Remde Hanna, Cooper Mark S, Quinkler Marcus
Charité-University Medicine Berlin, 10117 Berlin Germany.
Endocrinology in Charlottenburg, 10627 Berlin, Germany.
J Endocr Soc. 2017 Aug 18;1(9):1188-1193. doi: 10.1210/js.2017-00307. eCollection 2017 Sep 1.
Hypophosphatasia is an inherited disease characterized by reduced alkaline phosphatase activity, extracellular accumulation of inorganic pyrophosphate, and impaired bone mineralization. Asfotase alfa (AA) is a recombinant human alkaline phosphatase therapy approved for treatment of pediatric-onset hypophosphatasia. Studies show promising outcome in AA-treated children with hypophosphatasia; however, data on adults with pediatric-onset hypophosphatasia are scarce. We report on a 59-year-old woman with childhood-onset hypophosphatasia and a history of multiple fractures and orthopedic procedures. Owing to renal failure (histological diagnosis: focal segmental glomerulosclerosis), hemodialysis was started in 2013. By the end of 2015, the patient was unable to walk, could only stand for 30 seconds, and was completely dependent on help for activities of daily living. After 13 months of AA therapy, the patient showed a dramatic increase in quality of life (increased mobility), reduction in pain medication, and a significant improvement in bone mineralization throughout the skeleton, including consolidation of existing fractures and no occurrence of new fractures. This case report demonstrates a relevant therapeutic success of AA treatment in an adult hemodialysis patient with childhood onset of hypophosphatasia.
低磷性骨软化症是一种遗传性疾病，其特征为碱性磷酸酶活性降低、无机焦磷酸在细胞外蓄积以及骨矿化受损。阿法骨化醇（AA）是一种重组人碱性磷酸酶疗法，已被批准用于治疗儿童期低磷性骨软化症。研究表明，接受AA治疗的低磷性骨软化症儿童预后良好；然而，关于患有儿童期低磷性骨软化症的成年人的数据却很少。我们报告了一名59岁女性，她患有儿童期低磷性骨软化症，有多次骨折和骨科手术史。由于肾衰竭（组织学诊断：局灶节段性肾小球硬化），2013年开始进行血液透析。到2015年底，患者无法行走，只能站立30秒，日常生活活动完全依赖他人帮助。经过13个月的AA治疗，患者的生活质量显著提高（活动能力增强），止痛药物用量减少，全身骨骼的骨矿化有显著改善，包括现有骨折愈合且未出现新的骨折。本病例报告证明了AA治疗对一名患有儿童期低磷性骨软化症的成年血液透析患者具有显著的治疗效果。
