Scotta M S, Marzani M D, Abbati G, Panza A, Bailo C
Pediatr Med Chir. 1982 Jul-Aug;4(4):447-50.
Hypophosphatasia is a rare familial disease characterized by abnormalities of the skeleton, low serum alkaline phosphatase level and presence of abnormal quantities of phosphorylethanolamine in plasma and urine. The biochemical bases of inadequate calcification of the bone matrix are unknown. We report the case of a 4 month-old infant who presented symptoms of rickets. Laboratory analysis showed normal serum Ca and P levels, low serum alkaline phosphatase activity, PEA level increased in plasma and urine. X-ray examination of the bones disclosed poor mineralization and the presence of focal defects of the skull. The therapeutic problems are discussed.
低磷酸酯酶症是一种罕见的家族性疾病，其特征为骨骼异常、血清碱性磷酸酶水平低以及血浆和尿液中存在异常量的磷酸乙醇胺。骨基质钙化不足的生化基础尚不清楚。我们报告了一例4个月大出现佝偻病症状的婴儿病例。实验室分析显示血清钙和磷水平正常，血清碱性磷酸酶活性低，血浆和尿液中磷酸乙醇胺水平升高。骨骼的X线检查显示矿化不良以及颅骨存在局灶性缺损。文中讨论了治疗问题。
