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- Kubota Takuo
- Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan Guidelines Development Committee for Achondroplasia
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- Adachi Masanori
- Department of Endocrinology and Metabolism, Kanagawa Children’s Medical Center, Yokohama, Japan Guidelines Development Committee for Achondroplasia
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- Kitaoka Taichi
- Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan Guidelines Development Committee for Achondroplasia
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- Hasegawa Kosei
- Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmacological Sciences, Okayama, Japan Guidelines Development Committee for Achondroplasia
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- Ohata Yasuhisa
- Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan Guidelines Development Committee for Achondroplasia
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- Fujiwara Makoto
- Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan Guidelines Development Committee for Achondroplasia
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- 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
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- Mochizuki Hiroshi
- Division of Endocrinology and Metabolism, Saitama Children’s Medical Center, Saitama, Japan Guidelines Development Committee for Achondroplasia
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- Ozono Keiichi
- Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan Guidelines Development Committee for Achondroplasia
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<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>
収録刊行物
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- Clinical Pediatric Endocrinology
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Clinical Pediatric Endocrinology 29 (1), 25-42, 2020
日本小児内分泌学会
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詳細情報
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- CRID
- 1390283659838679424
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- NII論文ID
- 130007783623
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- ISSN
- 13477358
- 09185739
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- 本文言語コード
- en
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- データソース種別
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- JaLC
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- KAKEN
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