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- Title
Homozigot Mevalonat Kinaz Geni Mutasyonu ile İlişkili Hiper IgD Sendromu: Olgu Sunumu.
- Authors
KILIÇ, Mehmet; GÜNBEY, Ömer; GÜNBEY, Fatma Betül; TAŞKIN, Erdal; ŞEN, Aşkın
- Abstract
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.
- Subjects
LYMPHADENITIS; FAMILIAL Mediterranean fever; PATENT foramen ovale; MEVALONATE kinase; EXANTHEMA; BLOOD sedimentation
- Publication
Firat Tip Dergisi, 2021, Vol 26, Issue 4, p259
- ISSN
1300-9818
- Publication type
Case Study