Familial Mediterranean Fever: Diagnosing as Early as 3 Months of Age
Familial Mediterranean Fever is an autosomal recessive disease. Major symptoms of disease are recurrent fever accompanied by serositis attacks. The disease is usually diagnosed before 20 years of age. Symptoms related to FMF are noted when children become more verbal, usually after 2 years of age. I...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2014/296479 |
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| author | Gonca Keskindemirci Nuray Aktay Ayaz Esin Aldemir Çiğdem Aydoğmuş Gönül Aydoğan Sultan Kavuncuoğlu |
| author_facet | Gonca Keskindemirci Nuray Aktay Ayaz Esin Aldemir Çiğdem Aydoğmuş Gönül Aydoğan Sultan Kavuncuoğlu |
| author_sort | Gonca Keskindemirci |
| collection | DOAJ |
| description | Familial Mediterranean Fever is an autosomal recessive disease. Major symptoms of disease are recurrent fever accompanied by serositis attacks. The disease is usually diagnosed before 20 years of age. Symptoms related to FMF are noted when children become more verbal, usually after 2 years of age. In this case report, the youngest patient with the diagnosis of FMF is presented. She was consulted to pediatric rheumatology for the high acute phase response and fever. It was learned that her mother had recurrent swelling of her ankle joints. Mutation analysis was performed and two homozygous mutations (M694V and R202Q) were identified. She was diagnosed as FMF at 3 months of age and colchicine was started. She responded to colchicine. Her uncontrolled acute phase response declined gradually. This case was reported to point out the importance of early remembrance of autoinflammatory diseases even at very early ages especially at endemic countries. |
| format | Article |
| id | doaj-art-14325301cce14301a179466fc2074413 |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-14325301cce14301a179466fc20744132025-02-03T05:58:54ZengWileyCase Reports in Pediatrics2090-68032090-68112014-01-01201410.1155/2014/296479296479Familial Mediterranean Fever: Diagnosing as Early as 3 Months of AgeGonca Keskindemirci0Nuray Aktay Ayaz1Esin Aldemir2Çiğdem Aydoğmuş3Gönül Aydoğan4Sultan Kavuncuoğlu5İstanbul Kanuni Sultan Süleyman Educational and Research Hospital, 34303 İstanbul, Turkeyİstanbul Kanuni Sultan Süleyman Educational and Research Hospital, 34303 İstanbul, Turkeyİstanbul Kanuni Sultan Süleyman Educational and Research Hospital, 34303 İstanbul, Turkeyİstanbul Kanuni Sultan Süleyman Educational and Research Hospital, 34303 İstanbul, Turkeyİstanbul Kanuni Sultan Süleyman Educational and Research Hospital, 34303 İstanbul, Turkeyİstanbul Kanuni Sultan Süleyman Educational and Research Hospital, 34303 İstanbul, TurkeyFamilial Mediterranean Fever is an autosomal recessive disease. Major symptoms of disease are recurrent fever accompanied by serositis attacks. The disease is usually diagnosed before 20 years of age. Symptoms related to FMF are noted when children become more verbal, usually after 2 years of age. In this case report, the youngest patient with the diagnosis of FMF is presented. She was consulted to pediatric rheumatology for the high acute phase response and fever. It was learned that her mother had recurrent swelling of her ankle joints. Mutation analysis was performed and two homozygous mutations (M694V and R202Q) were identified. She was diagnosed as FMF at 3 months of age and colchicine was started. She responded to colchicine. Her uncontrolled acute phase response declined gradually. This case was reported to point out the importance of early remembrance of autoinflammatory diseases even at very early ages especially at endemic countries.http://dx.doi.org/10.1155/2014/296479 |
| spellingShingle | Gonca Keskindemirci Nuray Aktay Ayaz Esin Aldemir Çiğdem Aydoğmuş Gönül Aydoğan Sultan Kavuncuoğlu Familial Mediterranean Fever: Diagnosing as Early as 3 Months of Age Case Reports in Pediatrics |
| title | Familial Mediterranean Fever: Diagnosing as Early as 3 Months of Age |
| title_full | Familial Mediterranean Fever: Diagnosing as Early as 3 Months of Age |
| title_fullStr | Familial Mediterranean Fever: Diagnosing as Early as 3 Months of Age |
| title_full_unstemmed | Familial Mediterranean Fever: Diagnosing as Early as 3 Months of Age |
| title_short | Familial Mediterranean Fever: Diagnosing as Early as 3 Months of Age |
| title_sort | familial mediterranean fever diagnosing as early as 3 months of age |
| url | http://dx.doi.org/10.1155/2014/296479 |
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