PERIODIC FEVER SYNDROME (MEVALONATE KINASE DEFICIENCY, HYPERIMMUNOGLOBULINEMIA D SYNDROME) IN CHILDREN
https://doi.org/10.15690/vsp.v11i2.227
Abstract
Periodic fever syndrome with mevalonate kinase deficiency, also known as hyperimmunoglobulinemia D syndrome, is characterized by early onset and relatively benign course. The article contains a history case of periodic fever syndrome with mevalonate kinase deficiency in a 2-years-9-months old girl. The challenges of differential diagnostics of this disease are accentuated in the article.
About the Authors
Yu. S. Patrusheva
Scientific Centre of Children Health RAMS, Moscow
Russian Federation
Russian Federation
M. D. Bakradze
Scientific Centre of Children Health RAMS, Moscow;
I.M. Sechenov First Moscow State Medical University
Russian Federation
Maiya Dzhemalovna Bakradze, PhD, Head of the Department of Diagnosis and Remedial Treatment of SCCH of RAMS
Russian Federation
Maiya Dzhemalovna Bakradze, PhD, Head of the Department of Diagnosis and Remedial Treatment of SCCH of RAMS
References
1. Лихорадочные синдромы у детей / под ред. А. А. Баранова, В. К. Таточенко, М. Д. Бакрадзе. М.: Союз педиатров России. 2011.
2. Meer J. W., Vossen J. M., Radl J. et al. Hyperimmunoglobulinemia D and fever: a new syndrome. Lancet. 1984; 1: 1087–1090.
3. Korppi M., Van Gijn M. E., Antila K. Hyperimmunoglobuline mia D and periodic fever syndrome in children. Review on therapy with biological drugs and case report. Acta Paediatr. 2011; 100 (1): 21–25.
4. Lachmann H. J. Clinical immunology review series: An approach to the patient with a periodic fever syndrome. Clin. Exp. Immunol. 2011; 165 (3): 301–309.
5. Кузьмина Н. Н., Федоров Е. С., Мовсисян Г. Р. и соавт. Совре- менный взгляд на вопросы диагностики и лечения аутовоспалительных заболеваний у детей. Лечащий врач. 2008; 28–34.
6. Calvo Rey C., Soler-Palacin P., Merino Munoz R. Consensus Document on the differential diagnosis and therapeutic approach to recurrent fever by the Paediatric Infectology Society and the Paediatric Rheumatology Society. Sociedad de Infectologia Pediatrica; Sociedad de Reumatologia Pediatrica. An Pediatr. 2011; 74 (3): 194.
7. Ben-Zvi I., Livneh A. Chronic inflammation in FMF: markers, risk factors, outcomes and therapy. Nat Rev Rheumatol. 2011; 7: 105–112.
8. Simon A., Bijzet J., Voorbij H. A. et. аl. Effect of inflammatory attacks in the classical type hyper-IgD syndrome on immunoglobulin D, cholesterol and parameters of the acute phase response. J. Intern. Med. 2004; 256 (3): 247–253.
9. Di Rocco M., Caruso U., Waterham H. R. et al. Mevalonate kinase deficiency in a child with periodic fever and without hyperglobulinaemia D. J. Inherit. Met. Dis. 2001; 24: 411–412.
10. Franck T. S. Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) in a child with normal serum IgD, but increased serum IgA concentration. J. Pediatr. 2003; 143: 127–129.
11. Prietsch V., Mayatepek E., Krastel H. Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. Pediatrics. 2003; 111 (2): 258–261.
12. Simon A., Bijzet J., Voorbij H. A. Effect of inflammatory attacks in the classical type hyper-IgD syndrome on immunoglobulin D, cholesterol and parameters of the acute phase response. J. Intern. Med. 2004; 256 (3): 247–253.
13. 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 (2): 175–177.
14. Drenth J. P. H., Cuisset L., Grateau G. et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. Nat Genet. 1999; 22: 178–181.
15. Schafer, B. L. et al. Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria. J. Biol. Chem. 1992; 267: 13229–13238.
16. Hinson D. D. et al. Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency. J. Biol. Chem. 1997; 272: 26756–26760.
17. Cuisset L., Drenth J. P., Simon A. et al. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur. J. Hum. Genet. 2001; 9: 260–266.
18. Haas D., Hoffmann G. F. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet. J. Rare Dis. 2006: 13.
19. Simon A., Drewe E., van der Meer J. W. et al. Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clin. Pharmacol. Ther. 2004; 75: 476–483.
20. Rigante D. Autoinflammatory syndromes behind the scenes of recurrent fevers in children. Med. Sci. Monit. 2009; 15 (8): 179–187.
21. Tak P. P., Visser L. G., Hoogkamp-Korstanje J. A. Unusual manifestations of Yersinia enterocolitica infections diagnosed using novel methods. Clin. Infect. Dis. 1992; 15 (4): 645–649.
22. Bliddal J., Kaliszan S. Prolonged monosymptomatic fever due to Yersinia enterocolitica. Acta. Med. Scand. 1977; 201 (4): 387–389.
23. Perales Palacios I., Orive Olondriz B., Michaus Oquinena L. Yersinia enterocolitica as a cause of fever of unknown origin. An Esp. Pediatr. 1982; 17 (3): 259–262.
24. Antonio-Santiago M. T., Kaul A., Lue Y. Yersinia enterocolitica septicemia in an infant presenting as fever of unknown origin. Clin Pediatr (Phila). 1986; 25 (4): 213.
25. John C. C., Gilsdorf J. R. Recurrent fever in children. Pediatr Infect. Dis. J. 2002; 21 (11): 1071–1077.
26. Savic S., Wood P. Does this patient have periodic fever syndrome? Clin. Med. 2011; 11 (4): 396–401.
27. URL: http://www.hids.net
Review
For citations:
Patrusheva Yu.S., Bakradze M.D. PERIODIC FEVER SYNDROME (MEVALONATE KINASE DEFICIENCY, HYPERIMMUNOGLOBULINEMIA D SYNDROME) IN CHILDREN. Current Pediatrics. 2012;11(2):140-145. (In Russ.) https://doi.org/10.15690/vsp.v11i2.227
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