@article{841f9332ecb442d6a3a8ce957488c6b7,
title = "Clinical practice guidelines for hypophosphatasia",
abstract = "Hypophosphatasia (HPP) is a rare bone disease caused by inactivating mutations in the ALPL gene, which encodes tissue-nonspecific alkaline phosphatase (TNSALP). Patients with HPP have varied clinical manifestations and are classified based on the age of onset and severity. Recently, enzyme replacement therapy using bone-targeted recombinant alkaline phosphatase (ALP) has been developed, leading to improvement in the prognosis of patients with life-threatening HPP. Considering these recent advances, clinical practice guidelines have been generated to provide physicians with guides for standard medical care for HPP and to support their clinical decisions. A task force was convened for this purpose, and twenty-one clinical questions (CQs) were formulated, addressing the issues of clinical manifestations and diagnosis (7 CQs) and those of management and treatment (14 CQs). A systematic literature search was conducted using PubMed/MEDLINE, and evidence-based recommendations were developed. The guidelines have been modified according to the evaluations and suggestions from the Clinical Guideline Committee of The Japanese Society for Pediatric Endocrinology (JSPE) and public comments obtained from the members of the JSPE and a Japanese HPP patient group, and then approved by the Board of Councils of the JSPE. We anticipate that the guidelines will be revised regularly and updated.",
keywords = "Enzyme replacement therapy, Guideline, Hypophosphatasia, Systematic review",
author = "Toshimi Michigami and Yasuhisa Ohata and Makoto Fujiwara and Hiroshi Mochizuki and Masanori Adachi and Taichi Kitaoka and Takuo Kubota and Hideaki Sawai and Noriyuki Namba and Kosei Hasegawa and Ikuma Fujiwara and Keiichi Ozono",
note = "Funding Information: HPP can be diagnosed by clinical symptoms and bone X-ray findings that are accompanied by a serum ALP activity lower than the age-specific normal value (2, 7). For the definitive diagnosis, analysis of the ALPL gene that encodes TNSALP is useful. The diagnostic criteria have been prepared by the “Basic and Clinical Studies for Individual Optimization of Treatment for Hypophosphatasia” group as part of a research project funded by a Health and Labour Sciences Research Grant on Intractable Diseases from the Ministry of Health, Labour and Welfare, Japan, and are presented on the website of the Japan Intractable Diseases Information Center (http://www.nanbyou.or.jp/entry/4565). In addition, information provided on the website of the Japanese edition of GeneReviews (GeneReviews Japan; http://grj.umin.jp) is also useful as a reference. Funding Information: The task force was organized by the study group for the research project “Creation of a network for skeletal dysplasia research and care to develop clinical guidelines (Principal Investigator: Keiichi Ozono),” which was funded by the Japan Agency for Medical Research and Development (AMED). Funding Information: The diagnostic criteria (see below) prepared by the “Basic and Clinical Studies for Individual Optimization of Treatment for Hypophosphatasia” Group (Principal Investigator: Keiichi Ozono), a research project funded by a Health and Labour Sciences Research Grant, are presented on the website of the Japan Intractable Diseases Information Center (http://www.nanbyou.or.jp/ entry/4565). Publisher Copyright: {\textcopyright} 2020 by The Japanese Society for Pediatric Endocrinology.",
year = "2020",
doi = "10.1297/cpe.29.9",
language = "English",
volume = "29",
pages = "9--24",
journal = "Clinical Pediatric Endocrinology",
issn = "0918-5739",
publisher = "Jeff Corporation Co. Ltd",
number = "1",
}
