|
常染色体显性遗传性多囊肾患者妊娠后影响及治疗研究进展
|
Abstract:
常染色体显性遗传性多囊肾(ADPKD)是一种常见的肾脏遗传病,为单基因遗传,以双侧肾囊肿为特征,导致肾功能进行性下降。近年来基因检测技术和一些新药物的使用,使得ADPKD的管理取得了长足进步。但作为最常见的单基因遗传性肾病ADPKD患者的发病年龄与育龄期妇女高度重合,母亲和婴儿的妊娠结局与普通人群不同,妊娠并发症的长期后果在ADPKD中也很常见。本文将对ADPKD患者妊娠后的影响、妊娠期间的多方面治疗与管理进行综述。
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a prevalent genetic kidney disorder inherited through a single gene, characterized by bilateral renal cysts that lead to a progressive decline in renal function. Recent advancements in genetic testing technology and the introduction of novel medications have significantly improved the management of ADPKD. However, as the most prevalent monogenic inherited kidney disease, ADPKD patients often experience onset during childbearing age, leading to distinctive pregnancy outcomes for both mothers and infants compared to the general population. Additionally, long-term consequences of pregnancy complications are common in ADPKD. This review aims to outline the impact of pregnancy on ADPKD patients and explore multiple treatment and management strategies during pregnancy.
[1] | Lanktree, M.B., Haghighi, A., di Bari, I., Song, X. and Pei, Y. (2021) Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies. Clinical Journal of the American Society of Nephrology, 16, 790-799. https://doi.org/10.2215/cjn.02320220 |
[2] | Reiterová, J. and Tesař, V. (2022) Autosomal Dominant Polycystic Kidney Disease: From Pathophysiology of Cystogenesis to Advances in the Treatment. International Journal of Molecular Sciences, 23, Article 3317. https://doi.org/10.3390/ijms23063317 |
[3] | Taber-Hight, E. and Shah, S. (2020) Acute Kidney Injury in Pregnancy. Advances in Chronic Kidney Disease, 27, 455-460. https://doi.org/10.1053/j.ackd.2020.06.002 |
[4] | Morton, A. (2021) Physiological Changes and Cardiovascular Investigations in Pregnancy. Heart, Lung and Circulation, 30, e6-e15. https://doi.org/10.1016/j.hlc.2020.10.001 |
[5] | McBride, L., Wilkinson, C. and Jesudason, S. (2020) Management of Autosomal Dominant Polycystic Kidney Disease (ADPKD) during Pregnancy: Risks and Challenges. International Journal of Women’s Health, 12, 409-422. https://doi.org/10.2147/ijwh.s204997 |
[6] | Vora, N., Perrone, R. and Bianchi, D.W. (2008) Reproductive Issues for Adults with Autosomal Dominant Polycystic Kidney Disease. American Journal of Kidney Diseases, 51, 307-318. https://doi.org/10.1053/j.ajkd.2007.09.010 |
[7] | Hladunewich, M.A. (2017) Chronic Kidney Disease and Pregnancy. Seminars in Nephrology, 37, 337-346. https://doi.org/10.1016/j.semnephrol.2017.05.005 |
[8] | Dvořák, J., Koucký, M., Jančová, E., Mysliveček, M., Tesař, V. and Pařízek, A. (2021) Chronic Kidney Disease and Pregnancy Outcomes. Scientific Reports, 11, Article No. 21299. https://doi.org/10.1038/s41598-021-00670-3 |
[9] | Cabiddu, G., Castellino, S., Gernone, G., Santoro, D., Moroni, G., Giannattasio, M., et al. (2016) A Best Practice Position Statement on Pregnancy in Chronic Kidney Disease: The Italian Study Group on Kidney and Pregnancy. Journal of Nephrology, 29, 277-303. https://doi.org/10.1007/s40620-016-0285-6 |
[10] | Wu, M., Wang, D., Zand, L., Harris, P.C., White, W.M., Garovic, V.D., et al. (2015) Pregnancy Outcomes in Autosomal Dominant Polycystic Kidney Disease: A Case-Control Study. The Journal of Maternal-Fetal & Neonatal Medicine, 29, 807-812. https://doi.org/10.3109/14767058.2015.1019458 |
[11] | Schrier, R.W., Brosnahan, G., Cadnapaphornchai, M.A., Chonchol, M., Friend, K., Gitomer, B., et al. (2014) Predictors of Autosomal Dominant Polycystic Kidney Disease Progression. Journal of the American Society of Nephrology, 25, 2399-2418. https://doi.org/10.1681/asn.2013111184 |
[12] | Steele, C.N. and Nowak, K.L. (2023) Nonpharmacological Management of Autosomal Dominant Polycystic Kidney Disease. Advances in Kidney Disease and Health, 30, 220-227. https://doi.org/10.1053/j.akdh.2022.12.008 |
[13] | Theivendran, T., Ramachandran, A. and Rangan, G. (2022) Drug Management of Autosomal Dominant Polycystic Kidney Disease. Australian Prescriber, 45, 167-170. https://doi.org/10.18773/austprescr.2022.052 |
