MEFV gene mutations in a patient with eosinophilic gastroenteritis.
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.
Kocak
Gulay
G
Department of Nephrology, Ankara Education and Research Hospital, Ankara, Turkey. gulaykad@hotmail.com
Kocak
Erdem
E
Yilmaz
Seref Rahmi
SR
Koklu
Seyfettin
S
Duranay
Murat
M
Yalcin
Funda
F
Albayrak
Yildiz
Y
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
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin