Bloody Diarrhea as a Presentation Manifestation of Familial Mediterranean Fever in a Patient with Compound Heterozygote Mutations of the MEFV Gene
| Autor: | Nooshin Sadjadei, Gholam Hossein Fallahi, Nima Rezaei |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
Pediatrics
medicine.medical_specialty Hepatology business.industry Gastroenterology Familial Mediterranean fever Bloody diarrhea MEFV Compound heterozygosity medicine.disease Brief Communication Dermatology chemistry.chemical_compound chemistry Episodic fever MEFV gene mutation medicine Colchicine Presentation (obstetrics) business Gene |
| Zdroj: | Gut and Liver |
| ISSN: | 2005-1212 1976-2283 |
| Popis: | Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by episodic fever and inflammatory polyserositis, which could lead to a variety of manifestations, including recurrent abdominal pain. Herein, a 12-year-old boy who has suffered from fever and bloody diarrhea since early childhood is described. All structural and underlying disorders leading to bleeding were excluded. Genetic studies indicated compound heterozygote mutations of M680I/R761H in the MEFV gene, which confirmed the diagnosis of FMF. Therefore, treatment with colchicine was started, which led to symptom relief. As gastrointestinal manifestations appear to be the main features of FMF, bloody diarrhea could also be considered an initial symptom of FMF. |
| Databáze: | OpenAIRE |
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