常染色体显性遗传多囊肾病合并男性不育患者植入前遗传学检测的临床结局  

Clinical Outcomes of Preimplantation Genetic Testing in Patients with Autosomal Dominant Polycystic Kidney Disease Associated with Male Infertility

作　　者：王家雄[1] 倪梦霞 汪维卓 唐政 沈丽燕[1] 付旭 杨慎敏[1] 偶健[1] WANG Jia-xiong;NI Meng-xia;WANG Wei-zhuo;TANG Zheng;SHEN Li-yan;FU Xu;YANG Shen-min;OU Jian(Center for Reproduction and Genetics,The Affiliated Suzhou Hospital of Nanjing Medical University,Suzhou Municipal Hospital,Suzhou 215002,Jiangsu Province,China)

机构地区：[1]南京医科大学附属苏州医院,苏州市立医院生殖与遗传中心,215002

出　　处：《国际生殖健康／计划生育杂志》2023年第3期189-192,共4页Journal of International Reproductive Health/Family Planning

基　　金：姑苏卫生人才项目(GSWS2019053);苏州市临床重点病种资助项目(LCZX202109);苏州市科技计划发展项目(SYSD 2020129);苏州市临床医学中心项目(Szlcyxzx202106)。

摘　　要：目的:探讨常染色体显性遗传多囊肾病(autosomal dominant polycystic kidney disease,ADPKD)合并男性不育患者行植入前遗传学检测(preimplantation genetic testing,PGT)对临床结局的影响。方法:回顾性分析2020年3月—2021年12月南京医科大学附属苏州医院生殖与遗传中心行PGT治疗的7例ADPKD合并男性不育患者的影像学、精子质量、精子超微结构、遗传病因和胚胎植入前遗传学分析的资料。结果:7例患者均表现为少弱精子症,遗传病因均为多囊肾病基因1(polycystic kidney disease,PKD1)杂合突变。多数患者出现生殖道的扩张或囊性病变,患者精子鞭毛超微结构部分出现紊乱。7例患者行辅助生殖后,5例妊娠并成功生育。结论:对ADPKD合并男性不育者,遗传检测可以指导治疗,采用PGT可以改善妊娠结局。Objective:To investigate the clinical outcomes of preimplantation genetic testing(PGT)in patients with autosomal dominant polycystic kidney disease(ADPKD)associated with male infertility.Methods:From March 2020 to December 2021,7 patients with ADPKD associated with male infertility were conducted PGT treatment in the center for reproduction and genetics of the Affiliated Suzhou Hospital of Nanjing Medical University.Data on imaging,sperm quality,sperm ultrastructure,genetic etiology,and preimplantation genetic analysis were retrospectively analyzed.Results:All 7 patients showed different degrees of oligozoospermia,and the PKD1 gene heterozygous mutation.The majority of patients showed dilatation or cystic lesions of the reproductive tract,and the disturbed partially ultrastructure of sperm flagellum.Five clinical pregnancies and successful births were achieved after assisted reproduction in 7 patients.Conclusions:The results of genetic testing can guide the treatment in patients with ADPKD associated with male infertility,and PGT can improve pregnancy outcomes.

关 键 词：多囊肾 常染色体显性 不育 男(雄)性 植入前诊断 基因检测 精子形态 

分 类 号：R698.2[医药卫生—泌尿科学] R692[医药卫生—外科学]