| 中国人低磷酸酶血症的基因突变特点及常见就诊原因 |
| 投稿时间：2016-01-06 修订日期：2016-01-23 点此下载全文 |
| 引用本文：李丽丽,陈斌,闫福华.中国人低磷酸酶血症的基因突变特点及常见就诊原因[J].医学研究杂志,2016,45(8):74-79 |
| DOI：
10.11969/j.issn.1673-548X.2016.08.020 |
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| 基金项目:江苏省临床科技专项基金资助项目（BL2013002）；江苏省双创计划基金资助项目（苏人才办[2014]27号） |
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| 中文摘要:目的 本研究旨在分析中国低磷酸酶血症患者的基因突变特点和常见就诊原因，提醒相关医生加以注意，以提高诊断效率。方法 通过中国知网、维普中文科技期刊数据库、万方数据库、PubMed、Ovid、Web of Science和Embase，检索截止到2015年12月31日的可能包含低磷酸酶血症的病例的文献。根据纳入与排除标准进行筛选和评价，然后提取所纳入文献中的就诊信息，进行归纳和统计分析。结果 最终筛选出25篇包含中国低磷酸酶血症患者就诊信息的文献，共包含34位患者。笔者发现ALPL基因突变主要分布在5、10号外显子，其中75.0%为错义突变。34位患者中16位（47%）因乳牙早失就诊，12位（35%）因骨骼异常就诊。结论 中国HP患者ALPL基因突变在外显子上的分布不同于其他种族，乳牙早失和骨骼异常是常见就诊原因。 |
| 中文关键词:低磷酸酶血症 组织非特异性碱性磷酸酶 基因突变 就诊原因 |
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| Characteristics of Gene Mutation and Chief Complaint of Chinese Patient with Hypophosphatasia |
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| Abstract:Objective To analyse the characteristics of ALPL gene mutation in Chinese patients with hypophosphatasia (HP), as well as the main complainment in clinical practice, so that more patients with HP can be diagnosed timely. Methods We systematically searched the databases CNKI, VIP, Wanfang, PubMed, Ovid, Web of Science and Embase for the literatures which may contain the report of HP up to December 31, 2015. The literatures were screened and evaluated according to the inclusion and exclusion criteria. Then we collected and analyzed information from the included literature. Results A total of 34 samples from 25 independent studies were enrolled in the present analysis. We found that the ALPL gene mutations of Chinese patients were mainly in exon 5 and exon 10. 75.0% of the mutations were missense mutation. Sixteen (47%) of the 34 patients came to the doctor for early exfoliation of deciduous teeth. Twelve (35%) of them for bone dysplasia. Conclusion Distribution of ALPL gene mutation in exon may different in Chinese patient from those in the other races. Early exfoliation of deciduous teeth and bone dysplasia are common causes in clinical practice. |
| keywords:Hypophosphatasia Tissue non-specific alkaline phosphatase Gene mutation Chief complaint |
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