不同遗传类型多囊肾病的辅助生殖助孕策略  

Assisted reproductive strategies for different genetic types of polycystic kidney disease

作　　者：李快乐 刘芸 LI Kuaile;LIU Yun(Fuzhou General Clinical Medical College,Fujian Medical University,the 90Oth Hospital of the Joint Logistics Support Force,PLA,Fuzhou,Fujian 350025,China;Department of Gynaecology and Obstetrics,Dongfang Hospital Affiliated to Xiamen University,the 900th Hospital of the Joint Logistics Support Force,PLA,Xiamen,Fujian 361000,China;Reproductive Medicine Center,Teaching Hospital of Fujian University of Traditional Chinese Medicine,the 90Oth Hospital of the JointLogistics SupportForce,PLA,Fuzhou,Fujian350025,China)

机构地区：[1]福建医科大学福总临床医学院/中国人民解放军联勤保障部队第九〇〇医院,福建福州350025 [2]厦门大学附属东方医院/中国人民解放军联勤保障部队第九〇〇医院妇产科,福建厦门361000 [3]福建中医药大学福总教学医院/中国人民解放军联勤保障部队第九〇〇医院生殖医学中心,福建福州350025

出　　处：《中国优生与遗传杂志》2022年第12期2253-2257,共5页Chinese Journal of Birth Health & Heredity

基　　金：军队科研课题项目(16JS013)。

摘　　要：目的探讨不同遗传类型和临床表现的多囊肾病(PKD)合并不孕症患者,通过辅助生殖技术或胚胎植入前遗传学检测(PGT)获得子代的策略选择。方法回顾2016—2021年中国人民解放军联勤保障部队第九〇〇医院生殖医学中心共8例多囊肾病或多囊肾隐性基因携带者的临床资料,分析其基因检测结果及相应的辅助生殖助孕结局。结果5例明确为常染色体显性遗传性多囊肾(ADPKD)基因诊断,1例未明确基因诊断,2例明确为常染色体隐性遗传性多囊肾(ARPKD)基因诊断,其中有6例选择植入前单基因检测(PGT-M)或植入前非整倍体检测(PGT-A)助孕,另2例仅选择卵胞质内单精子显微注射(ICSI)助孕。结论致病基因诊断明确的ADPKD患者,可考虑选择PGT-M技术干预PKD家族遗传,ARPKD患者建议行PGT-M助孕获得健康子代;致病基因诊断不明确PKD患者,无PGT-M应用适应证,建议加强孕期产检及产前筛查。Objective To investigate infertility patients with polycystic kidney disease(PKD) with different genetic types and clinica manifestations, the progeny strategy is selected through assisted reproductive technology or preimplantation genetic testing(PGT). Methods The clinical data of 8 patients with PKD or polycystic kidney recessive gene carriers in the 900th Hospital of the Joint Logistics Support Force, PLA reproductive Medicine Center from 2016—2021 were reviewed, the results of gene detection and the outcome of assisted reproduction were analyzed. Results Five cases were genetic diagnosed as autosomal dominant polycystic kidney disease(ADPKD), one case was not confirmed, two cases were genetic diagnosed as autosomal recessive polycystic kidney disease(ARPKD), six of them chose PGT for monogenic/single gene defects(PGT-M)or PGT for aneuploidies(PGT-A) to assisted reproduction, the other two cases only chose intracytopalstic sperm injection(ICSI) to assisted reproduction. Conclusion ADPKD patients with clear genetic diagnosis, PGT-M technique can be used to intervene PKD family inheritance, ARPKD patients with clear genetic diagnosis are advised to receive PGT-M for pregnancy assistance to obtain healthy offspring. PKD patients with unclear pathogenic gene diagnosis had no indication for PGT-M application, it is suggested to strengthen prenatal examination and prenatal screening.

关 键 词：不孕症 多囊肾病 基因诊断 辅助生殖技术 胚胎植入前遗传学检测 

分 类 号：R692[医药卫生—泌尿科学] R714.8[医药卫生—外科学]