Division of Gastroenterology/Hepatology, Albany Medical College, Albany, New York, USA.
Departments of Rheumatic and Immunologic Disease, The Cleveland Clinic Foundation, Cleveland, Ohio, USA.
Gastroenterol Rep (Oxf). 2016 Feb;4(1):73-6. doi: 10.1093/gastro/gou069. Epub 2014 Oct 13.
Pouchitis is common in ulcerative colitis patients undergoing total proctocolectomy with ileal pouch-anal anastomosis, and chronic antibiotic-refractory pouchitis occurs in a subgroup of the patients. Auto-inflammatory diseases are characterized by systemic inflammation, manifesting as periodic fever, rash, arthritis, and serositis. We describe two cases with ulcerative colitis and an ileal pouch, who presented with extra-intestinal manifestations and genetic features atypical for inflammatory bowel disease alone. Case 1 had a spectrum of clinical manifestations including refractory pouchitis, intermittent fevers, polyarthralgia, and pericarditis. Case 2 presented with oral ulcers, migratory oligoarthritis, and periodic papular rash. Genetic testing in both cases revealed mutations of the NOD2/CARD15 gene, including the IVS8(+158) mutation commonly detected among patients with NOD2-associated auto-inflammatory disease. Both of the patients demonstrated clinical improvement of these diverse systemic complaints following treatment with immunosuppressive and anti-inflammatory therapies.
pouchitis 在接受全直肠结肠切除加回肠储袋肛管吻合术的溃疡性结肠炎患者中很常见，并且在亚组患者中会发生慢性抗生素难治性 pouchitis。自身炎症性疾病的特征是全身炎症，表现为周期性发热、皮疹、关节炎和浆膜炎。我们描述了两例溃疡性结肠炎和回肠储袋患者，他们表现出肠道外表现和遗传特征，这些特征与单独的炎症性肠病不典型。病例 1 具有一系列临床表现，包括难治性 pouchitis、间歇性发热、多关节炎和心包炎。病例 2 表现为口腔溃疡、游走性少关节炎和周期性丘疹性皮疹。对这两例患者的基因检测均发现 NOD2/CARD15 基因突变，包括 NOD2 相关自身炎症性疾病患者中常见的 IVS8(+158)突变。在接受免疫抑制和抗炎治疗后，这两例患者的这些不同的全身症状均得到了临床改善。
