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2
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
J Nephrol. 2023 Jul;36(6):1707-1709. doi: 10.1007/s40620-023-01651-7. Epub 2023 May 31.
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Successful renal transplantation in MYH9-related disorder with severe macrothrombocytopenia: first report in Korea.MYH9相关疾病伴严重血小板减少症患者成功进行肾移植：韩国首例报告
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[Hereditary thrombocytopenia associated with a mutation in the MYH-9 gene. Report of one case].[与MYH-9基因突变相关的遗传性血小板减少症。1例报告]
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Hemizygosity for the gene encoding glycoprotein Ibβ is not responsible for macrothrombocytopenia and bleeding in patients with 22q11 deletion syndrome.编码糖蛋白 Ibβ 的基因杂合性缺失并非导致 22q11 缺失综合征患者巨血小板减少和出血的原因。
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Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease.一个与DIAPH1相关疾病的大家族中的进行性巨血小板减少症和听力损失
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Epstein syndrome presenting as renal failure in young patients.婴儿型多囊肾（即婴儿型多囊肾病或婴儿型多囊性肾发育不良）合并肾衰竭。
Ren Fail. 2009;31(7):582-5. doi: 10.1080/08860220903033708.
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ACTN1-related Macrothrombocytopenia: A Novel Entity in the Progressing Field of Pediatric Thrombocytopenia.与α-辅肌动蛋白1相关的巨血小板减少症：小儿血小板减少症进展领域中的一种新病症。
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引用本文的文献

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Thrombocytopenia, renal failure and hearing loss in a young patient: -related disorder.一名年轻患者出现血小板减少、肾衰竭和听力丧失：相关疾病。
BMJ Case Rep. 2025 Jun 24;18(6):e262915. doi: 10.1136/bcr-2024-262915.

本文引用的文献

1
MYH9-related disorders display heterogeneous kidney involvement and outcome.与MYH9相关的疾病表现出肾脏受累情况和预后的异质性。
Clin Kidney J. 2018 Dec 17;12(4):494-502. doi: 10.1093/ckj/sfy117. eCollection 2019 Aug.
2
Macrothrombocytopenia, renal dysfunction and nephrotic syndrome in a young male patient: a case report of MYH9-related disease.一名年轻男性患者出现的巨大血小板减少症、肾功能不全和肾病综合征：MYH9相关疾病的病例报告
J Bras Nefrol. 2018 Apr-Jun;40(2):198-200. doi: 10.1590/2175-8239-jbn-3879. Epub 2018 May 17.
3
Successful renal transplantation in MYH9-related disorder with severe macrothrombocytopenia: first report in Korea.MYH9相关疾病伴严重血小板减少症患者成功进行肾移植：韩国首例报告
Transplant Proc. 2014;46(2):654-6. doi: 10.1016/j.transproceed.2013.11.144.
4
Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations.依洛尤单抗治疗来源于 MYH9 突变的遗传性血小板减少症。
Blood. 2010 Dec 23;116(26):5832-7. doi: 10.1182/blood-2010-08-304725. Epub 2010 Sep 15.
5
Epstein syndrome presenting as renal failure in young patients.婴儿型多囊肾（即婴儿型多囊肾病或婴儿型多囊性肾发育不良）合并肾衰竭。
Ren Fail. 2009;31(7):582-5. doi: 10.1080/08860220903033708.
6
Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.非肌肉肌球蛋白重链IIA在人肾脏中的表达及爱泼斯坦综合征和费希特纳综合征中MYH9突变的筛查
J Am Soc Nephrol. 2002 Jan;13(1):65-74. doi: 10.1681/ASN.V13165.

Successful Kidney Transplantation in -Related Disease Presenting with Severe Macrothrombocytopenia.

作者信息

Bülbül Mustafa Cem, Avcı Şahin, Yelken Berna, Koçak Burak, Akay Olga Meltem

机构信息

Koç University Hospital, Clinic of Internal Medicine, İstanbul, Türkiye

Koç University Hospital, Clinic of Medical Genetics, İstanbul, Türkiye

出版信息

Turk J Haematol. 2023 Aug 31;40(3):232-233. doi: 10.4274/tjh.galenos.2023.2023-0138. Epub 2023 Jun 6.

DOI:10.4274/tjh.galenos.2023.2023-0138
PMID:37278342
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10476248/
Abstract
摘要