青少年及成人低磷性骨软化症：诊断与治疗概述
Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment.
作者信息
Bianchi M L, Bishop N J, Guañabens N, Hofmann C, Jakob F, Roux C, Zillikens M C
机构信息
Laboratorio sperimentale di ricerche sul metabolismo osseo infantile, Centro Malattie Metaboliche Ossee, Istituto Auxologico Italiano IRCCS, Milan, Italy.
Department of Oncology and Metabolism, University of Sheffield, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
出版信息
Osteoporos Int. 2020 Aug;31(8):1445-1460. doi: 10.1007/s00198-020-05345-9. Epub 2020 Mar 11.
This article provides an overview of the current knowledge on hypophosphatasia-a rare genetic disease of very variable presentation and severity-with a special focus on adolescents and adults. It summarizes the available information on the many known mutations of tissue-nonspecific alkaline phosphatase (TNSALP), the epidemiology and clinical presentation of the disease in adolescents and adults, and the essential diagnostic clues. The last section reviews the therapeutic approaches, including recent reports on enzyme replacement therapy (EnzRT).
本文概述了目前关于低磷性骨软化症——一种表现和严重程度差异很大的罕见遗传病——的知识，特别关注青少年和成年人。它总结了关于组织非特异性碱性磷酸酶（TNSALP）许多已知突变的现有信息、该疾病在青少年和成年人中的流行病学及临床表现，以及重要的诊断线索。最后一部分回顾了治疗方法，包括酶替代疗法（EnzRT）的最新报道。
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