妊娠期肝内胆汁淤积症相关基因的研究

Advancement in Study on Related Gene of Obstetric Cholestasis

妊娠期肝内胆汁淤积症(intrahepatic cholestasis of pregnancy,ICP)是两种获得性胆汁淤积性肝脏疾病之一,是严重威胁围生儿健康的妊娠期并发症,可导致早产、羊水胎粪污染及胎死宫内。ICP发病机制至今仍未明确,可能与激素、遗传变异、免疫因素及环境因素相关。近年有关ICP的发病与基因突变关系的研究成为热点,尤其可能与ABCB11基因、ABCB4基因和ATP8B1基因突变密切相关,并在ICP发病中发挥重要作用。

Intrahepatic cholestasis of pregnancy（ICP）is a liver function unique to pregnancy,which usually manifests during late pregnancy.It is one of the two acquired cholestasis.The occurrence of ICP carries a high risk for the baby because of premature spontaneous delivery,meconium passage and sudden fetal death.However,the cause of ICP is unknown.There is increasing evidence that ICP might connect with hormone,genetic variability,immune and environmental factor.For the past few years,the investigation on relationship between pathogenesis and gene mutation has become a hot spot.It has become evidence that ICP is mainly correlate with gene mutation,including multidrug resistance protein 3（MDR3,ABCB4）gene,bile salt export pump（BSEP,ABCB11）and the familial cholestasis type 1（FIC1,ATP8B1）gene.Genetics may also play an important role in development of ICP.