乳牙早脱1例

摘要

AIM; To investigate the pathogenecity of a case with early shedding of deciduous teeth.METHODS; Panoramic radiograph, articulationes carpi and articular genu radiograph were taken. Chromosome testing was done. Trace elements and ALP, B-ALP and TRCAP-5b in serum were measured. RESULTS: No abnormalities were found in radiographic tests. No structural and number abnormality was found in chromosome testing. ALP and B-ALP were lower than normal and the TRCAP-5b was higher than normal. CONCLUSION; Based on the above results, we propose that this child is odonto hypophosphatasia. However, further studies including gene mutation study are required to confirm the diagnosis.%目的:对1例乳牙早脱患儿进行临床研究,初步探讨该病临床特点和病因.方法:首先从常规口腔检查、全口曲面断层X线片、双手尺骨腕关节x线片、双下肢骨、膝关节X线片和系谱分析等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(钾、钠、氯、钙、镁、磷)和血清碱性磷酸酶(ALP)、骨特异性碱性磷酸酶(B-ALP)、抗酒石酸酸性磷酸酶-5b(TRCAP-5b)检测等方面进行研究.结果:患儿的腕关节、膝关节X线片未见异常,染色体分析未见数目畸变和结构畸变,血清微鼍元素钾、钠、氯、钙、镁、磷均在正常参考值.患儿血清碱性磷酸酶偏低(23 μmol/L);骨特异性碱性磷酸酶偏低(3.38 μg/L);抗酒石酸酸性磷酸酶5 b偏高7.89 U/L.结论:该患儿仅碱性磷酸酯酶低而不伴有其他发育异常,可能属于牙齿型低碱性磷酸酯酶症,需进一步研究其基因突变位点进行确诊.