HED伴多数牙先天缺失1例的临床研究

A clinical and laboratory study on a case of hypohidrotic ectodermal dysplasia(HED) accompanied by oligodontia

目的:对1例少汗型外胚叶发育不全综合征(hypohidrotic ectodermal dysplasia,HED)伴多数牙先天缺失的患儿及其孪生姐姐进行临床研究,探讨该病的临床特点和病因。方法:首先从常规口腔检查、全口曲面断层X线片和系谱分析等三个方面研究其临床特点。然后从染色体分析(常染色体数、性染色体数、核型、数目畸变率、结构畸变率等)、血清微量元素(铜、锌、铁、镁、钙)和血清碱性磷酸酶(ALP)检测等方面进行研究。结果:HED患儿先天缺失26颗牙齿,其中包括12颗前牙、8颗前磨牙和6颗磨牙。患儿和其孪生姐姐的染色体分析未见数目畸变和结构畸变;血清微量元素铜、锌、铁、镁、钙均在正常参考值之内;血清碱性磷酸酶(ALP)患儿为250μmol/L(正常参考范围为35～130μmol/L),其值稍偏高;其孪生姐姐的ALP为92μmol/L,在正常参考范围之内。结论:该患儿HED伴多数牙先天缺失的发病原因不是由于染色体出现异常或微量元素缺少所致,可能与ALP浓度过高相关。

Objective： To investigate clinical characteristics of a case of twins with hypohidrotic ectodermal dysplasia （HED） accompanied with oligodontia. Methods： Panoramic radiograph, Pedigree analysis, chromosome testing, trace elements and ALP detection in serum were carried out. Results： The younger brother lacked 24 teeth involving incisors, canines, premolars, and molars. Skin, hairs and sweat glands were dysplasia. There were no significant differences in chromosome shape and microelement, but the twin brother＇s ALP （250 μmol/L） in serum is higher than normal （35 -130 μmol/L）. Conclusion： Based on above results, we propose that hypohidrotic ectodermal dysplasia accompanied with oligodontia is associated with ALP, not with chromosome shape and microelement.