先天性无牙症的系统回顾评价  

A Systematic Review of Anodontia Reported in Chinese Biomedical Jjournals between 1977 and 2012

作　　者：孔辉[1,2] 卞翠荣 

机构地区：[1]山东大学齐鲁医院口腔修复科 [2]山东大学口腔医学院,山东济南250012

出　　处：《罕少疾病杂志》2013年第3期1-7,共7页Journal of Rare and Uncommon Diseases

基　　金：山东省科技攻关项目(编号:2010GDD20211)

摘　　要：无牙症(anodontia)又称无牙畸形,系由外胚层发育不全引起的先天性牙胚发育异常,国外报道出生时患病率约为1/100000[1],属遗传性罕见病范畴,遗传方式有X连锁隐性、常染色体显性和常染色体隐性等不同方式。目前国内关于无牙症的流行病学、分子生物学、遗传学等的研究较少。本文拟通过文献检索系统回顾国内35年(1977-2012)间相关的研究。结果:共检索到文献134篇,报道病例267例,密切相关文献87篇。其中有关该病的分子生物学、遗传学研究文献仅有13篇。研究发现该病与Ed1、Edar、Edaradd基因相关,主要是错义突变,缺失与插入,其中对于Ed1基因突变研究最多,共报道约32种突变。文献分析显示:国内无牙症主要在华东、北京等地区有报告,无时间相关性;该病的基础研究主要集中在基因突变、缺失层面,尚未深入到分子机制的研究层面,与国外有较大的差距。建议对无牙症进行系统的流行病调查,总结出我国无牙症的发病特点,并进行深入的分子生物学研究和治疗技术研发,提出我国无牙症的防治方案。Anodontia, derived from the abnormal of the tooth development caused by ectodermal dysplasia, with a birth prevalence of about 1/100, 000[1], is a kind of rare disease. The disease shows X-linked recessive, autosomal-dominant and autosomal-recessive inheritance trait. Little information is available on the epidemiology, molecular biology, genetics of anodontia in China. This article reviewed Chinese biomedical literature published over the past 35 years （1977-2012） through the literature search system. Results： In total, 134 articles, 267 cases are reported, 87 articles are closely related. Only 13 articles are refered to molecular biology and genetics. Edl, Edar and Edaradd gene are found related to this disease. Missense, deletion and insertion are the main mutation, of which the most common mutation is Edl gene, study reported a total of approximately 32 mutations. The literature analysis suggests：anodontia mainly occurs in east of China, Beijing and other regions, with no time correlation, instead of the molecular mechanisms, the basic research of this disease mainly focus on gene mutations, shows a large gap with foreign. So a system epidemiological investigation is recommended to find the characteristics of this disease in China, and in-depth study of the molecular biology and treatment technology research and development should be carry on, in order to put forward prevention and treatment programs for anodontia in China.

关 键 词：罕见病 无牙症 外胚叶发育不全 基因突变 文献研究 

分 类 号：R6[医药卫生—外科学]