Mehmet KILIÇ, Aşkın ŞEN, Ömer GÜNBEY, Fatma Betül GÜNBEY, Erdal TAŞKIN

Homozigot Mevalonat Kinaz Geni Mutasyonu ile İlişkili Hiper IgD Sendromu: Olgu Sunumu

Hiperimmünglobülin D sendromu tekrarlayan ateş atakları ile karakterize otozomal resesif geçişli bir otoinflamatuvar bozukluktur. Hastalık klinik olarak infantil dönemde başlayan tekrarlayan ateş atakları ile ortaya çıkmaktadır. Tipik olarak, periyodik ateş atakları ve eklem ağrısı, şişmiş lenf düğümleri, deri döküntüsü, baş ağrısı ve karın ağrısı gibi diğer semptomlarla karakterizedir. Bu olgu sunumunda, altı aylıktan itibaren başlayan, yaklaşık bir ay arayla tekrarlayan, ateş, aftöz ülserler, servikal lenfadenopati, bulantı, kusma, karın ağrısı, ishal atakları ile prezente olan 10 yaşında bir erkek hasta sunulmuştur. Hastanın atakları sırasında lökosit sayısı, eritrosit sedimentasyon hızı, C-reaktif protein ve fibrinojen düzeyleri yüksek olarak ölçüldü. Mevalonat kinaz gen analizinde 11. ekzonda homozigot c.1129G>A (p.V377I) (p.Val377Ile) mutasyonu tespit edildi. Ek olarak hastada patent foramen ovale ve Ailevi Akdeniz Ateşi hastalığı taşıyıcılığı saptandı. Hastaya anamnez, klinik ve laboratuvar bulguları ile hiperimmünglobülin D sendromu tanısı konuldu ve anti interlökin-1 (anakinra) tedavisi başlanması planlandı

Hyper IgD Syndrome Associated with Homozygous Mevalonate Kinase Gene Mutation: A Case Report

Hyperimmunoglobulin D syndrome is an autosomal recessively inherited autoinflammatory disorder characterized by recurring fever episodes. The disorder occurs by recurring fever episodes clinically starting in infantile period. Typically, it is characterized by periodic episodes of fever, and other symptoms such as joint pain, swollen lymph nodes, skin rash, headaches, and abdominal pain. In this case report, a 10-year-old boy patient who presented with fever, aphthous ulcers, cervical lymphadenopathy, nausea, vomiting, abdominal pain, and diarrhea attacks starting from the age of six months and recurring approximately every month is presented. The leukocyte number, erythrocyte sedimentation rate, levels of C-reactive protein and fibrinogen of the patient were measured as high during the attacks. In the analysis of the mevalonate kinase gene, a homozygous mutation on the 11th exon c.1129G>A (p.V377I) (P.Val377Ile) has been identified. Additionally, it has been identified that the patient is a carrier of familial mediterranean fever and patent foramen ovale. The patient was diagnosed with hyperimmunoglobulin D syndrome in accordance with the laboratory results and clinical findings and start of treatment with anti-interleukin-1 (anakinra) has been planned.

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