Int J Stomatol

Int J Stomatol ›› 2022, Vol. 49 ›› Issue (2): 239-243.doi: 10.7518/gjkq.2022036

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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 E-mail:810559514@qq.com;zoujing1970@126.com
  • 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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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

CLC Number: 

  • R780.2

TrendMD: 

Tab 1

Main identification methods of HPP with PLS, LCH, LAD1"

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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