Pierson syndrome - a rare cause of congenital nephrotic syndrome. - Suppr

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Pierson syndrome - a rare cause of congenital nephrotic syndrome.

作者信息

Lionel Arul Premanand, Joseph Leni Kumar, Simon Anna

机构信息

Department of Pediatrics Unit 1, Christian Medical College and Hospital, Vellore, Tamil Nadu, 632004, India,

出版信息

Indian J Pediatr. 2014 Dec;81(12):1416-7. doi: 10.1007/s12098-014-1507-3. Epub 2014 Jun 19.

DOI:10.1007/s12098-014-1507-3

PMID:24944146

Abstract

摘要

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Pierson syndrome - a rare cause of congenital nephrotic syndrome.

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Kidney transplantation in a child with Pierson syndrome.患有皮尔逊综合征的儿童肾移植

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Ophthalmological aspects of Pierson syndrome.皮尔逊综合征的眼科方面

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A new mutation associated with Pierson syndrome.与 Pierson 综合征相关的一种新突变。

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Cystic kidneys in a neonate: do not forget to examine pupils.新生儿的多囊肾：别忘了检查瞳孔。

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A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome.在一名患有皮尔逊综合征的新生儿中发现一种与严重表型相关的新型LAMB2基因突变。

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Forced expression of laminin beta1 in podocytes prevents nephrotic syndrome in mice lacking laminin beta2, a model for Pierson syndrome.在缺乏层粘连蛋白β2（Pierson 综合征模型）的小鼠足细胞中强制表达层粘连蛋白β1可预防肾病综合征。

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Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities.一名无其他表型异常的儿童因常染色体隐性小瞳孔-先天性肾病综合征（皮尔逊综合征）而发现3号染色体父源等二体性。

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[New genetic mutation associated with Pierson syndrome].[与皮尔逊综合征相关的新基因突变]

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引用本文的文献

Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers.

Pediatr Nephrol. 2016 Aug;31(8):1283-6. doi: 10.1007/s00467-015-3070-1. Epub 2015 May 9.

本文引用的文献

A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2.一种由LAMB2基因突变引起的综合征，包括儿童期发病的肾小球肾病和眼部异常，并伴有视力进行性丧失。

Nephrol Dial Transplant. 2006 Nov;21(11):3283-6. doi: 10.1093/ndt/gfl463. Epub 2006 Aug 18.

Pierson syndrome: a novel cause of congenital nephrotic syndrome.皮尔逊综合征：先天性肾病综合征的一种新病因。

Pediatrics. 2006 Aug;118(2):e501-5. doi: 10.1542/peds.2005-3154. Epub 2006 Jul 24.

Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.人类层粘连蛋白β2缺乏会导致伴有系膜硬化和明显眼部异常的先天性肾病。

Hum Mol Genet. 2004 Nov 1;13(21):2625-32. doi: 10.1093/hmg/ddh284. Epub 2004 Sep 14.

[AN UNUSUAL CONGENITAL AND FAMILIAL CONGENITAL MALFORMATIVE COMBINATION INVOLVING THE EYE AND KIDNEY].[一种涉及眼睛和肾脏的罕见先天性及家族性先天性畸形组合]

J Genet Hum. 1963 Dec;12:184-213.

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