一个大家族中的妊娠期特发性胆汁淤积症

Idiopathic cholestasis of pregnancy in a large kindred.

作者信息

Reyes H, Ribalta J, González-Cerón M

出版信息

Gut. 1976 Sep;17(9):709-13. doi: 10.1136/gut.17.9.709.

DOI:10.1136/gut.17.9.709

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1411277/

Abstract

A past history of idiopathic cholestasis of pregnancy (ICP) was detected in 10 out of the 32 multiparous women in the last two generations of a large kindred. The affected women are distributed in five family units, sharing Chilean-born great-grandparents. The connection between the ICP-affected women and the common trunk is given both by male and female parents. Five cases are concentrated in one family unit, where the mother and all her daughters have been affected by the disease. The role of genetic factors in the pathogenesis of ICP is supported by this study. It is proposed that the disease may be transmitted as a predisposing trait by individuals of either sex and that non-genetic factors may influence its expressivity. A reliable test to identify all the genetic carriers seems indispensable to define the pattern of inheritance in this disease.

摘要

在一个大家族的最后两代32名经产妇中，有10人被检测出有妊娠特发性胆汁淤积症（ICP）病史。受影响的女性分布在五个家族单位中，她们的曾祖父母均出生于智利。受ICP影响的女性与共同主干的联系是通过父母双方建立的。五个病例集中在一个家族单位，母亲和她所有的女儿都患有这种疾病。这项研究支持了遗传因素在ICP发病机制中的作用。有人提出，这种疾病可能由任何性别的个体作为一种易患性状进行传递，并且非遗传因素可能影响其表现度。一项可靠的检测以识别所有基因携带者，对于确定这种疾病的遗传模式似乎是必不可少的。

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