Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature
The hyperimmunoglobulinemia D syndrome (HIDS), so-called mevalonate kinase deficiency, is caused by recessive mutations in the gene encoding mevalonate kinase enzyme. HIDS is characterized by recurrent fever attacks of 3-7 days that begin in infancy and recur every 4-6 weeks. The febrile peri...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2012-12-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/1701 |
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| _version_ | 1850236860887990272 |
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| author | Pınar Gençpınar Balahan B Makay Marco Gattorno Francesco Caroli Erbil Ünsal |
| author_facet | Pınar Gençpınar Balahan B Makay Marco Gattorno Francesco Caroli Erbil Ünsal |
| author_sort | Pınar Gençpınar |
| collection | DOAJ |
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The hyperimmunoglobulinemia D syndrome (HIDS), so-called mevalonate kinase deficiency, is caused by recessive mutations in the gene encoding mevalonate kinase enzyme. HIDS is characterized by recurrent fever attacks of 3-7 days that begin in infancy and recur every 4-6 weeks. The febrile period is accompanied by lymphadenopathy, arthralgia, abdominal pain, diarrhea, aphthous ulcers, and varying degree of skin involvement. The course and severity of the disease may be quite different. There is no effective or proven therapy for HIDS. We report two cases with HIDS, which had separate clinical findings and treatment strategies.
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| format | Article |
| id | doaj-art-2e10ae955de4451687d31ae7ef48320d |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2012-12-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-2e10ae955de4451687d31ae7ef48320d2025-08-20T02:01:53ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212012-12-01546Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literaturePınar Gençpınar0Balahan B MakayMarco GattornoFrancesco CaroliErbil ÜnsalDepartment of Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey. erbil.unsal@deu.edu.tr. The hyperimmunoglobulinemia D syndrome (HIDS), so-called mevalonate kinase deficiency, is caused by recessive mutations in the gene encoding mevalonate kinase enzyme. HIDS is characterized by recurrent fever attacks of 3-7 days that begin in infancy and recur every 4-6 weeks. The febrile period is accompanied by lymphadenopathy, arthralgia, abdominal pain, diarrhea, aphthous ulcers, and varying degree of skin involvement. The course and severity of the disease may be quite different. There is no effective or proven therapy for HIDS. We report two cases with HIDS, which had separate clinical findings and treatment strategies. https://turkjpediatr.org/article/view/1701 |
| spellingShingle | Pınar Gençpınar Balahan B Makay Marco Gattorno Francesco Caroli Erbil Ünsal Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature The Turkish Journal of Pediatrics |
| title | Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature |
| title_full | Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature |
| title_fullStr | Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature |
| title_full_unstemmed | Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature |
| title_short | Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature |
| title_sort | mevalonate kinase deficiency hyper igd syndrome with periodic fever different faces with separate treatments two cases and review of the literature |
| url | https://turkjpediatr.org/article/view/1701 |
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