IR@PKUHSC  > 北京大学第一临床医学院
学科主题临床医学
Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study
Ye, Jun1; Yang, Yanling2; Yu, Weimin3; Zou, Hui4; Jiang, Jianhui5; Yang, Rulai6; Shang, Sunny7; Gu, Xuefan1
刊名JOURNAL OF INHERITED METABOLIC DISEASE
2013-09-01
DOI10.1007/s10545-012-9550-6
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
WOS记录号WOS:000323662500022
引用统计
被引频次:8[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/400002259/54469
专题北京大学第一临床医学院
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
推荐引用方式
GB/T 7714
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.
APA Ye, Jun.,Yang, Yanling.,Yu, Weimin.,Zou, Hui.,Jiang, Jianhui.,...&Gu, Xuefan.(2013).Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study.JOURNAL OF INHERITED METABOLIC DISEASE,36(5),893-901.
MLA Ye, Jun,et al."Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study".JOURNAL OF INHERITED METABOLIC DISEASE 36.5(2013):893-901.
条目包含的文件
条目无相关文件。
个性服务
推荐该条目
保存到收藏夹
查看访问统计
导出为Endnote文件
谷歌学术
谷歌学术中相似的文章
[Ye, Jun]的文章
[Yang, Yanling]的文章
[Yu, Weimin]的文章
百度学术
百度学术中相似的文章
[Ye, Jun]的文章
[Yang, Yanling]的文章
[Yu, Weimin]的文章
必应学术
必应学术中相似的文章
[Ye, Jun]的文章
[Yang, Yanling]的文章
[Yu, Weimin]的文章
相关权益政策
暂无数据
收藏/分享
所有评论 (0)
暂无评论
 

除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。