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Clinical Practice Guidelines for Hypophosphatasia*

  • Michigami Toshimi
    Department of Bone and Mineral Research, Research Institute, Osaka Women’s and Children’s Hospital, Osaka Prefectural Hospital Organization, Osaka, Japan Task Force for Hypophosphatasia Guidelines
  • Ohata Yasuhisa
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan Task Force for Hypophosphatasia Guidelines
  • Fujiwara Makoto
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan Task Force for Hypophosphatasia Guidelines
  • Mochizuki Hiroshi
    Division of Endocrinology and Metabolism, Saitama Children’s Medical Center, Saitama, Japan Task Force for Hypophosphatasia Guidelines
  • Adachi Masanori
    Department of Endocrinology and Metabolism, Kanagawa Children’s Medical Center, Kanagawa, Japan Task Force for Hypophosphatasia Guidelines
  • Kitaoka Taichi
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan Task Force for Hypophosphatasia Guidelines
  • Kubota Takuo
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan Task Force for Hypophosphatasia Guidelines
  • Sawai Hideaki
    Department of Obstetrics and Gynecology, Hyogo College of Medicine, Hyogo, Japan Task Force for Hypophosphatasia Guidelines
  • Namba Noriyuki
    Division of Pediatrics and Perinatology, Tottori University Faculty of Medicine, Tottori, Japan Task Force for Hypophosphatasia Guidelines
  • Hasegawa Kosei
    Department of Pediatrics, Okayama University Hospital, Okayama, Japan Task Force for Hypophosphatasia Guidelines
  • Fujiwara Ikuma
    Department of Pediatrics, Sendai City Hospital, Miyagi, Japan Task Force for Hypophosphatasia Guidelines
  • Ozono Keiichi
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan Task Force for Hypophosphatasia Guidelines

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Abstract

<p>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.</p>

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