Baran Maşallah, Çağan Appak Yeliz, Garipcin Pınar, Demirçelik Yavuz, Pala Emel Ebru, Özyilmaz Berk, Karakoyun Miray, Ergün Orkan
Department of Pediatric Gastroenterology, Hepatology and Nutrition, İzmir Katip Çelebi University School of Medicine, İzmir, Turkey.
Department of Pediatric Gastroenterology, Hepatology and Nutrition, Tepecik Training and Research Hospital, İzmir, Turkey.
Arch Rheumatol. 2018 Mar 23;33(4):473-477. doi: 10.5606/ArchRheumatol.2018.6741. eCollection 2018 Dec.
Symptoms of infantile inflammatory bowel disease (I-IBD) can be life-threatening and associated with poor prognosis. The presence of Mediterranean fever (MEFV) gene mutations play an important role in treatment of I-IBD. In this article, we describe a case of I-IBD with a resistant fistula, in which remission occurred following colchicine therapy. The patient was a six-month-girl with complaints of bloody diarrhea and a perianal abscess of three months duration. Laboratory tests revealed elevated inflammatory parameters, hypoalbuminemia, and anemia. Results of repeated viral, bacterial and parasitic analyses were negative. Endoscopic and histopathological examinations confirmed a diagnosis of I-IBD. Although diarrhea episodes decreased following intensive conventional treatment with immunosuppressive therapy and anti-tumor necrosis factor, the perianal abscess and fistula did not resolve. Molecular genetic analysis to identify causes of infantile disease revealed the MEFV gene mutation. Thus, colchicine was added to the treatment regimen. Following treatment with colchicine, defecation returned to normal, and the fistula resolved. The MEFV gene mutation should be investigated in children with infantile colitis and resistant fistulas, particularly in Mediterranean countries. In patients with infantile colitis who have the MEFV gene mutation, colchicine treatment may be an alternative to intensive immunosuppressive therapy.
婴儿炎症性肠病（I-IBD）的症状可能危及生命且预后不良。地中海热（MEFV）基因突变的存在在I-IBD的治疗中起重要作用。在本文中，我们描述了一例患有难治性瘘管的I-IBD病例，该病例在秋水仙碱治疗后实现缓解。患者为一名6个月大的女童，主诉有血性腹泻及持续3个月的肛周脓肿。实验室检查显示炎症指标升高、低蛋白血症和贫血。多次病毒、细菌和寄生虫分析结果均为阴性。内镜及组织病理学检查确诊为I-IBD。尽管在强化常规免疫抑制治疗和抗肿瘤坏死因子治疗后腹泻发作次数减少，但肛周脓肿和瘘管并未愈合。为明确婴儿疾病病因进行的分子遗传学分析发现了MEFV基因突变。因此，秋水仙碱被添加到治疗方案中。使用秋水仙碱治疗后，排便恢复正常，瘘管愈合。对于患有婴儿结肠炎和难治性瘘管的儿童，尤其是在地中海国家，应调查MEFV基因突变情况。对于具有MEFV基因突变的婴儿结肠炎患者，秋水仙碱治疗可能是强化免疫抑制治疗的替代方案。
