BibTex RIS Kaynak Göster

Hyperimmunoglobulin D Syndrome

Yıl 2013, Cilt: 22 Sayı: 1, 55 - 64, 01.03.2013

Öz

Hyperimmunoglobulin D syndrome is one of the autoinflammatory syndromes which are characterized by febrile attacks. Recently it is made possible to reach more reliable data by the possibilities that are opened up by molecular genetics to highlight the aetiopathogenesis of this group of diseases. Hyperimmunoglobulin D syndrome could present itself with a broad spectrum of symptoms. Although most of the Hyperimmunoglobulin D syndrome patients are reported from Europe and especially Dutch ancestry, case reports are presented from all over the world. Hyperimmunoglobulin D syndrome should be kept in mind for the differential diagnosis of periodic fever syndromes or before accepting an familial meditterinenan fever patient as colchichine-resistant.

Kaynakça

  • van der Meer JW, Vossen JM, Radl J, van Nieuwkoop JA, Meyer CJ, Lobatto S et al. Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. Lancet. 1984;1:1087-90. Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet. 1999; 22:178-81.
  • Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijn GJ et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobuliemia D and periodic fever syndrome. Nat Genet. 1999; 22:175-77.
  • Ammouri W, Cuisset L, Rouaghe S, Rolland MO, Delpech M, Grateau G et al. Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome. Rheumatology (Oxford) 2007;46:1597-600. van der Hilst JC, Bodar EJ, Barron KS, Frenkel J, Drenth JP, van der Meer JW et al. International HIDS Study Group. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine (Baltimore) 2008; 87:301-10. Simon A, Cuisset L, Franccoise-Vincent M, van Der Velde-Visser SD, Delpech M, van Der Meer JW et al. Molecular analysis of the mevalonate kinase gene in a cohort of patients with the Hyper-IgD and periodic fever syndrome: its application as a diagnostic tool. Ann Intern Med. 2001; 135:338
  • Prietsch V, Mayatepek E, Krastel H, Haas D, Zundel D, Waterham HR et al. Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. Pediatrics. 2003; 111:258-61.
  • Siewert R, Ferber J, Horstmann RD, Specker C, Heering PJ, Timmann C. Hereditary periodic fever with systemic amyloidosis: is hyper-IgD syndrome really a benign disease? Am J Kidney Dis 2006; 48:41Mandey SH, Schneiders MS, Koster J, Waterham HR. Mutational spectrum and genotypephenotype correlations in mevalonate kinase deficiency. Hum Mutat. 2006; 27:796-802.
  • Steichen O, van der Hilst J, Simon A, Cuisset L, Grateau G. A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever. J Rheumatol. 2009; 36:1677-81.
  • Drenth JP, Haagsma CJ, van der Meer JW. Hyperimmunoglobulinemia D and periodic fever syndrome: the clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. Medicine (Baltimore) 1994; 73:133-144.
  • Çelikel Acar B, Yalçınkaya F, Ekim M. Ailevi akdeniz ateşi patogenezi. Türkiye Klinikleri J Pediatr 2006; 15:151-5.

Hiperimmünglobülin D Sendromu

Yıl 2013, Cilt: 22 Sayı: 1, 55 - 64, 01.03.2013

Öz

Ateşli ataklar ile karakterize otoinflamatuvar sendromlar grubu hastalıklardan birisi de Hiperimmünglobülin D sendromu'dur. Moleküler genetiğin sağlamış olduğu olanaklar sayesinde, özellikle bu grup hastalıkların etiyopatogenezinin aydınlatılması kolaylaşmıştır. Hiperimmünglobülin D sendromu çok geniş yelpazeli klinik bulgularla seyredebilen bir hastalıktır. Her ne kadar Hiperimmünglobülin D sendromu tanılı hastaların çoğu Avrupa'dan ve özellikle de Felemenk ırktan olsalar da, pek çok farklı ülkeden bildirilmiş vakalar da vardır. Bu nedenle Hiperimmünglobülin D sendromu, periyodik ateş sendromlarının ayırıcı tanısında veya ailesel akdeniz ateşi hastalarını kolşisine dirençli kabul etmeden önce, akılda tutulması gereken bir hastalıktır.

Kaynakça

  • van der Meer JW, Vossen JM, Radl J, van Nieuwkoop JA, Meyer CJ, Lobatto S et al. Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. Lancet. 1984;1:1087-90. Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet. 1999; 22:178-81.
  • Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijn GJ et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobuliemia D and periodic fever syndrome. Nat Genet. 1999; 22:175-77.
  • Ammouri W, Cuisset L, Rouaghe S, Rolland MO, Delpech M, Grateau G et al. Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome. Rheumatology (Oxford) 2007;46:1597-600. van der Hilst JC, Bodar EJ, Barron KS, Frenkel J, Drenth JP, van der Meer JW et al. International HIDS Study Group. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine (Baltimore) 2008; 87:301-10. Simon A, Cuisset L, Franccoise-Vincent M, van Der Velde-Visser SD, Delpech M, van Der Meer JW et al. Molecular analysis of the mevalonate kinase gene in a cohort of patients with the Hyper-IgD and periodic fever syndrome: its application as a diagnostic tool. Ann Intern Med. 2001; 135:338
  • Prietsch V, Mayatepek E, Krastel H, Haas D, Zundel D, Waterham HR et al. Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. Pediatrics. 2003; 111:258-61.
  • Siewert R, Ferber J, Horstmann RD, Specker C, Heering PJ, Timmann C. Hereditary periodic fever with systemic amyloidosis: is hyper-IgD syndrome really a benign disease? Am J Kidney Dis 2006; 48:41Mandey SH, Schneiders MS, Koster J, Waterham HR. Mutational spectrum and genotypephenotype correlations in mevalonate kinase deficiency. Hum Mutat. 2006; 27:796-802.
  • Steichen O, van der Hilst J, Simon A, Cuisset L, Grateau G. A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever. J Rheumatol. 2009; 36:1677-81.
  • Drenth JP, Haagsma CJ, van der Meer JW. Hyperimmunoglobulinemia D and periodic fever syndrome: the clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. Medicine (Baltimore) 1994; 73:133-144.
  • Çelikel Acar B, Yalçınkaya F, Ekim M. Ailevi akdeniz ateşi patogenezi. Türkiye Klinikleri J Pediatr 2006; 15:151-5.
Toplam 8 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Derleme
Yazarlar

Didem Arslan Taş Bu kişi benim

Eren Erken Bu kişi benim

Yayımlanma Tarihi 1 Mart 2013
Yayımlandığı Sayı Yıl 2013 Cilt: 22 Sayı: 1

Kaynak Göster

AMA Taş DA, Erken E. Hiperimmünglobülin D Sendromu. aktd. Mart 2013;22(1):55-64.