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乳糜泻

Celiac disease.

作者信息

Holtmeier Wolfgang, Caspary Wolfgang F

机构信息

Medizinische Klinik I, Johann Wolfgang Goethe-Universität, Theodor-Stern-Kai 7, 60590 Frankfurt am Main, Germany.

出版信息

Orphanet J Rare Dis. 2006 Mar 1;1:3. doi: 10.1186/1750-1172-1-3.

Abstract

Celiac disease is a chronic intestinal disease caused by intolerance to gluten. It is characterized by immune-mediated enteropathy, associated with maldigestion and malabsorption of most nutrients and vitamins. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. The main symptoms are: stomach pain, gas, and bloating, diarrhea, weight loss, anemia, edema, bone or joint pain. Prevalence for clinically overt celiac disease varies from 1:270 in Finland to 1:5000 in North America. Since celiac disease can be asymptomatic, most subjects are not diagnosed or they can present with atypical symptoms. Furthermore, severe inflammation of the small bowel can be present without any gastrointestinal symptoms. The diagnosis should be made early since celiac disease causes growth retardation in untreated children and atypical symptoms like infertility or neurological symptoms. Diagnosis requires endoscopy with jejunal biopsy. In addition, tissue-transglutaminase antibodies are important to confirm the diagnosis since there are other diseases which can mimic celiac disease. The exact cause of celiac disease is unknown but is thought to be primarily immune mediated (tissue-transglutaminase autoantigen); often the disease is inherited. Management consists in life long withdrawal of dietary gluten, which leads to significant clinical and histological improvement. However, complete normalization of histology can take years.

摘要

乳糜泻是一种由对麸质不耐受引起的慢性肠道疾病。其特征为免疫介导的肠病,伴有大多数营养物质和维生素的消化及吸收不良。在易感个体中,摄入含麸质的食物(如小麦和黑麦)会导致空肠黏膜变平,并伴有淋巴细胞浸润。主要症状包括:胃痛、胀气、腹胀、腹泻、体重减轻、贫血、水肿、骨骼或关节疼痛。临床显性乳糜泻的患病率在芬兰为1:270,在北美为1:5000。由于乳糜泻可能无症状,大多数患者未被诊断出来,或者可能表现出非典型症状。此外,小肠可能存在严重炎症但无任何胃肠道症状。由于乳糜泻会导致未治疗儿童生长发育迟缓以及出现如不孕或神经症状等非典型症状,所以应尽早诊断。诊断需要通过空肠活检进行内镜检查。此外,组织转谷氨酰胺酶抗体对于确诊很重要,因为还有其他疾病可能会模仿乳糜泻。乳糜泻的确切病因尚不清楚,但一般认为主要是免疫介导的(组织转谷氨酰胺酶自身抗原);该病常具有遗传性。治疗方法是终身避免摄入膳食麸质,这会使临床和组织学状况有显著改善。然而,组织学完全恢复正常可能需要数年时间。

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