Mornet Etienne
Laboratoire SESEP, Centre Hospitalier de Versailles, Bâtiment EFS, 2 rue Jean-Louis Forain, 78150 Le Chesnay, France.
Best Pract Res Clin Rheumatol. 2008 Mar;22(1):113-27. doi: 10.1016/j.berh.2007.11.003.
Hypophosphatasia is a rare inherited disorder characterized by defective bone and tooth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The frequency of the disease has been estimated to be one in 100 000 for severe forms, but mild forms of hypophosphatasia may be more common. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without mineralized bone to early tooth loss without bone symptoms. The transmission of severe forms is autosomal recessive, while milder forms may be transmitted as dominant or recessive autosomal traits. The diagnosis is based on serum alkaline phosphatase assay and molecular analysis of the liver/bone/kidney alkaline phosphatase gene (ALPL). Currently, there is no treatment for the disease. Over the past 10 years, great progress has been made in understanding the structure of tissue non-specific alkaline phosphatase, its function in bone mineralization, and the effect of ALPL mutations responsible for hypophosphatasia.
低磷酸酯酶症是一种罕见的遗传性疾病，其特征为骨骼和牙齿矿化缺陷，以及血清和骨碱性磷酸酶活性缺乏。据估计，严重形式的该病发病率为十万分之一，但轻度低磷酸酯酶症可能更为常见。其症状在临床表现上差异很大，范围从无矿化骨的死产到无骨骼症状的早期牙齿脱落。严重形式的遗传方式为常染色体隐性遗传，而较轻形式可能以显性或隐性常染色体性状遗传。诊断基于血清碱性磷酸酶检测以及肝/骨/肾碱性磷酸酶基因（ALPL）的分子分析。目前，该病尚无治疗方法。在过去10年中，在了解组织非特异性碱性磷酸酶的结构、其在骨矿化中的作用以及导致低磷酸酯酶症的ALPL突变的影响方面取得了巨大进展。
