著者

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

出版者

The Japanese Society for Pediatric Endocrinology

雑誌

Clinical Pediatric Endocrinology (ISSN:09185739)

巻号頁・発行日

vol.29, no.1, pp.9-24, 2020 (Released:2020-01-09)

参考文献数

48

被引用文献数

28

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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.

著者

Takuo Kubota Masanori Adachi Taichi Kitaoka Kosei Hasegawa Yasuhisa Ohata Makoto Fujiwara Toshimi Michigami Hiroshi Mochizuki Keiichi Ozono

出版者

The Japanese Society for Pediatric Endocrinology

雑誌

Clinical Pediatric Endocrinology (ISSN:09185739)

巻号頁・発行日

vol.29, no.1, pp.25-42, 2020 (Released:2020-01-09)

参考文献数

79

被引用文献数

19

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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.

著者

Hiroyuki Koyama Satoshi Yasuda Shota Kakoi Yasuhisa Ohata Yuki Shimizu Chie Hasegawa Akiko Hayakawa Tomoyuki Akiyama Takashi Yagi Daisuke Aotani Kenro Imaeda Keiichi Ozono Hiromi Kataoka Tomohiro Tanaka

出版者

The Japanese Society of Internal Medicine

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

pp.3298-19, (Released:2019-11-29)

参考文献数

24

被引用文献数

8

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A 40-year-old Japanese woman presented to our hospital with general fatigue and muscle weakness. She had a history of premature loss of deciduous teeth at 4 years old, her serum alkaline phosphatase (ALP) activity was as low as 91 U/L, and radiologic studies revealed thoracic deformity and sacroiliac calcification. Genetic sequencing revealed a heterozygous c.1559delT mutation in the tissue non-specific alkaline phosphatase gene (ALPL). Based on these findings, she was diagnosed with hypophosphatasia (HPP), and treatment with asfotase alfa, a recombinant human tissue-nonspecific alkaline phosphatase (TNSALP), was initiated. After six months of treatment with asfotase alfa, improvements were observed in the SF-36 score, six-minute walk distance, and grasping power. Although the overdiagnosis needs to be avoided, HPP should be considered in patients with undiagnosed musculoskeletal symptoms and a low serum ALP activity.