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Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease
Liu, Shu-Ping1; Ding, Jie1; Wang, Fang1; Zhang, Yan-Qin1; Ye, Jin-Tang2
关键词Cirrhosis Mutation Polycystic Kidney
刊名WORLD JOURNAL OF PEDIATRICS
2014-08-01
DOI10.1007/s12519-014-0503-z
10期:3页:271-274
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Pediatrics
研究领域[WOS]Pediatrics
关键词[WOS]PKHD1 MUTATIONS ; ARPKD ; PROTEIN ; GENE ; SPECTRUM ; ENCODES
英文摘要

Background: There are few studies on the genotypes and phenotypes of autosomal recessive polycystic kidney disease in Chinese patients.

Methods; PKHD1 mutations in three children were detected with PCR and direct sequencing, and their clinical data were retrospectively reviewed.

Results: All of the children had bilateral enlarged polycystic kidneys, congenital hepatic fibrosis and intrahepatic bile duct dilatation. One of three children had classical multiple small cysts throughout the kidneys, and the other two children had bilateral multiple renal cysts of various sizes. Two children had abnormally shaped livers, portal hypertension and splenomegaly. Two heterozygous mutations (p.T36M, and p.P137S) were detected in Patient 1 and two were detected in Patient 2 (p.L2658X and p.V836A). One heterozygous mutation (p.L1425R) was detected in Patient 3.

Conclusions; The study shows that renal and liver phenotypes of the Chinese children varied. Five mutations were identified in the three children, three of which were novel mutations.

语种英语
WOS记录号WOS:000340079700012
项目编号2012BAI03B02 ; 81070545 ; 7102148
资助机构National 12th Five Years Science and Technology Support Project ; National Nature Science Foundation ; Beijing Nature Science Foundation
引用统计
被引频次:2[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/56646
专题北京大学第一临床医学院_儿科
北京大学医学部管理机构_学报(医学版)编辑部
北京大学第一临床医学院_医学影像科
作者单位1.Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China
2.Peking Univ, Dept Radiol, Hosp 1, Beijing 100034, Peoples R China
推荐引用方式
GB/T 7714
Liu, Shu-Ping,Ding, Jie,Wang, Fang,et al. Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease[J]. WORLD JOURNAL OF PEDIATRICS,2014,10(3):271-274.
APA Liu, Shu-Ping,Ding, Jie,Wang, Fang,Zhang, Yan-Qin,&Ye, Jin-Tang.(2014).Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease.WORLD JOURNAL OF PEDIATRICS,10(3),271-274.
MLA Liu, Shu-Ping,et al."Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease".WORLD JOURNAL OF PEDIATRICS 10.3(2014):271-274.
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