Hyperimmunoglobulinemia D and periodic fever syndrome in children. Review on therapy with biological drugs and case report
| Autor: | M. E. van Gijn, K. Antila, M. Korppi |
|---|---|
| Rok vydání: | 2010 |
| Předmět: |
Abdominal pain
medicine.medical_specialty Anakinra Mevalonate kinase deficiency biology business.industry Hyper-IgD syndrome Mevalonate kinase Familial Mediterranean fever General Medicine medicine.disease Immunoglobulin D Gastroenterology Internal medicine Pediatrics Perinatology and Child Health Immunology medicine biology.protein medicine.symptom Periodic fever syndrome business medicine.drug |
| Zdroj: | Acta Paediatrica. 100:21-25 |
| ISSN: | 0803-5253 |
| DOI: | 10.1111/j.1651-2227.2010.01974.x |
| Popis: | Hyperimmunoglobulinemia D syndrome (HIDS) is a rare, autosomal recessively inherited autoinflammatory disease caused by mutations in the mevalonate kinase gene. HIDS usually starts in infancy with recurrent fever episodes lasting 3-7 days and recurring every 4-6 weeks, with only partial symptom decrease in adulthood. Fever is typically accompanied by abdominal pain, vomiting, diarrhoea and cervical lymphadenopathy, and sometimes by skin and joint symptoms. Blood leukocytes and serum C-reactive protein are elevated during the episode, and in addition, high levels of interleukine-1 (IL-1), IL-6 and tumour necrosis factor (TNF) and respective soluble receptors have been measured. Instead, serum immunoglobulin D (IgD) is usually normal until 3 years of age. Currently, there is no established treatment for HIDS. Thus far, four children have been successfully treated with etanercep, TNF-alpha inhibitor, and three children with anakinra, IL-1 receptor antagonist. Conclusion: This review summarizes currently available data on the use biological medicines for HIDS in children. A Finnish 1.5-year-old patient with disease onset at 6 months of age, treated successfully with anakinra, is presented. |
| Databáze: | OpenAIRE |
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