Hiperimmünglobülin D Sendromu

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.

Anahtar Kelimeler:

Hiperimmünglobulin D sendromu, periyodik ateş sendromları

Hyperimmunoglobulin D Syndrome

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.

Keywords:

Hyperimmunglobulin D syndrome, periodic fever syndromes,

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