中国血液净化

中国血液净化 ›› 2022, Vol. 21 ›› Issue (08): 584-587.doi: 10.3969/j.issn.1671-4091.2022.08.010

• 临床研究 • 上一篇    下一篇

透析ADPKD家庭成员对阻断基因病的意愿调查

吴明洪    刘  悦     朱博韬     王  悦     智  旭    杨  洁    郑丹侠   

  1. 100191 北京，北京大学第三医院 1肾内科 2生殖医学科 
    100096 北京，3北京积水潭医院肾内科

  • 收稿日期:2022-01-20 修回日期:2022-03-25 出版日期:2022-08-12 发布日期:2022-08-12
  • 通讯作者: 郑丹侠 E-mail:dxzheng@sina.com
  • 基金资助:
    北京市海淀区预防医学会(2018HDPMA16)

A survey on the willingness to block the genetic disease in the family members of dialysis ADPKD patients 

WU Ming-hong, LIU Yue, ZHU Bo-tao, WANG Yue, ZHI Xu, YANG Jie, ZHENG Dan-xia   

  1. Department of Nephrology and  2Department of Reproductive Medicine, Peking University Third Hospital, Beijing 100191, China; 3Department of Nephrology, Beijing Jishuitan Hospital, Beijing 100096, China 
  • Received:2022-01-20 Revised:2022-03-25 Online:2022-08-12 Published:2022-08-12
  • Contact: ZHENG Dan-xia E-mail:dxzheng@sina.com

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摘要： 目的 调查常染色体显性多囊性肾病(autosomal dominant polycystic kidney disease，ADPKD)育龄家庭成员对辅助生殖阻断家族病的知晓率及意愿并进行科普宣传。 方法  通过血液或腹膜透析中心或者肾内科寻找病因为ADPKD的透析患者，对其家族18～45岁的家族成员进行问卷调查，科普，再次问卷调查。 结果 共40人完成全程问卷，男18例，女22例；年龄(33.4±6.8)岁；已确诊ADPKD 30例。ADPKD近年进展较快的知识知晓率在本次科普后提高，如在肾囊肿前有早期诊断手段从57.5%到95.0%(χ2=15.531，P＜0.001)，生殖干预有助于繁育健康子代从55.0%到92.5%(χ2=14.526，P＜0.001)。调查者对ADPKD易伴发多囊肝、腰痛、ADPKD的遗传方式和遗传概率知晓率在科普前已经＞80%；对基因检测及胚胎植入前遗传学检测(preimplantation genetic testing，PGT)接受度85%以上，本科普将自我评价了解基因检测从57.5%提高到85.0%(χ2=7.384，P=0.007)，将自我评价了解PGT从52.5%提高到77.5%(χ2=5.495，P=0.019)。 结论 本研究尝试以透析中心的ADPKD患者作为源头开展ADPKD的精准生殖阻断科普教育，为后续肾内医生及透析护士参与“预防ADPKD”提供经验。

关键词: 常染色体显性多囊性肾病, 科学普及, 早期诊断, 基因阻断, 意愿

Abstract: Objective  To investigate the awareness and willingness to block the genetic disease by assisted reproduction technology in the family members of autosomal dominant polycystic kidney disease (ADPKD) patients, and the effect of education about genetic disease and reproductive intervention technology to these family members.  Methods  The ADPKD patients on dialysis were recruited from blood or peritoneal dialysis centers. Their family members aged 18-45 years old were surveyed by questionnaire, and re-surveyed after giving them genetic disease and reproductive intervention education.  Results  The whole questionnaire was completed in 40 family members, in which 18 were males and 22 were females with the mean age of 33.4±6.8 years, and 30 family members were diagnosed as ADPKD patients. After the genetic disease and reproductive intervention education, the awareness of ADPKD knowledge in these family members improved, the awareness rate of early diagnosis before renal cysts increased from 57.5% to 95.0% (c2=15.531, P＜0.001), and that of the possibility to breed healthy offspring by reproductive intervention increased from 55.0% to 92.5% (c2=14.526, P＜0.001). The awareness rate of the polycystic liver, waist pain, and hereditary pattern of ADPKD was >80% before the education. The acceptance rate of genetic testing and preimplantation genetic testing (PGT) was >85%. After the education, the rate of self-assessed understanding about genetic testing increased from 57.5% to 85.0% (c2=7.384, P=0.007), and the rate of self-assessed understanding about PGT increased from 52.5% to 77.5% (c2=5.495, P=0.019).  Conclusion  To effectively block the transmission of ADPKD by reproduction intervention, the advanced genetic counseling education in this study was precisely focused on the family members of dialysis ADPKD patients. Our results provide useful experiences of ADPKD prevention for nephrologists and dialysis nurses. 

Key words: Autosomal dominant polycystic kidney disease, Popular science, Early diagnosis, Blockage of gene mutation, Willingness

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