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Birth of two healthy girls following preimplantation genetic diagnosis and gestational surrogacy in a rapidly progressive autosomal dominant polycystic kidney disease case using tolvaptan.

作者信息

Peces Ramón, Mena Rocío, Peces Carlos, Cuesta Emilio, Lapunzina Pablo, Selgas Rafael, Nevado Julián

机构信息

Servicio de Nefrología, Hospital Universitario La Paz, IdiPAZ, Universidad Autónoma, Madrid, Spain.

Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma, Madrid, Spain.

出版信息

Clin Kidney J. 2021 Apr 25;14(8):1987-1989. doi: 10.1093/ckj/sfab082. eCollection 2021 Aug.

DOI:10.1093/ckj/sfab082
PMID:34345424
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8323138/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e965/8323138/42bb6a6e8f18/sfab082f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e965/8323138/42bb6a6e8f18/sfab082f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e965/8323138/42bb6a6e8f18/sfab082f1.jpg

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本文引用的文献

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Preimplantation Genetic Testing for Monogenic Kidney Disease.胚胎植入前遗传学检测用于单基因肾脏疾病。
Clin J Am Soc Nephrol. 2020 Sep 7;15(9):1279-1286. doi: 10.2215/CJN.03550320. Epub 2020 Aug 27.
2
The value of genotypic and imaging information to predict functional and structural outcomes in ADPKD.基因型和影像学信息在预测 ADPKD 功能和结构结局中的价值。
JCI Insight. 2020 Aug 6;5(15):138724. doi: 10.1172/jci.insight.138724.
3
Combined Preimplantation Genetic Testing for Autosomal Dominant Polycystic Kidney Disease: Consequences for Embryos Available for Transfer.
常染色体显性遗传性多囊肾病的联合植入前遗传学检测：对可用于移植的胚胎的影响。
Genes (Basel). 2020 Jun 24;11(6):692. doi: 10.3390/genes11060692.
4
Management of Autosomal Dominant Polycystic Kidney Disease (ADPKD) During Pregnancy: Risks and Challenges.妊娠期间常染色体显性多囊肾病（ADPKD）的管理：风险与挑战
Int J Womens Health. 2020 May 25;12:409-422. doi: 10.2147/IJWH.S204997. eCollection 2020.
5
Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease.影响多囊肾病胚胎植入前遗传学检测临床结局的因素。
Hum Reprod. 2019 May 1;34(5):949-958. doi: 10.1093/humrep/dez027.
6
A Practical Guide for Treatment of Rapidly Progressive ADPKD with Tolvaptan.托伐普坦治疗快速进展型常染色体显性多囊肾病的实用指南。
J Am Soc Nephrol. 2018 Oct;29(10):2458-2470. doi: 10.1681/ASN.2018060590. Epub 2018 Sep 18.
7
Preimplantation Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease Applied in China.常染色体显性多囊肾病的植入前基因诊断在中国的应用
Am J Kidney Dis. 2018 Nov;72(5):767. doi: 10.1053/j.ajkd.2018.04.017. Epub 2018 Jul 12.
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Preimplantation Genetic Diagnosis Counseling in Autosomal Dominant Polycystic Kidney Disease.常染色体显性遗传性多囊肾病的胚胎植入前遗传学诊断咨询。
Am J Kidney Dis. 2018 Dec;72(6):866-872. doi: 10.1053/j.ajkd.2018.01.048. Epub 2018 Mar 30.
9
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.MALBAC-PGD 筛选的无突变胚胎导致携带 PKD1 突变的家庭健康活产。
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