Török Helga Paula, Koletzko Sibylle
Medizinische Klinik und Poliklinik 2, LMU Klinikum München, Campus Innenstadt/Großhadern, Marchioninistr. 15, 81377, München, Deutschland.
Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital, LMU Klinikum München, München, Deutschland.
Inn Med (Heidelb). 2025 Feb;66(2):165-173. doi: 10.1007/s00108-024-01842-9. Epub 2025 Jan 20.
Celiac disease is one of the most common lifelong autoimmune disorders and is currently understood as a genetically determined immune intolerance to gluten. In genetically predisposed individuals, the consumption of gluten, along with additional environmental factors, triggers an immunological reaction in the small intestinal epithelium, leading to the destruction of the mucosal architecture with villous atrophy. This can be asymptomatic, but may also cause a wide range of symptoms and lead to systemic complications, such as osteoporosis or infertility. The only treatment is a lifelong, strictly gluten-free diet. Despite advances in diagnostics, many cases remain unrecognized. Diagnosis is based on the serological detection of autoantibodies against tissue transglutaminase 2 (tTG-IgA) and, if necessary, a small intestinal biopsy. Population-wide screening during childhood or adolescence, as legally introduced in Italy in September 2023, could promote early detection and prevent long-term complications. For the monitoring of diagnosed patients, regular clinical check-ups and serological testing are standard practice. In cases of persistent symptoms or risk factors for ongoing villous atrophy, a follow-up duodenal histology examination is recommended. Persistent symptoms despite adherence to a gluten-free diet are often due to continued gluten exposure; however, alternative causes must also be ruled out. In cases of severe malabsorptive symptoms, the rare condition of refractory celiac disease should be considered, with management carried out in specialized centers.
乳糜泻是最常见的终身性自身免疫性疾病之一,目前被认为是一种由基因决定的对面筋的免疫不耐受。在具有遗传易感性的个体中,摄入面筋以及其他环境因素会引发小肠上皮的免疫反应,导致绒毛萎缩,破坏黏膜结构。这可能没有症状,但也可能引起广泛的症状,并导致全身性并发症,如骨质疏松症或不孕症。唯一的治疗方法是终身严格遵循无麸质饮食。尽管诊断技术有所进步,但仍有许多病例未被识别。诊断基于针对组织转谷氨酰胺酶2(tTG-IgA)的自身抗体的血清学检测,必要时进行小肠活检。2023年9月意大利依法推行的儿童或青少年全人群筛查,有助于早期发现并预防长期并发症。对于已确诊患者的监测,定期临床检查和血清学检测是标准做法。对于持续出现症状或存在持续性绒毛萎缩风险因素的患者,建议进行十二指肠组织学随访检查。尽管遵循无麸质饮食仍有持续症状,通常是由于持续接触麸质;然而,也必须排除其他原因。对于严重吸收不良症状的病例,应考虑罕见的难治性乳糜泻,在专业中心进行管理。