看起来不像乳糜泻,但实际上是。

Vincenzo Villanacci, Rachele Del Sordo, Orsola Setti, Barbara Zanini, Giovanni Casella
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引用次数: 0

摘要

乳糜泻(CD)的诊断有时具有挑战性,诊断过程并不总是遵循简单的算法,而是需要组织病理学家、临床医生、实验室和遗传专家之间的密切合作。乳糜泻的遗传易感性与HLA- dq2和/或DQ8有关,但其他HLA单倍型和非HLA基因也可能参与遗传易感性。特别是DQ7可能代表一种附加的和独立的与CD风险相关的单倍型。我们描述了一个不寻常的病例,42岁女性,既往诊断为霍奇金淋巴瘤,临床表现提示CD,抗转谷氨酰胺酶和抗肌内膜抗体阴性,HLA-DQ7阳性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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What does not look like celiac disease and instead it is.

The celiac disease (CD) diagnosis sometimes is challenging and diagnostic process cannot always follow a simple algorithm but it requires a close collaboration between histo-pathologists, clinicians, laboratory and genetic experts. The genetic predisposition for CD is related to HLA-DQ2 and/or DQ8 but other HLA haplotypes and non-HLA genes may be involved in genetic predisposition. In particular DQ7 may represent an additive and independent CD risk associated haplotype. We describe an unusual case of a female 42 year old with a previous diagnosis of Hodgkin lymphoma, who has a clinical presentation suggestive for CD with negativity for anti-transglutaminase and anti-endomysium antibodies and HLA-DQ7 positivity.

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