Ierardi Enzo, Losurdo Giuseppe, Piscitelli Domenico, Giorgio Floriana, Sorrentino Claudia, Principi Mariabeatrice, Montenegro Lucia, Amoruso Annacinzia, Di Leo Alfredo
Section of Gastroenterology, Department of Emergency and Organ Transplantation, University of Bari, Italy.
Gastroenterol Hepatol Bed Bench. 2015 Spring;8(2):110-6.
The diagnosis of Celiac Disease (CD) relies on the concordance of pathological, serological, genetic and clinical features. For this reason, the diagnosis of CD is often a challenge. Seronegative celiac disease (SNCD) is defined by the negativity of anti-tissue transglutaminase antibodies in the presence of a positive histology on duodenal biopsy samples, i.e. inflammatory infiltrate of intra-epithelial lymphocytes (IELs > 25/100 enterocytes), mild villous atrophy and uneven brush border associated to human leukocyte antigen (HLA) haplotype DQ2 and/or DQ8. SNCD is characterized by mucosal deposits of tissue transglutaminase (tTG)/anti-tTG immuno-complexes. These may counteract the passage of anti-tTG into the bloodstream, thus explaining seronegativity. Another reason for seronegativity may be found in an incomplete maturation of plasma cells with a consequent failure of antibodies production. This condition often characterizes immunoglobulin deficiencies, and, indeed, SNCD is common in subjects with immunoglobulin deficiencies. The management of SNCD still remains debated. The treatment option for SNCD may be represented by gluten free diet (GFD), but the usefulness and appropriateness of prescribing GFD are controversial. Some evidences support its use only in SNCD subjects showing CD clear clinical picture and compatible HLA status. The choice of GFD administration could be linked to an investigation able to diagnose SNCD in no doubt even if a reliable test is not currently available. On these bases, a test helping the diagnosis of SNCD is justifiable and desirable.
乳糜泻（CD）的诊断依赖于病理、血清学、遗传学和临床特征的一致性。因此，CD的诊断常常具有挑战性。血清阴性乳糜泻（SNCD）的定义是，十二指肠活检样本组织学检查呈阳性（即上皮内淋巴细胞炎症浸润，IELs>25/100个肠上皮细胞），同时抗组织转谷氨酰胺酶抗体呈阴性，伴有轻度绒毛萎缩和与人类白细胞抗原（HLA）单倍型DQ2和/或DQ8相关的刷状缘不均一。SNCD的特征是组织转谷氨酰胺酶（tTG）/抗tTG免疫复合物的黏膜沉积。这些复合物可能会阻碍抗tTG进入血液，从而解释了血清阴性的原因。血清阴性的另一个原因可能是浆细胞成熟不完全，导致抗体产生失败。这种情况常出现在免疫球蛋白缺乏症患者中，事实上，SNCD在免疫球蛋白缺乏症患者中很常见。SNCD的治疗方法仍存在争议。SNCD的治疗选择可能是无麸质饮食（GFD），但开具GFD的有效性和适用性存在争议。一些证据支持仅在表现出CD明确临床症状且HLA状态相符的SNCD患者中使用。即使目前没有可靠的检测方法，GFD的使用选择也可能与一项能够明确诊断SNCD的检查有关。基于这些原因，一种有助于诊断SNCD的检测方法是合理且必要的。
