环孢素 A 对 WT1 突变相关肾小球病蛋白尿的影响。
Effect of cyclosporin A on proteinuria in the course of glomerulopathy associated with WT1 mutations.
机构信息
Department of Paediatrics and Nephrology, Medical University of Białystok, ul. Waszyngtona 17, 15-274 Białystok, Poland.
出版信息
Eur J Pediatr. 2011 Mar;170(3):389-91. doi: 10.1007/s00431-010-1278-4. Epub 2010 Sep 17.
Abstract
Denys-Drash syndrome (DDS) is characterized by progressive glomerulopathy caused by diffuse mesangial sclerosis (DMS), genitourinary defects, and a higher risk of developing Wilms' tumor. It is commonly assumed that the DMS is unresponsive to any medications. In this report, we present a patient with Denys-Drash syndrome, in whom the cyclosporine A (CsA) was found to induce total remission. This observation and observations of other authors confirm that in genetic forms of nephrotic syndrome, the proteinuric effect of CsA may be due to a non-immunologic mechanism. We confirm the beneficial effect of CsA treatment in DDS; however, the potential nephrotoxicity of this drug will probably not allow long-term use.
摘要
Denys-Drash 综合征（DDS）的特征是弥漫性系膜硬化（DMS）引起的进行性肾小球病、泌尿生殖系统缺陷以及Wilms 瘤发生风险增加。通常认为 DMS 对任何药物均无反应。在本报告中，我们介绍了一位患有 Denys-Drash 综合征的患者，发现环孢素 A（CsA）可诱导完全缓解。这一观察结果以及其他作者的观察结果证实，在遗传性肾病综合征中，CsA 的蛋白尿效应可能归因于非免疫机制。我们证实了 CsA 治疗 DDS 的有益效果；然而，该药物的潜在肾毒性可能不允许长期使用。
相似文献
1
Effect of cyclosporin A on proteinuria in the course of glomerulopathy associated with WT1 mutations.环孢素 A 对 WT1 突变相关肾小球病蛋白尿的影响。
Eur J Pediatr. 2011 Mar;170(3):389-91. doi: 10.1007/s00431-010-1278-4. Epub 2010 Sep 17.
2
[Clinical and pathological features of Denys-Drash syndrome: report of 3 cases].[迪尼-德拉斯综合征的临床与病理特征：3例报告]
Zhonghua Er Ke Za Zhi. 2012 Nov;50(11):855-8.
3
The podocyte as a target: cyclosporin A in the management of the nephrotic syndrome caused by WT1 mutations.足细胞作为靶点：环孢素 A 在 WT1 突变引起的肾病综合征中的治疗作用。
Eur J Pediatr. 2011 Nov;170(11):1377-83. doi: 10.1007/s00431-011-1397-6. Epub 2011 Feb 8.
4
A novel WT1 gene mutation in a newborn infant diagnosed with Denys-Drash syndrome.一名被诊断为迪尼斯-德拉斯综合征的新生儿中发现的一种新型WT1基因突变。
Genet Couns. 2012;23(2):255-61.
5
Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome.基于长期保存组织对先天性肾病综合征诊断的优化：c.1097G>A（p.(Arg366His)）WT1突变导致迪尼-德拉斯综合征
Fetal Pediatr Pathol. 2016;35(2):112-9. doi: 10.3109/15513815.2016.1139018. Epub 2016 Feb 16.
6
Focal Segmental Membranoproliferative Glomerulonephritis: A Histological Variant of Denys-Drash Syndrome.局灶节段性膜增生性肾小球肾炎：Denys-Drash 综合征的一种组织学变异型。
Fetal Pediatr Pathol. 2021 Apr;40(2):113-120. doi: 10.1080/15513815.2019.1686788. Epub 2019 Nov 9.
7
Hemolytic uremic syndrome as the presenting manifestation of WT1 mutation and Denys-Drash syndrome: a case report.以溶血尿毒综合征为首发表现的WT1突变及迪尼-德拉斯综合征：一例报告
BMC Nephrol. 2017 Jul 18;18(1):243. doi: 10.1186/s12882-017-0643-1.
8
The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome.与德尼-德拉什综合征相关的新型WT1基因突变p.H377N。
J Pediatr Hematol Oncol. 2010 Aug;32(6):486-8. doi: 10.1097/MPH.0b013e3181e5e20d.
9
Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome.病例报告：一名患有迪尼斯-德拉斯综合征的患者出现WT1基因外显子6截断突变及生殖器模糊不清的情况。
Curr Opin Pediatr. 2008 Feb;20(1):103-6. doi: 10.1097/MOP.0b013e3282f357eb.
10
Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.两名中国儿童 WT1 相关 Denys-Drash 综合征的临床图像和新型突变。
Ren Fail. 2011;33(9):910-4. doi: 10.3109/0886022X.2011.605528. Epub 2011 Aug 18.
引用本文的文献
1
Isolated steroid-resistant nephrotic syndrome in a Chinese child carrying a de novo mutation in WT1 gene:a case report and literature review.WT1 基因新突变致中国孤立型激素耐药性肾病综合征 1 例报告并文献复习
BMC Pediatr. 2022 Jun 16;22(1):349. doi: 10.1186/s12887-022-03358-3.
