title: MEFV gene mutations in a patient with eosinophilic gastroenteritis.
abstract: Eosinophilic gastroenteritis (EG) is an uncommon gastrointestinal disease affecting both children and adults. The underlying molecular mechanism predisposing to the clinical manifestation of eosinophilic gastroenteritis is unknown. A 39-year-old man who was followed up with the diagnosis of familial Mediterranean fever (FMF) was admitted to our clinic with diarrhea, abdominal pain, and weight loss. After endoscopic and colonoscopic examinations EG was diagnosed by histopathological examination. Symptoms were resolved with the treatment of budesonide. To our knowledge, this is the first reported case of EG with the MEFV gene mutations in the literature.
authors.affiliation: Department of Nephrology, Ankara Education and Research Hospital, Ankara, Turkey. gulaykad@hotmail.com
authors.forename: Gulay
authors.initials: G
authors.lastname: Kocak
authors.forename: Erdem
authors.initials: E
authors.lastname: Kocak
authors.forename: Seref Rahmi
authors.initials: SR
authors.lastname: Yilmaz
authors.forename: Seyfettin
authors.initials: S
authors.lastname: Koklu
authors.forename: Murat
authors.initials: M
authors.lastname: Duranay
authors.forename: Funda
authors.initials: F
authors.lastname: Yalcin
authors.forename: Yildiz
authors.initials: Y
authors.lastname: Albayrak
mesh_terms: D015746:Abdominal Pain / Q000209:etiology; D000328:Adult; D002908:Chronic Disease; D003598:Cytoskeletal Proteins / Q000235:genetics*; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D003967:Diarrhea / Q000209:etiology; D004802:Eosinophilia / Q000175:diagnosis* / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000235:genetics; D005759:Gastroenteritis / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D000071198:Pyrin
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin