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三名家庭成员的遗传性乳糜泻

Genetically determined coeliac disease in three family members.

作者信息

Szaflarska-Szczepanik A, Miścicka-Sliwka D

机构信息

Department of Pediatrics, Allergology and Gastroenterology, Medical University, ul. Uiejskiego 75, 85-168 Bydgoszcz, Poland.

出版信息

Med Sci Monit. 2000 Nov-Dec;6(6):1182-5.

Abstract

The work presents 3 members of a family of 4, who were diagnosed to have coeliac disease (one classic and two latent forms of the disease). Genetic investigation regarding all three patients revealed the existence of HLA DQ A1*0501 allele associated with susceptibility to coeliac disease. Due to a much more frequent occurrence of atypical forms of coeliac disease in family members, than in general population, and due to risks resulting from tardy diagnoses and the lack of treatment, it is recommended that patients should be subjected to tests determining the presence of antiendomysial antibodies, as well as to genetic investigation with regards to latent coeliac disease.

摘要

该研究报道了一个四口之家的3名成员,他们被诊断患有乳糜泻(1例典型和2例隐匿型)。对所有3名患者的基因检测发现,他们均存在与乳糜泻易感性相关的HLA DQ A1*0501等位基因。由于乳糜泻非典型形式在家庭成员中的发生率远高于普通人群,且存在诊断延迟和缺乏治疗所带来的风险,因此建议对患者进行抗肌内膜抗体检测以及隐匿型乳糜泻的基因检测。

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