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。
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.
[1]Gall EC, Alam A, Perrone RD.Autosomal dominant polycystic kidney disease[J].Lancet, 2019, 393(Feb):919-935
[2] Lanktree MB, Haghighi A, Guiard E, et al.Prevalence estimates of polycystic kidney and liver disease by population sequencing.[J].J Am Soc Nephrol, ,2018, 29:2593-2600
[3]Willey CJ, Blais JD, Hall AK，et al.Prevalence of autosomal dominant polycystic kidney disease in the European Union[J].Nephrol Dial Transplant, 2017, 32(Jun):1356-1363
[4]Verlinsky Y, Rechitsky S, Verlinsky O, et al.Preimplantation genetic diagnosis for polycystic kidney disease[J].Fertil Steril, 2004, 82(Oct):926-929
[5]Li W, Ma Y, Yu S, et al.The mutation-free embryo for in vitro fertilization selected by MALBAC-PGD resulted in a healthy live birth from a family carrying PKD 1 mutation[J].J Assist Reprod Genet, 2017, 34(12):1653-1658
[6]阻断 遗传专家共识委员会.应用胚胎植入前遗传学检测技术阻断常染色体显性多囊肾病遗传的中国专家共识[J].中华生殖与避孕杂志, 2019, 39(10):781-787
[7]Snoek R, Stokman MF, Lichtenbelt KD, et al.Preimplantation Genetic Testing for Monogenic Kidney Disease[J].Clin J Am Soc Nephrol, 2020, 15(9):1279-1286
[8]Murphy EL, Droher ML, DiMaio MS, et al.Preimplantation Genetic Diagnosis Counseling in Autosomal Dominant Polycystic Kidney Disease[J].Am J Kidney Dis, 2018, 72(6):866-872
[9]Rechter SD, Kringen J, Janssens P, et al.Clinicians' attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease[J].PLoS One, 2017, 12(9):e0185779-
[10]Capelouto S, Evans M, ShannonJ.Specialist physicians’ referral behavior regarding preimplantation genetic testing for single-gene disorders: Is there room to grow?[J].Fertil Steril Rep, 2021, 2(2):215-223
[11]Sun M, Xue C, Lu Y，et al.The fertility willingness and acceptability of preimplantation genetic testing in Chinese patients with autosomal dominant polycystic kidney disease[J].BMC Nephrology, 2020, 21(1):147-156
[12]Swift O, Vilar E, Rahman B, Side L，et al.Attitudes in Patients with Autosomal Dominant Polycystic Kidney Disease Toward Prenatal Diagnosis and Preimplantation Genetic Diagnosis[J].Genet Test Mol Biomarkers, 2016, 20(12):741-746
[13]Logeman C, Cho Y, Sautenet B, et al.A sword of Damocles’: patient and caregiver beliefs,attitudes and perspectives on presymptomatic testing for autosomal dominant polycystic kidney disease: a focus group study[J].BMJ Open, 2020, 10(10):e038005-
