Clinical practice guidelines for hypophosphatasia

Toshimi Michigami, Yasuhisa Ohata, Makoto Fujiwara, Hiroshi Mochizuki, Masanori Adachi, Taichi Kitaoka, Takuo Kubota, Hideaki Sawai, Noriyuki Namba, Kosei Hasegawa, Ikuma Fujiwara, Keiichi Ozono

Research output: Contribution to journalArticlepeer-review

20 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)9-24
Number of pages16
Journalclinical pediatric endocrinology
Issue number1
Publication statusPublished - 2020


  • Enzyme replacement therapy
  • Guideline
  • Hypophosphatasia
  • Systematic review

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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