低碱性磷酸酯酶症及其在口腔中的表现

摘要

低碱性磷酸酯酶症(HP)又称低磷酸酶血症,是一种罕见的遗传性全身系统疾病,主要特征为骨骼和牙齿的矿化不全,血清及骨组织中碱性磷酸酶活性降低.据统计该病的严重型发病率为1/100000,而轻型发病率相对较高,其临床表现有很大的变异性,有的仅表现为年轻恒上前牙过早脱落,有的会出现严重的全身性骨骼形成不良,甚至导致新生儿死亡.HP的诊断依靠碱性磷酸酶的测定和碱性磷酸酯酶(ALP)基因的分子检测.近年的研究方向主要是组织非特异性碱性磷酸酶及其对骨矿化的功能、ALP的基因突变对HP的影响、HP的治疗方法等.%Hypophosphatasia (HP) is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase (ALP) activity. The prevalence of severe forms of the disease has been estimated at 1/100 000. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without mineralized bone to early loss of teeth without bone symptoms. The diagnosis is based on DNA sequencing of the ALP gene. In recent years, the research direction included tissue nonspecific alkaline phosphatase and its function of bone mineralization, the function of gene mutations in HP, the effects of HP's treatment.