How to identify a patient with autoinflammatory syndrome: Clinical and diagnostic algorithms
Autoinflammatory syndromes (AISs) are a group of predominantly hereditary diseases associated with the spontaneous uncontrolled production of proinflammatory cytokines. Most diseases are known to have molecular mechanisms and an inheritance pattern. The paper describes major AISs, such as familial M...
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| Format: | Article |
| Language: | Russian |
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IMA-PRESS LLC
2013-10-01
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| Series: | Современная ревматология |
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| Online Access: | https://mrj.ima-press.net/mrj/article/view/490 |
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| author | Mikhail Mikhailovich Kostik L S Snegireva M F Dubko V V Masalova T S Likhacheva O V Kalashnikova V G Chasnyk |
| author_facet | Mikhail Mikhailovich Kostik L S Snegireva M F Dubko V V Masalova T S Likhacheva O V Kalashnikova V G Chasnyk |
| author_sort | Mikhail Mikhailovich Kostik |
| collection | DOAJ |
| description | Autoinflammatory syndromes (AISs) are a group of predominantly hereditary diseases associated with the spontaneous uncontrolled production of proinflammatory cytokines. Most diseases are known to have molecular mechanisms and an inheritance pattern. The paper describes major AISs, such as familial Mediterranean fever; cryopyrin-associated periodic syndrome (familial cold urticaria, Muckle – Wells syndrome, CINCA/NOMID syndrome); tumor necrosis factor-α receptor-associated periodic syndrome; hyperimmunoglobulinemia D syndrome; periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome. An inheritance pattern and molecular defects are characterized for each disease. The principles of diagnosis and therapy are described. The role of interleukin-1 blockers in the therapy of AIS is defined. The most important symptoms that can be used to detect the major forms of AIS are identified. The Gaslini score, a special formula using the clinical symptoms to identify patients at high risk for AIS who need genetic typing and those at low risk for AIS, is described. A clinical diagnostic algorithm is presented, which can be used to detect patients with AIS and to determine indications to and the time of molecular genetic typing, and to choose priority genes. |
| format | Article |
| id | doaj-art-9f95a68a8cc145f089c29f350e15c797 |
| institution | Kabale University |
| issn | 1996-7012 2310-158X |
| language | Russian |
| publishDate | 2013-10-01 |
| publisher | IMA-PRESS LLC |
| record_format | Article |
| series | Современная ревматология |
| spelling | doaj-art-9f95a68a8cc145f089c29f350e15c7972025-08-20T03:44:10ZrusIMA-PRESS LLCСовременная ревматология1996-70122310-158X2013-10-0173142010.14412/1996-7012-2013-51795How to identify a patient with autoinflammatory syndrome: Clinical and diagnostic algorithmsMikhail Mikhailovich Kostik0L S Snegireva1M F Dubko2V V Masalova3T S Likhacheva4O V Kalashnikova5V G Chasnyk6Saint Petersburg State Pediatric Medical University, Ministry of Health of RussiaSaint Petersburg State Pediatric Medical University, Ministry of Health of RussiaSaint Petersburg State Pediatric Medical University, Ministry of Health of RussiaSaint Petersburg State Pediatric Medical University, Ministry of Health of RussiaSaint Petersburg State Pediatric Medical University, Ministry of Health of RussiaSaint Petersburg State Pediatric Medical University, Ministry of Health of RussiaSaint Petersburg State Pediatric Medical University, Ministry of Health of RussiaAutoinflammatory syndromes (AISs) are a group of predominantly hereditary diseases associated with the spontaneous uncontrolled production of proinflammatory cytokines. Most diseases are known to have molecular mechanisms and an inheritance pattern. The paper describes major AISs, such as familial Mediterranean fever; cryopyrin-associated periodic syndrome (familial cold urticaria, Muckle – Wells syndrome, CINCA/NOMID syndrome); tumor necrosis factor-α receptor-associated periodic syndrome; hyperimmunoglobulinemia D syndrome; periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome. An inheritance pattern and molecular defects are characterized for each disease. The principles of diagnosis and therapy are described. The role of interleukin-1 blockers in the therapy of AIS is defined. The most important symptoms that can be used to detect the major forms of AIS are identified. The Gaslini score, a special formula using the clinical symptoms to identify patients at high risk for AIS who need genetic typing and those at low risk for AIS, is described. A clinical diagnostic algorithm is presented, which can be used to detect patients with AIS and to determine indications to and the time of molecular genetic typing, and to choose priority genes.https://mrj.ima-press.net/mrj/article/view/490autoinflammatory syndromesperiodic fevercryopyrin-associated periodic syndromeinterleukin-1interleukin-1 blockers |
| spellingShingle | Mikhail Mikhailovich Kostik L S Snegireva M F Dubko V V Masalova T S Likhacheva O V Kalashnikova V G Chasnyk How to identify a patient with autoinflammatory syndrome: Clinical and diagnostic algorithms Современная ревматология autoinflammatory syndromes periodic fever cryopyrin-associated periodic syndrome interleukin-1 interleukin-1 blockers |
| title | How to identify a patient with autoinflammatory syndrome: Clinical and diagnostic algorithms |
| title_full | How to identify a patient with autoinflammatory syndrome: Clinical and diagnostic algorithms |
| title_fullStr | How to identify a patient with autoinflammatory syndrome: Clinical and diagnostic algorithms |
| title_full_unstemmed | How to identify a patient with autoinflammatory syndrome: Clinical and diagnostic algorithms |
| title_short | How to identify a patient with autoinflammatory syndrome: Clinical and diagnostic algorithms |
| title_sort | how to identify a patient with autoinflammatory syndrome clinical and diagnostic algorithms |
| topic | autoinflammatory syndromes periodic fever cryopyrin-associated periodic syndrome interleukin-1 interleukin-1 blockers |
| url | https://mrj.ima-press.net/mrj/article/view/490 |
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