[1]许莉军,姜艳,夏维波.低磷酸酶血症的研究进展[J].国际内分泌代谢杂志,2015,(03):211-214.[doi:10.3760/cma.j.issn.1673-4157.2015.03.020]
 Xu Lijun,Jiang Yan,Xia Weibo..Research progress of hypophosphatasia[J].International Journal of Endocrinology and Metabolism,2015,(03):211-214.[doi:10.3760/cma.j.issn.1673-4157.2015.03.020]
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低磷酸酶血症的研究进展()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
期数:
2015年03
页码:
211-214
栏目:
综述
出版日期:
2015-05-20

文章信息/Info

Title:
Research progress of hypophosphatasia
作者:
许莉军姜艳夏维波
100730 北京,中国医学科学院,北京协和医学院,北京协和医院内分泌科,卫生部内分泌重点实验室   
Author(s):
Xu LijunJiang YanXia Weibo.
Department of Endocrinology,Key Laboratory of Endocrinology,Ministry of Health,Beijing Union Medical College Hospital,Chinese Academy of Medical Sciences Peking Union Medical College,Beijing 100730,China Corresponding author:Xia Weibo,Email:xiaweibo@medmail.com.cn
关键词:
低磷酸酶血症ALPL基因治疗
Keywords:
HypophosphatasiaALPL geneTherapy
DOI:
10.3760/cma.j.issn.1673-4157.2015.03.020
摘要:
低磷酸酶血症(HPP)是一种罕见的以骨和(或)牙齿矿化障碍,伴有血清碱性磷酸酶活性降低为特征的遗传性疾病。该病临床异质性强,容易造成漏诊和误诊。诊断主要依赖于临床表现、血清碱性磷酸酶降低及影像学特征。ALPL基因突变是诊断低磷酸酶血症必不可少的条件。HPP患者不建议使用维生素D和双膦酸盐。酶替代疗法将是未来几年最有前景的治疗方法。
Abstract:
Hypophosphatasia is a rare inherited disorder characterized by defective bone and/or dental mineralization, and decreased serum alkaline phosphatase activity. The disease can be easily missed diagnose and misdiagnosed. The diagnosis of hypophosphatasia is based on clinical manifestations,decreased alkaline phosphatase level and radiological examinations. Screening for mutations in the ALPL gene is essential to diagnose the disease. Vitamin D and bisphosphonates are not suggested to use. Enzyme replacement therapy will be certainly the most promising challenge of the next few years.

参考文献/References:

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备注/Memo

备注/Memo:
基金项目:国家自然科学基金资助项目(81070687,81170805) 通信作者:夏维波,Email:xiaweibo@medmail.com.cn
更新日期/Last Update: 2015-05-20