北京大学医学部机构知识库
Advanced  
IR@PKUHSC  > 北京大学第一临床医学院  > 期刊论文
学科主题: 临床医学
题名:
Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study
作者: Ye, Jun1; Yang, Yanling2; Yu, Weimin3; Zou, Hui4; Jiang, Jianhui5; Yang, Rulai6; Shang, Sunny7; Gu, Xuefan1
刊名: JOURNAL OF INHERITED METABOLIC DISEASE
发表日期: 2013-09-01
DOI: 10.1007/s10545-012-9550-6
卷: 36, 期:5, 页:893-901
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Endocrinology & Metabolism ; Genetics & Heredity
研究领域[WOS]: Endocrinology & Metabolism ; Genetics & Heredity
关键词[WOS]: HYPERPHENYLALANINEMIA ; PHENYLKETONURIA ; GENE
英文摘要:

National coverage of neonatal screening for hyperphenylalaninaemia (HPA) in China is still low and tests to differentiate causes of HPA are not performed in many centres. This study aimed to describe the demographics, geographic distribution, diagnosis, treatment and clinical outcomes of treatment, including intellectual development, in patients with tetrahydrobiopterin (BH4) deficiency in mainland China.

This was a retrospective, multicentre, chart review in patients with BH4 deficiency across mainland China born 1985-2010.

Two hundred fifty six patients were included; 59.9 % (267/446) of parents were from eastern China. Median (interquartile range) age at diagnosis decreased from 12.0 (5.5, 102.0) months to 2.0 (1.0, 3.5) months in patients born 1985-1999 (n = 28) and 2005-2010 (n = 152), respectively. 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency was the primary cause of BH4 deficiency (96.0 %); four hotspot mutations accounted for 76.6 % of PTS gene mutations; two novel variants in the QDPR gene were identified. Most patients (83.6 %) received treatment with BH4, l-dopa, 5-hydroxytryptophan and/or diet therapy. Target blood Phe concentration was confirmed at 88.9 % of visits; median (Q1, Q3) blood Phe concentration was 106.8 (73.0, 120.0) mu mol/L during therapy and 117.0 (67.1, 120.0) mu mol/L at last visit. Median (Q1, Q3) WISC IQ score was 80.0 (69.0, 90.0) in 33 patients. DQ scores were within normal range (a parts per thousand yen85) for 37/59 (62.7 %) patients. Physical development indicators were within normal ranges. Treatment-related adverse events, reported in 20/256 (7.8 %) patients, were mild-to-moderate in severity.

This study provides valuable information on the current and historical situation of BH4 deficiency in mainland China.

语种: 英语
所属项目编号: 2006BAI05A05 ; 2006BAI05A07 ; 2007AA02Z447 ; 06XJ21024
项目资助者: Merck Serono Co., Ltd, Beijing, China ; National Key Technology RD Programme ; National High Technology Research and Development Programme ("863" Program) ; Shanghai Jiao Tong University School of Medicine Foundation Technology Programme
WOS记录号: WOS:000323662500022
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/54469
Appears in Collections:北京大学第一临床医学院_期刊论文

Files in This Item:

There are no files associated with this item.


作者单位: 1.Peking Univ, Hosp 1, Beijing 100871, Peoples R China
2.China Japan Friendship Hosp, Beijing, Peoples R China
3.Jinan Maternal & Child Care Hosp, Jinan, Shandong, Peoples R China
4.Merck Serono China, Beijing, Peoples R China
5.Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Shanghai 200030, Peoples R China
6.Guangzhou Maternal & Child Care Hosp, Guangzhou, Guangdong, Peoples R China
7.Zhejiang Univ, Sch Med, Childrens Hosp, Hangzhou 310003, Zhejiang, Peoples R China

Recommended Citation:
Ye, Jun,Yang, Yanling,Yu, Weimin,et al. Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study[J]. JOURNAL OF INHERITED METABOLIC DISEASE,2013,36(5):893-901.
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[Ye, Jun]'s Articles
[Yang, Yanling]'s Articles
[Yu, Weimin]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[Ye, Jun]‘s Articles
[Yang, Yanling]‘s Articles
[Yu, Weimin]‘s Articles
Related Copyright Policies
Null
Social Bookmarking
Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit

Items in IR are protected by copyright, with all rights reserved, unless otherwise indicated.

 

 

Valid XHTML 1.0!
Copyright © 2007-2017  北京大学医学部 - Feedback
Powered by CSpace