Muhlstein J, Golfier F, Frappart L, Poulizac G, Abel F, Touitou I, Hajri T, Raudrant D
Pôle de gynécologie-obstétrique et reproduction, service de gynécologie, maternité régionale Adolphe-Pinard, 10, rue du Dr.-Heydenreich, CS 74213, 54042 Nancy cedex, France.
Gynecol Obstet Fertil. 2010 Nov;38(11):672-6. doi: 10.1016/j.gyobfe.2010.08.014. Epub 2010 Oct 20.
Repetitive moles are rare. They are either sporadic or familial, with or without consanguinity. Some of them can be explained by a NLRP7 mutation, which causes genomic parental imprinting alteration, with a preferential paternal phenotypic expression. Currently, no effective therapeutic solution has been developed. Among the 1687 patients declared to the French Trophoblastic Disease Reference Center, 13 presented at least two hydatidiform moles, thus less than 1% of the patients. A mutation of the NLRP7 gene was shown in six of 12 tested patients (50%) among whom three presented a homozygous mutation and three a heterozygous mutation. For an affected patient, type of mole can indifferently be a complete hydatidiform mole or a partial hydatidiform mole. We describe these cases and compare them to those already published.
重复性葡萄胎较为罕见。它们可为散发性或家族性，有无近亲结婚情况均可出现。其中一些可由NLRP7突变来解释，该突变会导致基因组亲本印记改变，具有父系表型优先表达的特点。目前尚未开发出有效的治疗方案。在向法国滋养细胞疾病参考中心申报的1687例患者中，有13例至少出现过两次葡萄胎，因此占患者总数不到1%。在12例接受检测的患者中，有6例（50%）显示NLRP7基因突变，其中3例为纯合突变，3例为杂合突变。对于受影响的患者，葡萄胎类型可以是完全性葡萄胎或部分性葡萄胎。我们描述这些病例并将它们与已发表的病例进行比较。
