Schuppan Detlef
Institut für Translationale Immunologie, Zentrum für Zöliakie und Dünndarmerkrankungen und Forschungszentrum für Immuntherapie (FZI), Universitätsmedizin, Johannes Gutenberg-Universität Mainz, Langenbeckstr.1, 55131, Mainz, Deutschland.
Division of Gastroenterology and Celiac Center, Beth Israel Deaconess Medical Center, Harvard Medical School, 02215, Boston, MA, USA.
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2016 Jul;59(7):827-35. doi: 10.1007/s00103-016-2364-1.
Celiac disease is induced by the consumption of gluten containing cereals (wheat, spelt, barley, rye). With a prevalence of ~ 1 %, it is the most common non-infectious chronic inflammatory intestinal disease worldwide. It manifests in all age groups, either classically with abdominal pain, diarrhoea and growth failure or weight loss, more commonly with indirect consequences of malabsorption, such as anaemia and osteoporosis, or with associated autoimmune diseases like type 1 diabetes, autoimmune thyroiditis or dermatitis herpetiformis. The pathogenesis of celiac disease is well explored. Gluten, the cereal storage protein, is not completely digested and reaches the intestinal mucosa where it activates inflammatory T cells, which cause atrophy of the resorptive villi. This T‑cell activation requires a genetic predisposition (the molecules HLA-DQ2 or -DQ8 on antigen-presenting immune cells). Moreover, the enzyme tissue transglutaminase (TG2) which is released in the mucosa increases the immunogenicity of the gluten peptides by a deamidation reaction. The test for serum antibodies to the autoantigen TG2 is one of the best diagnostic markers in medicine, which in combination with endoscopically obtained biopsies, secures the diagnosis of celiac disease. Despite these tools celiac disease is severely underdiagnosed, with 80-90 % of those affected being undetected. The untreated condition can lead to grave complications. These include the consequences of malabsorption, cancers (especially intestinal T‑cell lymphoma), and likely also the promotion of autoimmune diseases. The therapy of celiac disease, a strict gluten-free diet, is difficult to maintain and not always effective. Alternative, supporting pharmacological therapies are urgently needed and are currently in development.
乳糜泻由食用含麸质谷物（小麦、斯佩耳特小麦、大麦、黑麦）引发。其患病率约为1%，是全球最常见的非感染性慢性炎症性肠病。该病在所有年龄组均可出现，典型表现为腹痛、腹泻、生长发育迟缓或体重减轻，更常见的是吸收不良的间接后果，如贫血和骨质疏松，或伴有自身免疫性疾病，如1型糖尿病、自身免疫性甲状腺炎或疱疹样皮炎。乳糜泻的发病机制已得到充分研究。麸质，即谷物储存蛋白，未被完全消化并到达肠黏膜，在那里激活炎性T细胞，导致吸收性绒毛萎缩。这种T细胞激活需要遗传易感性（抗原呈递免疫细胞上的HLA-DQ2或-DQ8分子）。此外，在黏膜中释放的组织转谷氨酰胺酶（TG2）通过脱酰胺反应增加了麸质肽的免疫原性。针对自身抗原TG2的血清抗体检测是医学上最好的诊断标志物之一，与内镜下获取的活检组织相结合，可确诊乳糜泻。尽管有这些检测手段，乳糜泻仍严重漏诊，80% - 90%的患者未被发现。未经治疗的病情可导致严重并发症。这些并发症包括吸收不良的后果、癌症（尤其是肠道T细胞淋巴瘤），也可能会促进自身免疫性疾病的发生。乳糜泻的治疗方法是严格的无麸质饮食，这种饮食难以维持且并非总是有效。迫切需要替代性的支持性药物治疗，目前正在研发中。
