CAJ | 학술논문

低磷酸酶血症(HPP)是一种罕见的以骨和(或)牙齿矿化障碍,伴有血清碱性磷酸酶活性降低为特征的遗传性疾病.该病临床异质性强,容易造成漏诊和误诊.诊断主要依赖于临床表现、血清碱性磷酸酶降低及影像学特征.ALPL基因突变是诊断低磷酸酶血症必不可少的条件.HPP患者不建议使用维生素D和双膦酸盐.酶替代疗法将是未来几年最有前景的治疗方法.
저린산매혈증(HPP)시일충한견적이골화(혹)아치광화장애,반유혈청감성린산매활성강저위특정적유전성질병.해병림상이질성강,용역조성루진화오진.진단주요의뢰우림상표현、혈청감성린산매강저급영상학특정.ALPL기인돌변시진단저린산매혈증필불가소적조건.HPP환자불건의사용유생소D화쌍련산염.매체대요법장시미래궤년최유전경적치료방법.
Hypophosphatasia is a rare inherited disorder characterized by defective bone and/or dental mineralization,and decreased serum alkaline phosphatase activity.The disease can be easily missed diagnose and misdiagnosed.The diagnosis of hypophosphatasia is based on clinical manifestations,decreased alkaline phosphatase level and radiological examinations.Screening for mutations in the ALPL gene is essential to diagnose the disease.Vitamin D and bisphosphonates are not suggested to use.Enzyme replacement therapy will be certainly the most promising challenge of the next few years.