Im Minji, Cho Sung Yoon
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Osteoporos Sarcopenia. 2025 Jun;11(2):38-42. doi: 10.1016/j.afos.2025.05.003. Epub 2025 Jun 9.
Hypophosphatasia (HPP) is a rare inherited metabolic bone disorder caused by loss-of-function mutations in the gene, leading to deficient activity of tissue-nonspecific alkaline phosphatase (TNSALP). HPP is diagnosed based on a combination of clinical features, laboratory findings, radiographic findings, and DNA analysis identifying a pathogenic variant of . Based on the clinical heterogeneity of HPP, the diagnosis of HPP is very challenging. However, the introduction of asfotase alfa, a bone-targeted recombinant TNSALP, has improved the prognosis. Early diagnosis of HPP is essential for timely initiation of enzyme replacement therapy (ERT). This review aims to provide an updated current knowledge on the genetic basis, pathophysiology, epidemiology, clinical classification, diagnosis, and management of HPP, with particular emphasis on ERT and emerging diagnostic approaches.
低磷性骨软化症（HPP）是一种罕见的遗传性代谢性骨病，由该基因的功能丧失突变引起，导致组织非特异性碱性磷酸酶（TNSALP）活性不足。HPP的诊断基于临床特征、实验室检查结果、影像学检查结果以及鉴定该基因致病变异的DNA分析。基于HPP的临床异质性，HPP的诊断极具挑战性。然而，骨靶向重组TNSALP阿法骨化醇的引入改善了预后。HPP的早期诊断对于及时开始酶替代疗法（ERT）至关重要。本综述旨在提供关于HPP的遗传基础、病理生理学、流行病学、临床分类、诊断和管理的最新知识，特别强调ERT和新兴的诊断方法。