2
Current understandings in treating children with steroid-resistant nephrotic syndrome.治疗类固醇抵抗型肾病综合征患儿的最新认识。
Pediatr Nephrol. 2021 Apr;36(4):747-761. doi: 10.1007/s00467-020-04476-9. Epub 2020 Feb 21.
3
Molecular stratification of idiopathic nephrotic syndrome.特发性肾病综合征的分子分层。
Nat Rev Nephrol. 2019 Dec;15(12):750-765. doi: 10.1038/s41581-019-0217-5. Epub 2019 Oct 25.
4
Treatment of steroid-resistant nephrotic syndrome in the genomic era.基因组时代激素抵抗型肾病综合征的治疗。
Pediatr Nephrol. 2019 Nov;34(11):2279-2293. doi: 10.1007/s00467-018-4093-1. Epub 2018 Oct 2.
5
Treatment of Genetic Forms of Nephrotic Syndrome.遗传性肾病综合征的治疗
Front Pediatr. 2018 Mar 26;6:72. doi: 10.3389/fped.2018.00072. eCollection 2018.
6
Monogenic Causes of Proteinuria in Children.儿童蛋白尿的单基因病因
Front Med (Lausanne). 2018 Mar 12;5:55. doi: 10.3389/fmed.2018.00055. eCollection 2018.
7
Application of next-generation sequencing technology to diagnosis and treatment of focal segmental glomerulosclerosis.下一代测序技术在局灶节段性肾小球硬化诊断与治疗中的应用。
Clin Exp Nephrol. 2018 Jun;22(3):491-500. doi: 10.1007/s10157-017-1449-y. Epub 2017 Jul 27.
8
Translating genetic findings in hereditary nephrotic syndrome: the missing loops.遗传性肾病综合征中基因研究结果的转化：缺失的环节。
Am J Physiol Renal Physiol. 2015 Jul 1;309(1):F24-8. doi: 10.1152/ajprenal.00683.2014. Epub 2015 Mar 25.
9
Genetic testing in nephrotic syndrome--challenges and opportunities.遗传性肾病综合征的基因检测：挑战与机遇。
Nat Rev Nephrol. 2013 Mar;9(3):179-84. doi: 10.1038/nrneph.2012.286. Epub 2013 Jan 15.
10
Pediatrics: When should children surviving a Wilms tumor be transplanted?儿科学：肾母细胞瘤幸存者何时应接受移植？
Nat Rev Nephrol. 2012 Jun 12;8(8):443-4. doi: 10.1038/nrneph.2012.138.
本文引用的文献
1
Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations.WT1 基因突变导致的肾病综合征的基因型/表型相关性。
Clin J Am Soc Nephrol. 2010 Sep;5(9):1655-62. doi: 10.2215/CJN.09351209. Epub 2010 Jul 1.
2
Non-immunologic mechanisms of calcineurin inhibitors explain its antiproteinuric effects in genetic glomerulopathies.非免疫机制的钙调磷酸酶抑制剂解释了其在遗传性肾小球疾病中的抗蛋白尿作用。
Pediatr Nephrol. 2010 Jul;25(7):1197-9. doi: 10.1007/s00467-010-1469-2. Epub 2010 Mar 2.
3
Successful treatment of steroid-resistant nephrotic syndrome associated with WT1 mutations.成功治疗与 WT1 突变相关的激素抵抗性肾病综合征。
Pediatr Nephrol. 2010 Jul;25(7):1285-9. doi: 10.1007/s00467-010-1468-3. Epub 2010 Feb 27.
4
Proteinuria: an enzymatic disease of the podocyte?蛋白尿：足细胞的酶性疾病？
Kidney Int. 2010 Apr;77(7):571-80. doi: 10.1038/ki.2009.424. Epub 2009 Nov 18.
5
Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation.一名因NPHS2突变导致肾病综合征的患者使用环孢素A后达到部分缓解。
Pediatr Nephrol. 2009 Oct;24(10):2051-3. doi: 10.1007/s00467-009-1211-0. Epub 2009 Jun 3.
6
Treatment of focal segmental glomerulosclerosis with immunophilin modulation: when did we stop thinking about pathogenesis?通过免疫亲和素调节治疗局灶节段性肾小球硬化：我们何时停止思考发病机制？
Kidney Int. 2009 Sep;76(5):487-91. doi: 10.1038/ki.2009.204. Epub 2009 Jun 3.
7
The actin cytoskeleton of kidney podocytes is a direct target of the antiproteinuric effect of cyclosporine A.肾足细胞的肌动蛋白细胞骨架是环孢素A抗蛋白尿作用的直接靶点。
Nat Med. 2008 Sep;14(9):931-8. doi: 10.1038/nm.1857.
8
WT1 gene mutations in three girls with nephrotic syndrome.三名肾病综合征女孩的WT1基因突变
Eur J Pediatr. 2008 May;167(5):579-81. doi: 10.1007/s00431-007-0514-z. Epub 2007 Jun 1.
9
Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).一岁以内的肾病综合征：三分之二的病例由4个基因（NPHS1、NPHS2、WT1和LAMB2）的突变引起。
Pediatrics. 2007 Apr;119(4):e907-19. doi: 10.1542/peds.2006-2164. Epub 2007 Mar 19.
10
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.定位克隆揭示了PLCE1基因中的突变，该突变导致一种可能可逆的肾病综合征变体。
Nat Genet. 2006 Dec;38(12):1397-405. doi: 10.1038/ng1918. Epub 2006 Nov 5.
Zotero 插件