关键词： 低磷酸酯酶血症, 组织非特异性碱性磷酸酯酶, 基因突变

Abstract: Hypophosphatasia is an inherited disorder rarely known to dentists in China.Defective bone and teeth mineralization,deficiency of serum and bone alkaline phosphatase are typical features.Symptoms are highly variable,and premature loss of the teeth is the clinical manifestation for dentists to deal in time.The molecular pathogenesis,symptoms and therapy have been reviewed in the paper.

Key words: hypophosphatasia, tissue non-specific alkaline phosphatase, genetic mutation