家族性复发性葡萄胎及相关致病基因的研究进展

Advances in familial recurrent hydatidiform mole and its pathogenic genes

家族性复发性葡萄胎(FRHM)是葡萄胎的一种特殊形式,常有家族聚集倾向,绝大多数患者不能获得正常胎儿,临床尚无有效干预措施。已有研究表明该疾病与NLRP7和KHDC3L基因突变有关,而且这2种基因在进化来源、细胞定位等方面具有一定的相似性。基因突变类型不同,对葡萄胎表型、后续妊娠结局的影响不同。本文对家族性复发性葡萄胎的发现过程、致病基因的研究现状、基因突变在葡萄胎发生中的作用及存在的问题等进行综述。

Familial recurrent hydatidiform mole （FRHM） is a special kind of molar pregnancy with a familial aggregation tendency, largely patients suffering FRHM cannot have a healthy baby. What doctors could do is limited. Two disease-causing genes have been identified to be related to FRHM, which are NLRP7 and KHDC3L. Both of them have some similarities in genetic evolution and celluar localization. Molar types and subsequent pregnancy outcomes are influenced by these two genes. Here we reviewed the discovery of FRHM, the current understanding of these genes and the influence of gene mutation on molar pregnancies.