Kasamaki Keita, Kusano Chika, Ikehara Hisatomo, Suzuki Sho, Esaki Mitsuru, Irie Akira, Hayashi Kaori, Okuno Hiroaki, Moriyama Mitsuhiko, Gotoda Takuji
Division of Gastroenterology and Hepatology, Department of Medicine, Nihon University School of Medicine, Japan.
Intern Med. 2019;58(14):2025-2028. doi: 10.2169/internalmedicine.2293-18. Epub 2019 Jul 15.
A 37-year-old man developed abdominal pain and the frequency of severe abdominal pain steadily increased to once a month. He was therefore admitted to our hospital. Abdominal CT showed bowel obstruction. It revealed transient stenosis in the small intestine. There were no symptoms such as fever or weight loss, it seemed unlikely that the patient had inflammatory bowel disease. Considering the history of recurrent abdominal pain, Familial Mediterranean Fever (FMF) was considered. As a result, a genetic analysis revealed mutations in exons 3 and 8 of the MEFV gene. We herein report the first known case of FMF with transient small bowel stenosis in Japan.
一名37岁男性出现腹痛，严重腹痛的频率稳步增加至每月一次。因此，他被收治入院。腹部CT显示肠梗阻。结果发现小肠存在短暂性狭窄。患者没有发热或体重减轻等症状，似乎不太可能患有炎症性肠病。考虑到反复腹痛的病史，怀疑为家族性地中海热（FMF）。基因分析结果显示MEFV基因的外显子3和8发生了突变。在此，我们报告日本首例已知的伴有短暂性小肠狭窄的FMF病例。
