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学科主题: 临床医学
题名:
Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease
作者: 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
发表日期: 2014-08-01
DOI: 10.1007/s12519-014-0503-z
卷: 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
所属项目编号: 2012BAI03B02 ; 81070545 ; 7102148
项目资助者: National 12th Five Years Science and Technology Support Project ; National Nature Science Foundation ; Beijing Nature Science Foundation
WOS记录号: WOS:000340079700012
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/56646
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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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

Recommended Citation:
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.
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