PDF(Pubmed)
Abstract：
Hypophosphatasia (HPP) is a rare genetic condition that can manifest from the prenatal period to adulthood. Clinical presentation is characterized by six major forms. HPP can be complex and debilitating. A two-year-old male with a past medical history of HPP presented to our emergency room with a non-displaced supracondylar fracture after minor trauma. Non-accidental trauma was considered in addition to inadequate medical control of his HPP. He was referred to our multidisciplinary clinic and asfotase alfa was increased to an appropriate dose. A multidisciplinary approach is the standard of care for the management of children with HPP, allowing for routine evaluation by tertiary specialists. This includes medication dosing surveillance with serum studies and imaging. Enzyme replacement therapy, appropriately dosed by considering weight and laboratory values, may reduce orthopedic complications. A multidisciplinary team\'s surveillance of patients with HPP ensures proper medication management, decreases the likelihood of bony injury and encourages continued patient follow-up.
摘要：
低磷酸盐症（HPP）是一种罕见的遗传病，可以从产前到成年期表现出来。临床表现以六种主要形式为特征。HPP可以是复杂的和衰弱的。一名有HPP病史的两岁男性在轻微创伤后出现无移位的髁上骨折，来到我们的急诊室。除了对HPP的医疗控制不足外，还考虑了非意外创伤。他被转诊到我们的多学科诊所，并将asfotasealfa增加到适当的剂量。多学科方法是HPP儿童管理的护理标准，允许三级专家进行常规评估。这包括血清研究和成像的药物剂量监测。酶替代疗法,通过考虑体重和实验室值进行适当的剂量，可以减少骨科并发症。一个多学科小组对HPP患者的监测确保了正确的药物管理，降低骨损伤的可能性,并鼓励患者继续随访.
