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Successful living-related kidney transplantation in MYH9-related disorder with macrothrombocytopenia: lessons for the clinical nephrologist.

作者信息

Li Xue, Wang Wei, Ni Xuefeng, Cheng Dongrui, Chen Jinsong

机构信息

National Clinical Research Center for Kidney Diseases, Jinling Hospital, Medical School of Nanjing University, Nanjing, China.

Department of Nephrology, Shanghai Tenth People's Hospital, Shanghai, China.

出版信息

J Nephrol. 2023 Jul;36(6):1707-1709. doi: 10.1007/s40620-023-01651-7. Epub 2023 May 31.

DOI:10.1007/s40620-023-01651-7
PMID:37258992
Abstract
摘要

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Successful living-related kidney transplantation in MYH9-related disorder with macrothrombocytopenia: lessons for the clinical nephrologist.MYH9相关疾病伴巨大血小板减少症患者成功进行亲属活体肾移植：给临床肾科医生的经验教训
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HNO. 2013 Feb;61(2):159-60, 162-5. doi: 10.1007/s00106-012-2521-2.
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本文引用的文献

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Reduced platelet forces underlie impaired hemostasis in mouse models of -related disease.在与 - 相关疾病的小鼠模型中，血小板力降低是止血功能受损的基础。
Sci Adv. 2022 May 20;8(20):eabn2627. doi: 10.1126/sciadv.abn2627. Epub 2022 May 18.
2
Management of patients with severe Epstein syndrome: Review of four patients who received living-donor renal transplantation.重症爱泼斯坦综合征患者的管理：4例接受活体供肾移植患者的回顾
Nephrology (Carlton). 2019 Apr;24(4):450-455. doi: 10.1111/nep.13253.
3
Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders.
法国大型 MYH9 相关疾病队列的突变谱和基因型-表型相关性研究。
Mol Genet Genomic Med. 2014 Jul;2(4):297-312. doi: 10.1002/mgg3.68. Epub 2014 Feb 7.
4
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.ACMG 临床外显子组和基因组测序中偶然发现报告的推荐标准。
Genet Med. 2013 Jul;15(7):565-74. doi: 10.1038/gim.2013.73. Epub 2013 Jun 20.
5
Renal manifestations of patients with MYH9-related disorders.患者 MYH9 相关疾病的肾脏表现。
Pediatr Nephrol. 2011 Apr;26(4):549-55. doi: 10.1007/s00467-010-1735-3. Epub 2011 Jan 6.
6
ABO-incompatible renal transplantation in Epstein syndrome.爱泼斯坦综合征的 ABO 不相容性肾移植。
Clin Transplant. 2010 Jul;24 Suppl 22:31-4. doi: 10.1111/j.1399-0012.2010.01274.x.
7
Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease.患有 Epstein-Fechtner 综合征的患者因 MYH9 R702 突变而出现进行性蛋白尿性肾脏疾病。
Kidney Int. 2010 Jul;78(2):207-14. doi: 10.1038/ki.2010.21. Epub 2010 Mar 3.
8
Potential donor-recipient MYH9 genotype interactions in posttransplant nephrotic syndrome after pediatric kidney transplantation.小儿肾移植后移植后肾病综合征中潜在的供体-受体MYH9基因分型相互作用
Am J Transplant. 2009 Oct;9(10):2435-40. doi: 10.1111/j.1600-6143.2009.02806.x.
9
Successful renal transplantation for Epstein syndrome.
Am J Hematol. 1986 Jan;21(1):111-3. doi: 10.1002/ajh.2830210113.