Japanese Society of Internal Medicine
| Autor: | Keita Inoue, Kiyoshi Migita, Seiko Nakamichi, Koichiro Kadota, Atsushi Kawakami, Aya Yoda, Tomoya Nishino, Kazuhiro Torii, Yoko Obata, Yoshiyuki Ozono |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
Heterozygote
Abdominal pain medicine.medical_specialty Pediatrics MEFV gene Treatment outcome Familial Mediterranean fever Colchicine treatment Internal Medicine medicine Humans In patient Age of Onset Aged Febrile episodes business.industry General Medicine Pyrin medicine.disease MEFV Surgery Cytoskeletal Proteins Treatment Outcome Mutation Etiology Familial mediterranean fever Female medicine.symptom Age of onset Colchicine business |
| Zdroj: | Internal Medicine. 51:2649-2653 |
| ISSN: | 1349-7235 0918-2918 |
| DOI: | 10.2169/internalmedicine.51.6846 |
| Popis: | The patient was a 68-year-old woman who had experienced recurrent febrile episodes since 66 years of age. Despite various examinations and treatments, the etiology remained unclear. Further examinations following another referral failed to uncover the cause. Therefore, despite her age, it was presumed that she had familial Mediterranean fever. An analysis of the familial Mediterranean fever (MEFV) gene detected heterozygous L110P, E148Q, and R202Q mutations. No further febrile episodes occurred after colchicine treatment was initiated. Familial Mediterranean fever presenting in patients in their sixties is extremely rare. Internal Medicine, 51(18), pp.2649-2653; 2012 |
| Databáze: | OpenAIRE |
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