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Modern Rheumatology Volume 29, 2019 - Issue 1
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Original Article

National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics

Takayuki TanakaDepartment of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan; View further author information
,
Kohei YoshiokaDepartment of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan; View further author information
,
Ryuta NishikomoriDepartment of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan; Correspondence[email protected]
View further author information
,
Hidemasa SakaiDepartment of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan; View further author information
,
Junya AbeDepartment of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan; ;Department of Pediatrics, Kitano Hospital, Tazuke Kofukai Medical Research Institute, Osaka, Japan; View further author information
,
Yuriko YamashitaDepartment of Pediatrics, Matsudo City General Hospital Children’s Medical Centre, Matsudo, Japan; View further author information
,
Ryugo HiramotoDepartment of Pediatrics, Matsudo City General Hospital Children’s Medical Centre, Matsudo, Japan; View further author information
,
Akira MorimotoDepartment of Pediatrics, Jichi Medical University of School of Medicine, Shimotsuke, Japan; View further author information
,
Eiichi IshiiDepartment of Pediatrics, Ehime University Graduate School of Medicine, Toon, Japan; View further author information
,
Hirokazu ArakawaDepartment of Pediatrics, Gumma University Graduate School of Medicine, Maebashi, Japan; View further author information
,
Utako KanekoDepartment of Pediatrics, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan; View further author information
,
Yusei OhshimaDepartment of Pediatrics, Faculty of Medical Sciences, University of Fukui, Fukui, Japan; View further author information
,
Nami OkamotoDepartment of Pediatrics, Osaka Medical College, Takatsuki, Japan; View further author information
,
Osamu OharaDepartment of Technology, Kazusa DNA Research Institute, Chiba, JapanView further author information
,
Ikue HataDepartment of Pediatrics, Faculty of Medical Sciences, University of Fukui, Fukui, Japan; View further author information
,
Yosuke ShigematsuDepartment of Pediatrics, Faculty of Medical Sciences, University of Fukui, Fukui, Japan; View further author information
,
Tomoki KawaiDepartment of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan; View further author information
,
Takahiro YasumiDepartment of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan; View further author information
&
Toshio HeikeDepartment of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan; View further author information
 show all
Pages 181-187 | Received 07 Jun 2017, Accepted 05 Feb 2018, Published online: 02 Mar 2018

