先天性肾衰竭——急性肾损伤还是慢性肾脏病？答案。 - Suppr

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超能文献

Renal failure from birth-AKI or CKD? Answers.

作者信息

Carter Sean, Dixit Abhijit, Lunn Andrew, Deorukhkar Anjum, Christian Martin

机构信息

School of Medicine, University of Nottingham, Nottingham, UK.

Nottingham Children's Hospital, Nottingham University Hospitals NHS Trust, Derby Road, Nottingham, NG7 2UH, UK.

出版信息

Pediatr Nephrol. 2016 Dec;31(12):2259-2262. doi: 10.1007/s00467-016-3332-6. Epub 2016 Feb 18.

DOI:10.1007/s00467-016-3332-6

PMID:26891727

Abstract

摘要

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本文引用的文献

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Genotype-phenotype associations in WT1 glomerulopathy.WT1 肾小球病的基因型-表型相关性。

Kidney Int. 2014 May;85(5):1169-78. doi: 10.1038/ki.2013.519. Epub 2014 Jan 8.

Refractory hypotension after bilateral nephrectomies in a Denys-Drash patient with phenylketonuria.苯丙酮尿症患者双侧肾切除术后顽固性低血压。

Pediatr Nephrol. 2013 Feb;28(2):345-8. doi: 10.1007/s00467-012-2311-9. Epub 2012 Sep 20.

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.

Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms' tumor 1 (WT1) gene.由于 Wilms' 肿瘤 1 （WT1）基因突变导致的类固醇抵抗型肾病综合征的希腊儿童中广泛而意外的表型表达。

Eur J Pediatr. 2011 Dec;170(12):1529-34. doi: 10.1007/s00431-011-1450-5. Epub 2011 Apr 16.

Fetal Pediatr Pathol. 2011;30(4):266-72. doi: 10.3109/15513815.2011.555814. Epub 2011 Mar 24.

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.

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.非芬兰型先天性肾病综合征的基因型-表型相关性。

J Am Soc Nephrol. 2010 Jul;21(7):1209-17. doi: 10.1681/ASN.2009121309. Epub 2010 May 27.

Am J Med Genet A. 2008 Feb 15;146A(4):496-9. doi: 10.1002/ajmg.a.32168.

WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations.米查姆综合征中的WT1突变提示心脏和膈肌畸形起源于体腔间皮。

Am J Med Genet A. 2007 Oct 1;143A(19):2312-20. doi: 10.1002/ajmg.a.31924.

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