[14] | Chebib, F.T. and Torres, V.E. (2018) Recent Advances in the Management of Autosomal Dominant Polycystic Kidney Disease. Clinical Journal of the American Society of Nephrology, 13, 1765-1776. https://doi.org/10.2215/cjn.03960318 |
[15] | Abe, M., Arima, H., Yoshida, Y., Fukami, A., Sakima, A., Metoki, H., et al. (2022) Optimal Blood Pressure Target to Prevent Severe Hypertension in Pregnancy: A Systematic Review and Meta-Analysis. Hypertension Research, 45, 887-899. https://doi.org/10.1038/s41440-022-00853-z |
[16] | Tita, A.T., Szychowski, J.M., Boggess, K., Dugoff, L., Sibai, B., Lawrence, K., et al. (2022) Treatment for Mild Chronic Hypertension during Pregnancy. New England Journal of Medicine, 386, 1781-1792. https://doi.org/10.1056/nejmoa2201295 |
[17] | 孟丹, 李俊峡, 曹雪滨, 等. 妊娠期高血压治疗中降压药物的应用进展[J]. 中国循证心血管医学杂志, 2021, 13(2): 254-256. |
[18] | 刘丽冰, 王思慧, 刘红, 等. 妊娠合并IgA肾病的研究进展[J]. 浙江医学, 2021, 43(15): 1702-1706. |
[19] | Müller, R., Messchendorp, A.L., Birn, H., Capasso, G., Cornec-Le Gall, E., Devuyst, O., et al. (2021) An Update on the Use of Tolvaptan for Autosomal Dominant Polycystic Kidney Disease: Consensus Statement on Behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International. Nephrology Dialysis Transplantation, 37, 825-839. https://doi.org/10.1093/ndt/gfab312 |
[20] | Mekahli, D., Guay-Woodford, L.M., Cadnapaphornchai, M.A., Greenbaum, L.A., Litwin, M., Seeman, T., et al. (2023) Tolvaptan for Children and Adolescents with Autosomal Dominant Polycystic Kidney Disease: Randomized Controlled Trial. Clinical Journal of the American Society of Nephrology, 18, 36-46. https://doi.org/10.2215/cjn.0000000000000022 |
[21] | 托伐普坦治疗快速进展型常染色体显性多囊肾病专家组. 托伐普坦治疗快速进展型常染色体显性多囊肾病中国专家共识[J]. 中华肾脏病杂志, 2022, 38(7): 644-652. |
[22] | Daneshgar, N., Liang, P., Lan, R.S., Horstmann, M.M., Pack, L., Bhardwaj, G., et al. (2022) Elamipretide Treatment during Pregnancy Ameliorates the Progression of Polycystic Kidney Disease in Maternal and Neonatal Mice with PKD1 Mutations. Kidney International, 101, 906-911. https://doi.org/10.1016/j.kint.2021.12.006 |
[23] | 吴晓蓉, 周威, 程红娟, 等. 常染色体显性遗传性多囊肾病临床及基因突变分析[J]. 中国优生与遗传杂志, 2022, 30(11): 2027-2030. |
[24] | Sciorio, R., Aiello, R. and Irollo, A.M. (2021) Review: Preimplantation Genetic Diagnosis (PGD) as a Reproductive Option in Patients with Neurodegenerative Disorders. Reproductive Biology, 21, Article ID: 100468. https://doi.org/10.1016/j.repbio.2020.100468 |
[25] | 宋菲. 遗传性多囊肾病的遗传学分析及出生缺陷阻断研究[D]: [硕士学位论文]. 合肥: 安徽医科大学, 2021. |
[26] | Murphy, E.L., Droher, M.L., DiMaio, M.S. and Dahl, N.K. (2018) Preimplantation Genetic Diagnosis Counseling in Autosomal Dominant Polycystic Kidney Disease. American Journal of Kidney Diseases, 72, 866-872. https://doi.org/10.1053/j.ajkd.2018.01.048 |
[27] | Zhou, C., Mei, C. and Xue, C. (2018) Preimplantation Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease Applied in China. American Journal of Kidney Diseases, 72, 767. https://doi.org/10.1053/j.ajkd.2018.04.017 |
[28] | 刘家柳, 陈意欣, 徐艳文. 中国大陆胚胎植入前遗传学检测发展历程与技术贡献[J]. 中国计划生育和妇产科, 2023, 15(11): 3-5. |
[29] | Chaperon, J.L., Wemmer, N.M., McKanna, T.A., Clark, D.M., Westemeyer, M.A., Gauthier, P., et al. (2021) Preimplantation Genetic Testing for Kidney Disease-Related Genes: A Laboratory’s Experience. American Journal of Nephrology, 52, 684-690. https://doi.org/10.1159/000518253 |
[30] | Sun, M., Xue, C., Lu, Y., Ma, Y., Pan, T., Wang, X., et al. (2020) The Fertility Willingness and Acceptability of Preimplantation Genetic Testing in Chinese Patients with Autosomal Dominant Polycystic Kidney Disease. BMC Nephrology, 21, Article No. 147. https://doi.org/10.1186/s12882-020-01785-x |
[31] | Berckmoes, V., Verdyck, P., De Becker, P., De Vos, A., Verheyen, G., Van der Niepen, P., et al. (2019) Factors Influencing the Clinical Outcome of Preimplantation Genetic Testing for Polycystic Kidney Disease. Human Reproduction, 34, 949-958. https://doi.org/10.1093/humrep/dez027 |
[32] | Chebib, F.T., Nowak, K.L., Chonchol, M.B., Bing, K., Ghanem, A., Rahbari-Oskoui, F.F., et al. (2023) Polycystic Kidney Disease Diet: What Is Known and What Is Safe. Clinical Journal of the American Society of Nephrology, 19, 664-682. https://doi.org/10.2215/cjn.0000000000000326 |