Auto-inflammatory diseases in ileal pouch patients with NOD2/CARD15 mutations  

NOD2/CARD15突变的回肠储袋患者的自身免疫性疾病

作　　者：Darren N.Seril Qingping Yao Bo Shen 

机构地区：[1]Division of Gastroenterology/Hepatology,Albany Medical College,Albany,New York,USA [2]Departments of Rheumatic and Immunologic Disease,The Cleveland Clinic Foundation,Cleveland,Ohio,USA [3]Department of Gastroenterology/Hepatology,The Cleveland Clinic Foundation,Cleveland,Ohio,USA

出　　处：《Gastroenterology Report》2016年第1期73-76,I0003,共5页胃肠病学报道（英文）

基　　金：supported by the Ed and Joey Story Endowed Chair.The manuscript received no direct financial support.

摘　　要：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 IVS8þ158 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.

关 键 词：auto-inflammation ileal pouch POUCHITIS restorative proctocolectomy ulcerative colitis 

分 类 号：R57[医药卫生—消化系统]