国际口腔医学杂志

国际口腔医学杂志 ›› 2022, Vol. 49 ›› Issue (2): 239-243.doi: 10.7518/gjkq.2022036

• 综述 • 上一篇    下一篇

低磷酸酯酶症口腔表征的研究进展

谢永婷(),黄睿洁,邹静()   

  1. 口腔疾病研究国家重点实验室 国家口腔疾病临床医学研究中心 四川大学华西口腔医院儿童口腔科 成都 610041
  • 收稿日期:2021-06-16 修回日期:2021-12-10 出版日期:2022-03-01 发布日期:2022-03-15
  • 通讯作者: 邹静
  • 作者简介:谢永婷,硕士,Email： 810559514@qq.com
  • 基金资助:
    四川省科技厅国际科技创新合作/港澳台科技创新合作项目(2019YFH0025)

Research advances on oral manifestation of hypophosphatasia

Xie Yongting(),Huang Ruijie,Zou Jing()   

  1. State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases & Dept. of Pediatric Dentistry, West China Hospital of Stomatology, Sichuan University, Chengdu 610041, China
  • Received:2021-06-16 Revised:2021-12-10 Online:2022-03-01 Published:2022-03-15
  • Contact: Jing Zou
  • Supported by:
    International Science and Technology Innovation Cooperation Project of Science and Technology Department of Sichuan Province/Hong Kong, Macao and Taiwan(2019YFH0025)

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摘要：

低磷酸酯酶症是一种罕见的遗传性代谢性疾病。它是由于碱性磷酸酶基因突变导致体内其编码的组织非特异性碱性磷酸酶活性丧失或降低,从而引起无机焦磷酸盐在细胞外大量累积抑制骨骼和牙齿硬组织的矿化,进而导致骨骼和牙齿发育异常。低磷酸酯酶症的临床表现从仅表现为牙齿过早脱落,到严重的全身性骨骼形成不良。本文从低磷酸酯酶症患者的口腔表征入手,对其分类、诊断及鉴别诊断的研究进展进行综述,以期为口腔医生临床上早期正确诊断低磷酸酯酶症、给予患者恰当的治疗方案、提高其生存与生活质量提供参考。

关键词: 低磷酸酯酶症, 碱性磷酸酶, 牙齿过早脱落, 牙骨质

Abstract:

Hypophosphatasia is a rare, inherited metabolic disorder caused by loss-of-function mutation in the alkaline phosphatase gene, which encodes the tissue non-specific alkaline phosphatase, leading to the accumulation of inorganic pyrophosphate in extracellular and impaired mineralisation of bones and teeth. The clinical manifestations range from premature tooth loss to systemic skeletal dysplasia. This article will start with the research about oral manifestation of patients with hypophosphatasia and review the progress of its classification, diagnosis and differential diagnosis, which aims to provide reference for dentists to diagnose hypophosphatasia early, provide appropriate treatment to patients and improve their survival and quality of life.

Key words: hypophosphatasia, alkaline phosphatase, premature loss of the teeth, cementum

中图分类号: 

  • R780.2

表 1

HPP和PLS,LCH,LAD1的主要鉴别方法"

项目 HPP PLS LCH LAD1
病因 ALPL基因突变 CTSC基因突变 朗格汉斯细胞克隆性增生 CD18基因突变
牙体硬组织病变 牙齿过早脱落
牙根牙骨质形成/发育不良
牙本质钙化不规则
小球根状冠
颈部狭窄		 牙齿过早脱落
牙根牙骨质发育不良		 牙齿过早脱落 牙齿过早脱落
牙周组织及黏膜病变 牙龈组织无明显炎症 严重早发性牙周炎 溃疡性黏膜病变
牙周炎
牙槽骨病变伴新骨形成		 复发性口腔溃疡
牙龈红肿、增生/退缩
牙周炎
口腔影像学表现 牙槽骨高度降低/矿化不足
牙根短小
髓腔大		 牙槽骨广泛吸收
深牙周袋		 颌骨及牙槽骨溶骨性破坏
深牙周袋		 牙槽骨广泛吸收
其他临床表现 骨骼矿化障碍 皮肤过度角化 脾、肝、淋巴结肿大 细菌感染症状
伤口愈合障碍
主要诊断方法 生化检测 影像学检查 组织病理学检查 流式细胞仪检测
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