Cronkhite-Canada综合征9例临床分析

Cronkhite⁃Canada Syndrome:Clinical Analysis of 9 Cases

背景:Cronkhite-Canada综合征(CCS)是一种病因不明的罕见非遗传性疾病,目前其诊断和治疗仍面临挑战。目的:总结中国人CCS的临床特征、治疗和转归,以提高临床医师对该病的认知。方法:回顾性分析北京大学第三医院2012—2022年间收治的CCS病例。结果:研究共纳入9例CCS患者,男女比例为1.25∶1,确诊时平均年龄63.89岁。所有患者均表现为胃肠道息肉病、非特异性消化道症状以及至少一项外胚层表现,粪隐血试验均阳性,缺铁性贫血、低白蛋白血症、IgE升高常见。组织学表现为增生性息肉或腺瘤性息肉,嗜酸性粒细胞浸润常见。患者存在严重骨质疏松和骨折、小肠细菌过度生长、哮喘、膜性肾病、结节性甲状腺肿和腹膜后纤维化、焦虑状态等合并症。多数患者激素治疗有较好效果,但激素减量或停用后疾病可反复。1例患者尝试应用硫唑嘌呤治疗,但效果欠佳。结论:CCS是一种免疫相关疾病,感染、过敏、遗传因素、肠道微生态等在CCS发病中的作用有待进一步研究。激素是目前CCS的主要治疗手段,存在激素抵抗或激素治疗禁忌的患者治疗仍面临挑战。

Background:Cronkhite⁃Canada syndrome(CCS)is a rare nonhereditary disease of unknown etiology,there are still challenges in its diagnosis and treatment.Aims:To summarize the clinical characteristics,treatment response and outcome of CCS in Chinese population,and to improve the understanding of CCS in clinicians.Methods:Medical records of CCS patients diagnosed in Peking University Third Hospital from 2012 to 2022 were collected retrospectively and reviewed.Results:Nine cases of CCS patients were enrolled,the mean age at diagnosis was 63.89 years,and the male to female ratio was 1.25.All patients presented with diffuse gastrointestinal polyposis,accompanied by nonspecific gastrointestinal symptoms and at least one ectodermal abnormality.Fecal occult blood test was positive in all the cases,and iron deficiency anemia,hypoalbuminemia,and elevated serum IgE were commonly seen laboratory abnormalities.Gastrointestinal biopsy samples suggested hyperplastic polyps and adenomatous polyps histologically,with eosinophil infiltration in 5 cases.Comorbidities included severe osteoporosis and fracture,small intestinal bacterial overgrowth,asthma,membranous nephropathy,nodular goiter and retroperitoneal fibrosis,and anxiety disorder,etc.Corticosteroids therapy resulted in at least partial remission in most of the cases,but relapse was common with steroid tapering or withdrawal.Azathioprine was used in one patient and no response was observed.Conclusions:CCS is an immune⁃mediated disease,and the underlying mechanisms of infection,allergy,genetic factors,and gut microbiota might be taken into account.Corticosteroids are the mainstay of treatment.However,there are still challenges for patients with steroid⁃resistant CCS or patients with contraindications to corticosteroids.