Duffus Sara, Thrasher Bradly, Calikoglu Ali S
Department of Pediatrics, University of North Carolina, Chapel Hill, NC, USA.
Division of Pediatric Endocrinology, Children's Hospital at Erlanger, Chattanooga, TN, USA.
Case Rep Pediatr. 2018 Apr 1;2018:5719761. doi: 10.1155/2018/5719761. eCollection 2018.
Hypophosphatasia (HPP) is a rare, inherited metabolic bone disorder characterized by low serum alkaline phosphatase activity and impaired bone mineralization. Clinical manifestations and severity of symptoms vary widely in HPP, ranging from in utero death to isolated dental manifestations in adults. Treatment with enzyme replacement therapy has been reported to improve outcomes in perinatal, infantile, and childhood forms of HPP. Here, we present a case of a boy with poor linear growth, mild limb bowing, and radiographic rickets who was diagnosed with HPP before 6 months of age. Treatment with enzyme replacement therapy was initiated at 7 months of age, after which significant improvements in radiographic findings and linear growth were demonstrated. This case highlights several important challenges in the diagnosis, classification, and management of HPP.
低磷酸酯酶症（HPP）是一种罕见的遗传性代谢性骨病，特征为血清碱性磷酸酶活性降低和骨矿化受损。HPP的临床表现和症状严重程度差异很大，范围从宫内死亡到成人的孤立牙齿表现。据报道，酶替代疗法可改善围产期、婴儿期和儿童期HPP的治疗效果。在此，我们报告一例6个月前被诊断为HPP的男孩，其线性生长缓慢、轻度肢体弯曲且有影像学佝偻病表现。7个月大时开始酶替代疗法，之后影像学表现和线性生长有显著改善。该病例突出了HPP在诊断、分类和管理方面的几个重要挑战。
