| 低磷酸酶血症治疗新进展 |
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| 引用本文： | 赵耘,刘敏. 低磷酸酶血症治疗新进展[J]. 中华实用儿科临床杂志, 2021, 0(2): 151-154 |
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| 作者姓名： | 赵耘 刘敏 |
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| 作者单位： | 北京市朝阳区妇幼保健院儿童早期综合发展服务中心;国家儿童医学中心 |
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| 摘 要： | 低磷酸酶血症(HPP)是由编码组织非特异性碱性磷酸酶(TNSALP)的基因变异导致功能缺失引起的。HPP的症状、体征和并发症非常多变，包括骨骼低矿化、钙和磷酸盐代谢障碍、反复发生的骨折、疼痛、活动受限、牙齿过早脱落、生长发育迟缓和癫痫等。针对HPP有不同的治疗尝试，Asfotase alfa是一种骨靶向重组TNSALP...
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| 关 键 词： | 低磷酸酶血症 酶替代治疗 管理 |
New progress in treatment of hypophosphatasia |
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| Zhao Yun,Liu Min. New progress in treatment of hypophosphatasia[J]. Chinese Journal of Applied Clinical Pediatrics, 2021, 0(2): 151-154 |
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| Authors: | Zhao Yun Liu Min |
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| Affiliation: | (Center of Integrated Early Child Development,Chaoyang District Maternal and Child Health Care Hospital,Beijing 100021,China;Center of Endocrinology,Genetics and Metabolism,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China) |
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| Abstract: | Hypophosphatasia(HPP)is caused by loss-of-function mutation(s)of the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase(TNSALP).Its manifestations are variable,including impaired skeletal mineralization,altered calcium and phosphate metabolism,recurrent fractures,pain,impaired mobility,premature tooth loss,developmental delay,and seizures.There are different attempts for HPP.Asfotase alfa(Strensiq™),is a bone-targeted recombinant TNSALP which has shown significant improvements in morbidity and mortality in patients with perinatal and infantile hypophosphatasia,and it can improve growth,mobility function and quality of life.This enzyme replacement therapy has generally been well-tolerated,with most adverse reactions being mild-to-moderate in nature.This article reviews recent advances in the treatment of the disease. |
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| Keywords: | Hypophosphatasia Enzyme replacement therapy Management |
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