Ariga Hiroyuki, Nakashima Maaya, Mikada Akiko, Hashimoto Etaro, Kashimura Junya
Department of Gastroenterology, Mito Kyodo General Hospital, Mito, JPN.
Department of General Medicine, Mito Kyodo General Hospital, Mito, JPN.
Cureus. 2024 Apr 3;16(4):e57566. doi: 10.7759/cureus.57566. eCollection 2024 Apr.
A 15-year-old male patient presented with recurrent fever. Three months prior, he experienced repeated fevers of 38°C, headaches, and malaise for three days. He experienced repeated fevers over 38°C for >72 hours two weeks prior to the current visit. A computed tomography scan showed enlarged lymph nodes around the ileum, suggesting familial Mediterranean fever (FMF) or inflammatory bowel disease. Endoscopic examination revealed a deformed Bauhin valve and inflammatory changes in the ileum, making inflammatory bowel disease unlikely. Thus, FMF was suspected, and after a thorough explanation, the patient was treated with colchicine, and his symptoms improved. Genetic testing revealed a mutation in the gene P369S-R408Q, and atypical FMF was diagnosed.
一名15岁男性患者出现反复发热症状。三个月前，他曾经历三天体温达38°C的反复发热、头痛及全身不适。在本次就诊前两周，他又出现体温超过38°C的反复发热，持续超过72小时。计算机断层扫描显示回肠周围淋巴结肿大，提示可能为家族性地中海热（FMF）或炎症性肠病。内镜检查发现回盲瓣变形及回肠有炎症改变，使炎症性肠病的可能性降低。因此，怀疑为FMF，在向患者充分解释后，给予秋水仙碱治疗，其症状有所改善。基因检测发现P369S-R408Q基因存在突变，确诊为非典型FMF。
