低磷酸酯酶症口腔表征的研究进展  

Research advances on oral manifestation of hypophosphatasia

作　　者：谢永婷 黄睿洁 邹静[1] Xie Yongting;Huang Ruijie;Zou Jing(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)

机构地区：[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

出　　处：《国际口腔医学杂志》2022年第2期239-243,共5页International Journal of Stomatology

基　　金：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)。

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。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.

关 键 词：低磷酸酯酶症 碱性磷酸酶 牙齿过早脱落 牙骨质 

分 类 号：R596.1[医药卫生—内科学]