Familial Mediterranean fever (a periodic disease): The present-day view of the problem
The paper deals with the most common classical autoinflammatory disease familial Mediterra-nean fever (FMF)/periodic disease. This is a monogenic hereditary disease caused by mutations with an autosomal recessive pattern of inheritance. The most common types of mutations are given. Hyperactivation o...
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| Language: | Russian |
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2013-03-01
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| Series: | Современная ревматология |
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| Online Access: | https://mrj.ima-press.net/mrj/article/view/461 |
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| author | Evgeny Stanislavovich Fedorov S O Salugina N N Kuzmina |
| author_facet | Evgeny Stanislavovich Fedorov S O Salugina N N Kuzmina |
| author_sort | Evgeny Stanislavovich Fedorov |
| collection | DOAJ |
| description | The paper deals with the most common classical autoinflammatory disease familial Mediterra-nean fever (FMF)/periodic disease. This is a monogenic hereditary disease caused by mutations with an autosomal recessive pattern of inheritance. The most common types of mutations are given. Hyperactivation of innate (antigen-specific) immunity is a basic pathogenic mechanism of the disease and IL-1ß is a leading mediator. FMF prominently occurs in certain ethnic groups (Sephardic Jews, Armenians, Turks, and Arabs). In spite of the fact that there may be multiple organ failure, 12-72-hour febrile fever episodes accompanied by the symptoms of peritonitis and/or pleuropericarditis. AA amyloidosis is the most serious complication of FMF. Colchicine therapy is a basic treatment for preventing this complication. In case of colchicine inef-fi-cacy/intolerance, other agents, including genetically engineered biological drugs (IL-1ß inhibitors, etc.), may be used. |
| format | Article |
| id | doaj-art-b6741ea6a5f842149fc0ab90aeeba15e |
| institution | Kabale University |
| issn | 1996-7012 2310-158X |
| language | Russian |
| publishDate | 2013-03-01 |
| publisher | IMA-PRESS LLC |
| record_format | Article |
| series | Современная ревматология |
| spelling | doaj-art-b6741ea6a5f842149fc0ab90aeeba15e2025-08-20T03:59:57ZrusIMA-PRESS LLCСовременная ревматология1996-70122310-158X2013-03-0171243010.14412/1996-7012-2013-23631766Familial Mediterranean fever (a periodic disease): The present-day view of the problemEvgeny Stanislavovich FedorovS O SaluginaN N KuzminaThe paper deals with the most common classical autoinflammatory disease familial Mediterra-nean fever (FMF)/periodic disease. This is a monogenic hereditary disease caused by mutations with an autosomal recessive pattern of inheritance. The most common types of mutations are given. Hyperactivation of innate (antigen-specific) immunity is a basic pathogenic mechanism of the disease and IL-1ß is a leading mediator. FMF prominently occurs in certain ethnic groups (Sephardic Jews, Armenians, Turks, and Arabs). In spite of the fact that there may be multiple organ failure, 12-72-hour febrile fever episodes accompanied by the symptoms of peritonitis and/or pleuropericarditis. AA amyloidosis is the most serious complication of FMF. Colchicine therapy is a basic treatment for preventing this complication. In case of colchicine inef-fi-cacy/intolerance, other agents, including genetically engineered biological drugs (IL-1ß inhibitors, etc.), may be used.https://mrj.ima-press.net/mrj/article/view/461familial mediterranean feverautoinflammatory diseasemonogenic hereditary diseasescolchicine |
| spellingShingle | Evgeny Stanislavovich Fedorov S O Salugina N N Kuzmina Familial Mediterranean fever (a periodic disease): The present-day view of the problem Современная ревматология familial mediterranean fever autoinflammatory disease monogenic hereditary diseases colchicine |
| title | Familial Mediterranean fever (a periodic disease): The present-day view of the problem |
| title_full | Familial Mediterranean fever (a periodic disease): The present-day view of the problem |
| title_fullStr | Familial Mediterranean fever (a periodic disease): The present-day view of the problem |
| title_full_unstemmed | Familial Mediterranean fever (a periodic disease): The present-day view of the problem |
| title_short | Familial Mediterranean fever (a periodic disease): The present-day view of the problem |
| title_sort | familial mediterranean fever a periodic disease the present day view of the problem |
| topic | familial mediterranean fever autoinflammatory disease monogenic hereditary diseases colchicine |
| url | https://mrj.ima-press.net/mrj/article/view/461 |
| work_keys_str_mv | AT evgenystanislavovichfedorov familialmediterraneanfeveraperiodicdiseasethepresentdayviewoftheproblem AT sosalugina familialmediterraneanfeveraperiodicdiseasethepresentdayviewoftheproblem AT nnkuzmina familialmediterraneanfeveraperiodicdiseasethepresentdayviewoftheproblem |