乳糜泻非典型病例的临床实验室研究:如何预测诊断。

Q2 Medicine
Ana Comes Raga, Irene Millá Tamarit, Marta Fandos Sánchez, Pilar Teresa Timoneda Timoneda, Clara Marti Macia, Ana Belén Durá Ayet, Goitzane Marcaida Benito
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引用次数: 0

摘要

乳糜泻(CD)是一种由遗传易感个体摄入麸质引起的系统性自身免疫性病理状况。尽管它的流行范围很广,但它仍然是一种未被诊断的疾病,因为很大一部分患有这种疾病的人没有这种疾病所描述的典型症状。我们提出的情况下,一个43岁的男子严重缺铁和虚弱。我们发现了高水平的抗转谷氨酰胺酶和抗肌内膜抗体,严重的上皮内淋巴细胞增多,胃镜检查发现3A Marsh-Oberhuber分类,HLA-DQ2和HLA-DQ8异源二聚体的存在。患者被诊断为乳糜泻,并开始无谷蛋白饮食。19个月后,观察到CD生物标志物和其他生化参数的改善。乳糜泻诊断的延迟可能导致营养缺乏,比如缺铁,即使口服铁治疗也无法改善。在类似的临床表现下,实验室可以提前诊断乳糜泻。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

A Clinical Laboratory Study of a Non-Classical Case of Celiac Disease: How to Anticipate the Diagnosis.

A Clinical Laboratory Study of a Non-Classical Case of Celiac Disease: How to Anticipate the Diagnosis.

A Clinical Laboratory Study of a Non-Classical Case of Celiac Disease: How to Anticipate the Diagnosis.

Celiac disease (CD) is a systemic autoimmune pathological condition caused by the intake of gluten in genetically predisposed individuals. Despite its wide prevalence, it remains an underdiagnosed disease since a large percentage of individuals who suffer from the condition do not have the classic symptoms described for the disease. We present the case of a 43-year-old man with severe iron deficiency and asthenia. We found high levels of anti-transglutaminase and anti-endomysium antibodies, a severe intraepithelial lymphocytosis, 3A Marsh-Oberhuber classification upon gastroscopy and the presence of HLA-DQ2 and HLA-DQ8 heterodimers. The patient was diagnosed with CD and was placed on a gluten-free diet. After 19 months, an improvement in biomarkers of CD and other biochemical parameters was observed. A delay in the diagnosis of CD can produce nutritional deficiencies, such as iron deficiency which may not improve even with oral iron treatment. In similar clinical presentation, the laboratory can advance a diagnosis of CD.

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