Hyperimmunoglobulin D Syndrome Case Report
Yazarlar (7)
Hacer Şen Çanakkale Onsekiz Mart Üniversitesi, Türkiye
Fatma Sılan Çanakkale Onsekiz Mart Üniversitesi, Türkiye
Emine Binnetoğlu Çanakkale Onsekiz Mart Üniversitesi, Türkiye
Fahri Güneş Çanakkale Onsekiz Mart Üniversitesi, Türkiye
Akurut Çisem
Türkiye
Türkiye
Ahmet Uludağ Çanakkale Onsekiz Mart Üniversitesi, Türkiye
Prof. Dr. Öztürk ÖZDEMİR Çanakkale Onsekiz Mart Üniversitesi, Türkiye
| Makale Türü |
Özgün Makale
(SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale)
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| Dergi Adı | Archives of Rheumatology | ||
| Dergi ISSN | 2148-5046 | ||
| Dergi Tarandığı Indeksler | SCI-Expanded | ||
| Makale Dili | İngilizce | Basım Tarihi | 08-2015 |
| Cilt / Sayı / Sayfa | 30 / 3 / 244–246 | DOI | 10.5606/ArchRheumatol.2015.4986 |
| Makale Linki | http://www.archivesofrheumatology.org/full-text/714 | ||
| Özet |
| Hyperimmunoglobulin D syndrome is a rare autosomal recessive inherited disease characterized by fever attacks, which may be accompanied by chills, headache, abdominal pain, and cervical lymphadenopathy. Typical hyperimmunoglobulin D syndrome patients start to show symptoms in the first years of life. Diagnosis is based on the presence of symptoms with reduction in the enzyme activity of mevalonate kinase or by detecting the mutation in the mevalonate kinase gene that causes the disease. In this article, we present a 21-year-old female patient who started having fever attacks in early childhood and was diagnosed with familial Mediterranean fever; however, in spite of treatment, whose complaints did not resolve. The genetic analysis, which detected homozygote mevalonate kinase gene mutation and resulted in the hyperimmunoglobulin D syndrome diagnosis, is presented with an accompanying discussion of the literature. |
| Anahtar Kelimeler |
BM Sürdürülebilir Kalkınma Amaçları
| Atıf Sayıları | |
| TRDizin | 2 |