遗传学在原发性胆汁性肝硬化中的作用在三姐妹的介绍下

T. Temel, P. Yildiz, A. Özakyol
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引用次数: 0

摘要

目的:越来越多的证据表明遗传易感性和环境因素导致原发性胆汁性肝硬化(PBC)。特别是,受感染个体的家庭成员患PBC的风险更高。在这里,我们提出三个兄弟姐妹中的两个没有任何临床症状。病例:三个兄弟姐妹,分别为44岁,53岁和51岁,被诊断为PBC。其中一人例外,其他人无症状,44岁女性有已知的PBC结果,如黄疸巩膜,腹水,凝血酶原时间延长,INR升高和脾肿大。相反,另外两个兄弟姐妹没有与PBC相关的症状,但筛查试验诊断为PBC。讨论:总之,家族性PBC并不罕见,它与母亲遗传因素有关。PBC最初可能无症状,因此家族筛查在早期诊断和治疗中很重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Role of genetics in the Primary Biliary Cirrhosis; withthe presentation of the three sisters
Objective:There is growing evidence of genetic susceptibility and environmental factors lead to primary biliary cirrhosis (PBC). In particular, family members of an infected individual can have higher risk of developing PBC. Here we present two of three siblings who did not have any clinical symptoms.Case:Three siblings, who are 44, 53 and 51 years old respectively, were diagnosed as PBC. One of them excepted and the others were asymptomatic and the 44 yearsold women has a known results of PBC such as icteric sclera, ascites, prolonged prothrombin time, elevated INR and splenomegaly. On the contrary, other two sibling did not have symptoms associated with PBC but the screening tests diagnosed PBC.Discussion:In conclusion that familial PBC is not rare, that it is related to maternally inherited factors. PBC may be initially asymptomatic and therefore family screening is important in the early diagnosis and treatment.
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