成人起病型低磷酸酯酶症：阿法骨化醇治疗前后
ADULT-ONSET HYPOPHOSPHATASIA: BEFORE AND AFTER TREATMENT WITH ASFOTASE ALFA.
作者信息
Magdaleno Angela L, Singh Sonum, Venkataraman Sandhya, Perilli Gretchen A, Lee Ya-Yu
出版信息
AACE Clin Case Rep. 2019 Aug 15;5(6):e344-e348. doi: 10.4158/ACCR-2019-0143. eCollection 2019 Nov-Dec.
OBJECTIVE
To review the diagnosis and clinical course of a woman with hypophosphatasia who is being treated with newly approved enzyme replacement therapy, asfotase alfa.
METHODS
Clinical and laboratory data are presented.
RESULTS
This is a unique report of a woman with debilitating adult-onset hypophosphatasia who was successfully diagnosed with low alkaline phosphatase (ALP) levels and elevated vitamin B levels. Treatment with asfotase alfa resolved her chronic bony pain symptoms and quadrupled her daily pedometer step count. Furthermore, whole body scans before and after treatment showed less focal uptake overall, suggesting fracture healing after enzyme replacement therapy.
CONCLUSION
Improvement in patient reported symptoms, daily pedometer count, and whole body scans was noted after treatment of adult-onset hypophosphatasia with asfotase alfa enzyme replacement therapy. The significance of increased ALP levels after treatment is currently unknown.
目的
回顾一名接受新批准的酶替代疗法阿法骨化醇治疗的低磷酸酯酶症女性的诊断及临床病程。
方法
呈现临床和实验室数据。
结果
这是一份关于一名患有使人衰弱的成人型低磷酸酯酶症女性的独特报告，该患者通过低碱性磷酸酶（ALP）水平和升高的维生素B水平被成功诊断。阿法骨化醇治疗缓解了她的慢性骨痛症状，并且使她每日计步器步数增加了四倍。此外，治疗前后的全身扫描显示总体上局部摄取减少，提示酶替代疗法后骨折愈合。
结论
在用阿法骨化醇酶替代疗法治疗成人型低磷酸酯酶症后，患者报告的症状、每日计步器计数和全身扫描均有改善。治疗后ALP水平升高的意义目前尚不清楚。
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