[Updated on Apr. 18] Integration of CiNii Articles into CiNii Research

Clinical Practice Guidelines for Achondroplasia*

DOI Web Site 72 References Open Access
  • Kubota Takuo
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan Guidelines Development Committee for Achondroplasia
  • Adachi Masanori
    Department of Endocrinology and Metabolism, Kanagawa Children’s Medical Center, Yokohama, Japan Guidelines Development Committee for Achondroplasia
  • Kitaoka Taichi
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan Guidelines Development Committee for Achondroplasia
  • Hasegawa Kosei
    Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmacological Sciences, Okayama, Japan Guidelines Development Committee for Achondroplasia
  • Ohata Yasuhisa
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan Guidelines Development Committee for Achondroplasia
  • Fujiwara Makoto
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan Guidelines Development Committee for Achondroplasia
  • Michigami Toshimi
    Department of Bone and Mineral Research, Research Institute, Osaka Women’s and Children’s Hospital, Osaka Prefectural Hospital Organization, Osaka, Japan Guidelines Development Committee for Achondroplasia
  • Mochizuki Hiroshi
    Division of Endocrinology and Metabolism, Saitama Children’s Medical Center, Saitama, Japan Guidelines Development Committee for Achondroplasia
  • Ozono Keiichi
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan Guidelines Development Committee for Achondroplasia

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Abstract

<p>Achondroplasia (ACH) is a skeletal dysplasia that presents with limb shortening, short stature, and characteristic facial configuration. ACH is caused by mutations of the FGFR3 gene, leading to constantly activated FGFR3 and activation of its downstream intracellular signaling pathway. This results in the suppression of chondrocyte differentiation and proliferation, which in turn impairs endochondral ossification and causes short-limb short stature. ACH also causes characteristic clinical symptoms, including foramen magnum narrowing, ventricular enlargement, sleep apnea, upper airway stenosis, otitis media, a narrow thorax, spinal canal stenosis, spinal kyphosis, and deformities of the lower extremities. Although outside Japan, papers on health supervision are available, they are based on reports and questionnaire survey results. Considering the scarcity of high levels of evidence and clinical guidelines for patients with ACH, clinical practical guidelines have been developed to assist both healthcare professionals and patients in making appropriate decisions in specific clinical situations. Eleven clinical questions were established and a systematic literature search was conducted using PubMed/MEDLINE. Evidence-based recommendations were developed, and the guidelines describe the recommendations related to the clinical management of ACH. We anticipate that these clinical practice guidelines for ACH will be useful for healthcare professionals and patients alike.</p>

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