Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment

被引：0

作者：

M. L. Bianchi

N. J. Bishop

N. Guañabens

C. Hofmann

F. Jakob

C. Roux

M. C. Zillikens

机构：

[1] Istituto Auxologico Italiano IRCCS,Laboratorio sperimentale di ricerche sul metabolismo osseo infantile, Centro Malattie Metaboliche Ossee

[2] University of Sheffield,Department of Oncology and Metabolism

[3] Sheffield Children’s NHS Foundation Trust,Servicio de Reumatología, Hospital Clínic

[4] Universidad de Barcelona,Children’s Hospital

[5] IDIBAPS CIBERehd,Orthopedic Centre for Musculoskeletal Research

[6] University of Würzburg,INSERM U1153 APHP Centre

[7] University of Würzburg,Department of Internal Medicine

[8] Université de Paris,undefined

[9] Department of Rheumatology,undefined

[10] Endocrinology Section,undefined

[11] Erasmus Medical Centre,undefined

来源：

Osteoporosis International | 2020年 / 31卷

关键词：

Alkaline phosphatase; Bone; Fractures; Hypomineralization; Hypophosphatasia; Teeth;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

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).

引用

页码：1445 / 1460

页数：15

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