颅骨锁骨发育不良患者骨特异性碱性磷酸酶和抗酒石酸酸性磷酸酶的水平:1例报告

Bone-specific alkaline phosphatase and tartrate-resistant acid phosphatase levels in patients with cleidocranial dysplasia:one case report

背景:骨特异性碱性磷酸酶和抗酒石酸酸性磷酸酶与骨骼的发育密切相关。目的:观察颅骨锁骨发育不良患者骨特异性碱性磷酸酶和抗酒石酸酸性磷酸酶的变化。方法:收集1例颅骨锁骨发育不良患者临床资料,利用全颌曲面断层片检查全面了解患者的颌骨发育情况;详细进行口腔检查,记录恒牙萌出及乳牙迟萌以及埋伏牙、多生牙等;综合临床资料和实验室检查确定临床诊断,并检测患者骨特异性碱性磷酸酶和抗酒石酸酸性磷酸酶的变化。结果与结论:该患者有锁骨发育不良、囟门未闭合以及多生牙、埋伏牙等颅骨锁骨发育不良的典型症状,可诊断为颅骨锁骨发育不良,但患者染色体无异常。实验室检查发现患者的骨特异性碱性磷酸酶和抗酒石酸酸性磷酸酶均增高,提示颅骨锁骨发育不良患者可能伴有抗酒石酸酸性磷酸酶基因的变异。

BACKGROUND：Bone-specific alkaline phosphatase and tartrate-resistant acid phosphatase levels are closely related to skeletal development.OBJECTIVE：To observe bone-specific alkaline phosphatase and tartrate-resistant acid phosphatase levels in patients with cleidocranial dysplasia（CCD）.METHODS：Clinical data of one case of CCD were collected.The osseous malformation over the entire body was examined by panoramic radiography.A CCD phenotype was defined by the presence of hypoplastic clavicles and delayed closure of the anterior fontanels in addition to the presence of classic eraniofaeial features.Laboratory examination was used to detect the change of bone-specific alkaline phosphatase and tartrate-resistant acid phosphatase levels.RESULTS AND CONCLUSION：The patients had obvious clinical characteristics of CCD,such as clavicle rudiment or absence,delayed closure of cranial fontanels and sutures,supernumerary and late erupting teeth,wide pubic symphysis,and other skeletal anomalies.The skeletal abnormalities as well as oral manifestations of the syndrome were variable within the affected patient.But abnormal chromosome was not found in this patient.Bone-specific alkaline phosphatase and tartrate-resistant acid phosphatase levels were increased.These findings suggest that CCD patients may accompany with the genetic variation of tartrate-resistant acid phosphatase.