References

  • van der Burgh R, Ter Haar NM, Boes ML, Frenkel J. Mevalonate kinase deficiency, a metabolic autoinflammatory disease. Clin Immunol. 2013;147(3):197–206.
  • Bader-Meunier B, Florkin B, Sibilia J, Acquaviva C, Hachulla E, Grateau G, et al. Mevalonate kinase deficiency: a survey of 50 patients. Pediatrics. 2011;128(1):e152–9.
  • Mandey SH, Kuijk LM, Frenkel J, Waterham HR. A role for geranylgeranylation in interleukin-1beta secretion. Arthritis Rheum. 2006;54(11):3690–5.
  • Akula MK, Shi M, Jiang Z, Foster CE, Miao D, Li AS, et al. Control of the innate immune response by the mevalonate pathway. Nat Immunol. 2016;17(8):922–9.
  • Ter Haar N, Lachmann H, Özen S, Woo P, Uziel Y, Modesto C, et al. Treatment of autoinflammatory diseases: results from the Eurofever registry and a literature review. Ann Rheum Dis. 2013;72(5):678–85.
  • Ter Haar NM, Jeyaratnam J, Lachmann HJ, Simon A, Brogan PA, Doglio M, et al. The phenotype and genotype of mevalonate kinase deficiency: a series of 114 cases from the Eurofever registry. Arthritis Rheumatol. 2016;68(11):2795–2805.
  • van der Hilst JC, Bodar EJ, Barron KS, Frenkel J, Drenth JP, van der Meer JW, et al. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine (Baltimore). 2008;87(6):301–10.
  • Naruto T, Nakagishi Y, Mori M, Miyamae T, Imagawa T, Yokota S. Hyper-IgD syndrome with novel mutation in a Japanese girl. Mod Rheumatol. 2009;19(1):96–9.
  • Tahara M, Sakai H, Nishikomori R, Yasumi T, Heike T, Nagata I, et al. Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation. Mod Rheumatol. 2011;21(6):641–5.
  • Mizuno T, Sakai H, Nishikomori R, Oshima K, Ohara O, Hata I, et al. Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndrome. Rheumatol Int. 2012;32(12):3761–4.
  • Gibson KM, Lohr JL, Broock RL, Hoffmann G, Nyhan WL, Sweetman L, et al. Mevalonate kinase in lysates of cultured human fibroblasts and lymphoblasts: kinetic properties, assay conditions, carrier detection and measurement of residual activity in a patient with mevalonic aciduria. Enzyme. 1989;41(1):47–55.
  • Siavoshian S, Simoneau C, Maugeais P, Marks L, Rodary L, Gardette J, et al. Measurement of mevalonic acid in human urine by bench top gas chromatography-mass spectrometry. Clin Chim Acta. 1995;243(2):129–36.
  • Nakashimai H, Miyake F, Ohki S, Hattori S, Matsubayashi T, Izawa K, et al. Febrile attacks triggered by milk allergy in an infant with mevalonate kinase deficiency. Rheumatol Int. 2016;36(10):1477–8.
  • Henter JI, Horne A, Aricó M, Egeler RM, Filipovich AH, Imashuku S, et al. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48(2):124–31.
  • Maruyama A, Takahashi N, Gunji Y, Morimoto A, Yada Y, Koike Y, et al. Congenital hemophagocytic lymphohistiocytosis in a preterm infant: cytokine profile and a review of the disease. J Pediatr Hematol Oncol. 2011;33(5):e209–12.
  • Ammouri W, Cuisset L, Rouaghe S, Rolland MO, Delpech M, Grateau G, et al. Diagnostic value of serum immunoglobulin D level in patients with a clinical suspicion of hyper IgD syndrome. Rheumatology (Oxford). 2007;46(10):1597–600.
  • Munoz MA, Jurczyluk J, Mehr S, Chai RC, Arts RJW, Sheu A, et al. Defective protein prenylation is a diagnostic biomarker of mevalonate kinase deficiency. J Allergy Clin Immunol. 2017;140(3):873–875.
  • Steiner LA, Ehrenkranz RA, Peterec SM, Steiner RD, Reyes-Múgica M, Gallagher PG. Perinatal onset mevalonate kinase deficiency. Pediatr Dev Pathol. 2011;14(4):301–6.
  • Chaudhury S, Hormaza L, Mohammad S, Lokar J, Ekong U, Alonso EM, et al. Liver transplantation followed by allogeneic hematopoietic stem cell transplantation for atypical mevalonic aciduria. Am J Transplant. 2012;12(6):1627–31.
  • Rigante D, Capoluongo E, Bertoni B, Ansuini V, Chiaretti A, Piastra M, et al. First report of macrophage activation syndrome in hyperimmunoglobulinemia D with periodic fever syndrome. Arthritis Rheum. 2007;56(2):658–61.
  • Schulert GS, Bove K, McMasters R, Campbell K, Leslie N, Grom AA. 11-month-old infant with periodic fevers, recurrent liver dysfunction, and perforin gene polymorphism. Arthritis Care Res (Hoboken). 2015;67(8):1173–9.
  • Benedetti FD, Anton J, Gattorno M, Lachmann H, Kone-Paut I, Ozen S, et al. A phase III pivotal umbrella trial of canakinumab in patients with autoinflammatory periodic fever syndromes (colchicine resistant FMF, HIDS/MKD and TRAPS). Ann Rheum Dis. 2016;75(l2):615–16.

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