HNF1B基因变异胎儿的临床特征及预后:52例分析  

Clinical characteristics and prognosis of fetuses with HNF1B gene variants:an analysis of 52 cases

作　　者：莫兰兰 杨赛赛 任淑敏[1] 侯雅勤[1] 史惠蓉[1] 吴庆华[1] Mo Lanlan;Yang Saisai;Ren Shumin;Hou Yaqin;Shi Huirong;Wu Qinghua(Center of Genetics and Prenatal Diagnosis,Department of Obstetrics and Gynecology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]郑州大学第一附属医院妇产医学部遗传与产前诊断中心,郑州450052

出　　处：《中华围产医学杂志》2025年第4期295-300,共6页Chinese Journal of Perinatal Medicine

摘　　要：目的探讨HNF1B基因变异胎儿临床特征及预后。方法回顾性纳入2018年1月至2024年6月在郑州大学第一附属医院行染色体拷贝数变异测序和/或全外显子组测序诊断HNF1B基因变异胎儿52例,包括17q12微缺失47例和HNF1B点突变5例,采用描述性方法分析产前超声特征、妊娠结局和出生后表现。结果52例胎儿产前超声特征为肾实质回声增强43例(82.7%)、肾脏囊肿15例(28.8%)、肾脏体积增大14例(26.9%)及肾盂分离13例(25.0%)。35例完成父母验证,71.4%(25/35)为新发变异,28.6%(10/35)来源于父母之一。随访发现,8例妊娠结局不明(6例失访、2例拒绝随访);44例完成随访,其中68.2%(30/44)终止妊娠,31.8%(14/44)继续妊娠均活产。14例活产儿均有产前肾脏超声异常,生后随访发现7例肾脏正常(即肾实质回声增强、消退),1例双侧肾囊肿缩小,1例双侧肾盂分离减轻,4例肾脏结构异常未好转,1例未复查。结论HNF1B基因变异胎儿期肾脏超声异常率高。尽管出生后肾脏结构异常可能改善,但终止妊娠率较高。Objective To investigate the clinical characteristics and prognosis of fetuses with HNF1B gene variants.Methods Fifty-two fetuses with HNF1B gene variants diagnosed by chromosomal copy number variation sequencing and/or whole exome sequencing at the First Affiliated Hospital of Zhengzhou University from January 2018 to June 2024 were retrospectively enrolled in this study,including 47 cases of 17q12 microdeletion and five cases of HNF1B point mutations.Prenatal ultrasound features,pregnancy outcomes,and postnatal manifestations were summarized and analyzed using descriptive statistics.Results The prenatal ultrasound features of the 52 fetuses included enhanced renal parenchymal echo in 43 cases(82.7%),renal cysts in 15 cases(28.8%),enlarged kidney volume in 14 cases(26.9%),and pyelectasis in 13 cases(25.0%).Parental verification was completed for 35 cases,with 71.4%(25/35)being de novo mutations and 28.6%(10/35)inherited from either parent.Apart from eight cases with unknown pregnancy outcome(six cases were lost to follow-up,two cases refused to be followed up),the other 44 cases were successfully followed up,among which 68.2%(30/44)terminated the pregnancies and 31.8%(14/44)continued,resulting in live births.Prenatal ultrasound indicated renal abnormalities in all 14 live births,while postnatal follow-up showed seven cases with normal kidneys,one with reduced bilateral renal cysts,one with alleviated bilateral pyelectasis,four with unimproved renal structural abnormalities,and one who did not undergo a re-examination.Conclusion The rate of renal abnormalities diagnosed by prenatal ultrasound in fetuses with HNF1B gene variants is high,and most of the pregnancies are terminated,although the renal sturctural abnormalities may improve after birth.

关 键 词：HNF1B基因 17q12微缺失综合征 肾脏发育异常 预后 

分 类 号：R714.5[医药卫生—妇产科学]