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一名极年幼女孩的多自身免疫异常表现——病例报告

Exceptional manifestation of polyautoimmunity in a very young girl - a case report.

作者信息

Mroczkowska-Juchkiewicz Agnieszka, Postępski Jacek, Olesińska Edyta, Krawiec Paulina, Pac-Kożuchowska Elżbieta

机构信息

Department of Paediatrics, Medical University of Lublin, Lublin, Poland.

Department of Paediatric Pulmonology and Rheumatology, Medical University of Lublin, Lublin, Poland.

出版信息

Cent Eur J Immunol. 2017;42(1):107-110. doi: 10.5114/ceji.2017.67324. Epub 2017 May 8.

Abstract

Polyautoimmunity is defined as the presence of more than one autoimmune disease in a single patient. The exact pathogenic mechanisms responsible for the coexistence of distinct autoimmune diseases within an individual have not been clearly explained. We report a case of a very young girl with the extremely rare co-existence of four distinct autoimmune diseases i.e. juvenile idiopathic arthritis, type 1 diabetes mellitus, coeliac disease and autoimmune hepatitis, recognized based on validated international classification criteria. The best to our knowledge there has been no case reporting coexistence of these particular four disorders in an individual. Moreover, all these diseases occurred during first three years of life, which also cause that case unique. Molecular studies of human leukocyte antigen (HLA) class II in our patient showed the presence of the HLA DRB101, HLA DRB103, HLA DQB102, HLA DQB105 molecules, which may suggest immunogenetic links between those autoimmune diseases. The presented case highlights the importance of active screening for other autoimmune diseases, if a patient with one autoimmune disease manifests with new or nonspecific symptoms.

摘要

多发性自身免疫病被定义为单一患者体内存在一种以上的自身免疫性疾病。个体内不同自身免疫性疾病共存的确切致病机制尚未得到明确解释。我们报告了一例非常年轻的女孩,她同时患有四种极为罕见的不同自身免疫性疾病,即幼年特发性关节炎、1型糖尿病、乳糜泻和自身免疫性肝炎,这些疾病是根据经过验证的国际分类标准确诊的。据我们所知,此前尚无关于个体同时患有这四种特定疾病的病例报告。此外,所有这些疾病均在生命的头三年出现,这也使得该病例独一无二。对我们患者的人类白细胞抗原(HLA)II类分子进行的分子研究显示,存在HLA DRB101、HLA DRB103、HLA DQB102、HLA DQB105分子,这可能提示这些自身免疫性疾病之间存在免疫遗传学联系。该病例强调了,如果一名患有某种自身免疫性疾病的患者出现新的或非特异性症状,积极筛查其他自身免疫性疾病的重要性。

相似文献

本文引用的文献

1
Celiac disease as an autoimmune condition.乳糜泻作为一种自身免疫性疾病。
Cent Eur J Immunol. 2014;39(3):396-9. doi: 10.5114/ceji.2014.45954. Epub 2014 Oct 14.
2
The diagnosis and clinical significance of polyautoimmunity.多自身免疫病的诊断和临床意义。
Autoimmun Rev. 2014 Apr-May;13(4-5):423-6. doi: 10.1016/j.autrev.2014.01.049. Epub 2014 Jan 11.

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