Wendling D, Jeannin-Louys L, Kremer P, Fellmann F, Toussirot E, Mornet E
Rheumatology department, CHU Jean Minjoz, Besançon, France.
Joint Bone Spine. 2001 Mar;68(2):120-4. doi: 10.1016/s1297-319x(00)00238-4.
Hypophosphatasia is an inborn metabolic disorder in which abnormally low levels of the enzyme nonspecific alkaline phosphatase result in defective skeletal and dental mineralization (rickets, fractures, dental abnormalities) and in accumulation of the enzyme substrates (phosphoethanolamine, pyridoxal-5'phosphate and inorganic pyrophosphate). The build-up of inorganic pyrophosphate promotes the development of articular chondrocalcinosis. There are several forms of hypophosphatasia, with wide variations in severity. We report the case of a 53-year-old man with typical manifestations of moderate adulthood hypophosphatasia. Investigations in his family found the disease in a sister and two children. He had two autosomal mutations, which were transmitted recessively. Several mutations of the alkaline phosphatase gene have been identified. The genotype is correlated with the phenotype: some mutations are associated with milder forms and others with more severe forms of the disease.
低磷酸酯酶症是一种先天性代谢紊乱疾病，其中非特异性碱性磷酸酶水平异常降低会导致骨骼和牙齿矿化缺陷（佝偻病、骨折、牙齿异常）以及酶底物（磷酸乙醇胺、磷酸吡哆醛和无机焦磷酸）的积累。无机焦磷酸的积累会促进关节软骨钙质沉着症的发展。低磷酸酯酶症有多种形式，严重程度差异很大。我们报告了一例53岁男性患有中度成人低磷酸酯酶症典型表现的病例。对其家族的调查发现一名姐妹和两个孩子患有该病。他有两个常染色体突变，呈隐性遗传。已经鉴定出碱性磷酸酶基因的几种突变。基因型与表型相关：一些突变与疾病较轻的形式相关，而另一些则与更严重的形式相关。
