOPHOSPHAMIDE; CYCLOSPORIN; HYDROXYCHLOROQUINE; IMMUNOGLOBULIN; IMMUNOSUPPRESSIVE AGENT; INFLIXIMAB; METHOTREXATE; MEVALONATE KINASE; NONSTEROID ANTIINFLAMMATORY AGENT; IMMUNOGLOBULIN D; PHOSPHOTRANSFERASE;

ADENITIS SYNDROME; ADULT; APHTHOUS STOMATITIS; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; CONNECTIVE TISSUE DISEASE; DELAYED DIAGNOSIS; DIAGNOSTIC ERROR; DISEASE COURSE; FEMALE; GASTRITIS; GENE MUTATION; HEREDITARY PERIODIC FEVER; HOSPITALIZATION; HUMAN; IMMUNE DEFICIENCY; INFECTION; INFLAMMATORY BOWEL DISEASE; LYMPHADENITIS; MALE; MEDICAL HISTORY; MEVALONATE KINASE DEFICIENCY; MIDDLE AGED; ONSET AGE; PATIENT REFERRAL; PEDIATRICIAN; PHARYNGITIS; QUALITY OF LIFE; QUESTIONNAIRE; RECURRENT FEVER; RETROSPECTIVE STUDY; RHEUMATOLOGY; SCHOOL CHILD; SYMPTOM; SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS; VASCULITIS; YOUNG ADULT; ADOLESCENT; BLOOD; CLINICAL TRIAL; DIFFERENTIAL DIAGNOSIS; DNA MUTATIONAL ANALYSIS; GENETICS; METABOLISM; MULTICENTER STUDY; MUTATION;

ADOLESCENT; ADULT; CHILD; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; IMMUNOGLOBULIN D; MALE; MEVALONATE KINASE DEFICIENCY; MUTATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); REFERRAL AND CONSULTATION; RETROSPECTIVE STUDIES; SURVEYS AND QUESTIONNAIRES; YOUNG ADULT;

EID: 84937512892     PISSN: 1297319X     EISSN: 17787254     Source Type: Journal    
DOI: 10.1016/j.jbspin.2014.12.011     Document Type: Article

References (20)

1. Houten S.M., Wanders R.J., Waterham H.R. Biochemical and genetic aspects of mevalonate kinase and its deficiency. Biochim Biophys Acta 2000, 1529:19-32.
2. Tsimaratos M., Kone-Paut I., Divry P., et al. Mevalonic aciduria and hyper-IgD syndrome: two sides of the same coin?. J Inherit Metab Dis 2001, 24:413-414.
3. Steichen O., van der Hilst J., Simon A., et al. A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever. J Rheumatol 2009, 36:1677-1681.
4. Tsimaratos M., Koné-Paut I., Daniel L., et al. Crescentic glomerulonephritis in hyper IgD syndrome. Pediatr Nephrol Berl Ger 1999, 13:132-134.
5. Grouteau E., Chaix Y., Graber D., et al. [Pseudo-periodic disease with hyperimmunoglobulinemia D: a never-ending story with probable prenatal onset]. Arch Pediatrie 1998, 5:280-284.
6. Galeotti C., Meinzer U., Quartier P., et al. Efficacy of interleukin-1-targeting drugs in mevalonate kinase deficiency. Rheumatol Oxf Engl 2012, 51:1855-1859.
7. Bader-Meunier B., Florkin B., Sibilia J., et al. Mevalonate kinase deficiency: a survey of 50 patients. Pediatrics 2011, 128:e152-e159.
8. Cailliez M., Garaix F., Rousset-Rouvière C., et al. Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis. J Inherit Metab Dis 2006, 29:763.
9. D'Osualdo A., Picco P., Caroli F., et al. MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. Eur J Hum Genet 2005, 13:314-320.
10. Van der Meer J.W., Vossen J.M., Radl J., et al. and periodic fever: a new syndrome. Lancet 1984, 1:1087-1090.
11. Houten S.M., Kuis W., Duran M., et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 1999, 22:175-177.
12. Piram M., Frenkel J., Gattorno M., et al. A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-Inflammatory Diseases Activity Index) Consensus Conference. Ann Rheum Dis 2011, 70:309-314.
13. Van der Hilst J.C.H., Frenkel J. Hyperimmunoglobulin D syndrome in childhood. Curr Rheumatol Rep 2010, 12:101-107.
14. Ruiz Gomez A., Couce M.L., Garcia-Villoria J., et al. Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency. Pediatrics 2012, 129:e535-e539.
15. Drenth J.P., Haagsma C.J., van der Meer J.W., et al. Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. Medicine 1994, 73:133-144.
16. Van der Hilst J.C.H., Bodar E.J., Barron K.S., et al. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine 2008, 87:301-310.
17. Thors V.S., Vastert S.J., Wulffraat N., et al. Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease. Pediatrics 2014, 133:e461-e465.
18. Farber C.M., Wanders J.A.W., Goffard J.C., et al. A woman with recurrent "infections" since birth-a new mevalonate kinase mutation. Acta Clin Belg 2011, 66:129-131.
19. Obici L., Manno C., Muda A.O., et al. First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome. Arthritis Rheum 2004, 50:2966-2969.
20. Rigante D., Capoluongo E., Bertoni B., et al. First report of macrophage activation syndrome in hyperimmunoglobulinemia D with periodic fever syndrome. Arthritis Rheum 2007, 56:658-661.