第488例——慢性腹泻、肝功能异常

The 488th case: chronic diarrhea and abnormal liver function

患者女性,56岁,既往1型糖尿病病史,本次因腹泻7个月,发现肝功能异常6个月收入北京协和医院消化内科。患者临床主要表现为反复发作的慢性腹泻和肝功能异常,同时伴有腹腔和腹膜后淋巴结肿大、CA19-9及癌胚抗原(CEA)升高。慢性腹泻,粪便苏丹Ⅲ染色阳性,病程中消耗症状重,整体符合脂肪泻特点。之后患者逐渐出现以肝脏合成指标异常为主的肝功能损害表现,肝脏影像提示在较短的时间内出现明显肝脏缩小,但肝脏形态改变与门脉高压不平行。经肝脏活检病理提示亚大块坏死后肝细胞结节状再生,伴细胆管增生。经两次小肠黏膜活检,病理显示小肠绒毛几乎完全萎缩伴隐窝增生、杯状细胞消失和黏蛋白减少,潘氏细胞几乎全部消失,未见上皮内淋巴细胞浸润。病程中利福昔明治疗未见改善,糖皮质激素治疗后症状缓解。经消化科、病理科、内分泌科、血液科、感染内科、风湿免疫科等多科协作,最终明确自身免疫肠病的诊断。患者经过糖皮质激素联合西罗莫司治疗及补充消化酶、肠道菌群调节等支持治疗后,目前腹泻缓解、肝功能恢复正常。

A 56-year-old female was admitted to Department of Gastroenterology at Peking Union Medical College Hospital with diarrhea for seven months,and abnormal liver function for six months.She had a history of type 1 diabetes.The main clinical manifestations were recurrent fatty diarrhea and abnormal liver function,accompanied by abdominal and retroperitoneal lymphadenopathy,elevated CA19-9 and CEA.Progressive impairment of hepatic synthetic function and shrinkage of liver developed in a short period of time.The pathology of liver biopsy suggested that nodular regeneration of hepatocytes was followed by hyperplasia of thin bile ducts after submassive necrosis.Intestinal mucosa biopsies were performed twice.The pathology showed that the intestinal villi were completely blunt,accompanied with crypt hyperplasia.Goblet cells disappeared with reduced mucin.Paneth cells were barely seen without intraepithelial infiltration of lymphocytes.Rifaximin was not effective,while glucocorticoids improved clinical situation.The diagnosis of autoimmune enteropathy was finally confirmed by multidisciplinary team including departments of gastroenterology,pathology,endocrinology,hematology,infectious diseases,and rheumatology.With the administration of glucocorticoid and sirolimus,diarrhea relieved and liver function returned to normal.