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タイトル: | A Case with Spondyloenchondrodysplasia Treated with Growth Hormone |
著者: | Utsumi, Takanori Okada, Satoshi Izawa, Kazushi https://orcid.org/0000-0003-1080-0936 (unconfirmed) Honda, Yoshitaka https://orcid.org/0000-0001-6273-0648 (unconfirmed) Nishimura, Gen Nishikomori, Ryuta Okano, Rika Kobayashi, Masao |
著者名の別形: | 井澤, 和司 本田, 吉孝 西小森, 隆太 |
キーワード: | spondyloenchondrodysplasia ACP5 growth hormone deficiency growth hormone therapy skeletal dysplasia |
発行日: | 10-Jul-2017 |
出版者: | Frontiers Media SA |
誌名: | Frontiers in Endocrinology |
巻: | 8 |
論文番号: | 157 |
抄録: | Spondyloenchondrodysplasia (SPENCD) is an autosomal recessive skeletal dysplasia caused by loss of function mutations in acid phosphatase 5, tartrate resistant (ACP5). Hypomorphic ACP5 mutations impair endochondral bone growth and create an interferon (INF) signature, which lead to distinctive spondylar and metaphyseal dysplasias, and extraskeletal morbidity, such as neurological involvement and immune dysregulation, respectively. We report an affected boy with novel ACP5 mutations, a splice-site mutation (736-2 A>C) and a nonsense mutation (R176X). He presented with postnatal short stature, which led to a diagnosis of partial growth hormone (GH) deficiency at 3 years of age. GH therapy was beneficial in accelerating his growth velocity. At 6 years of age, however, metaphyseal abnormalities of the knee attracted medical attention, and subsequent assessment ascertained the typical skeletal phenotype of SPENCD, brain calcifications, and an INF signature. This anecdotal experience indicates the potential efficacy of GH for growth failure in SPENCD. |
著作権等: | © 2017 Utsumi, Okada, Izawa, Honda, Nishimura, Nishikomori, Okano and Kobayashi. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
URI: | http://hdl.handle.net/2433/226639 |
DOI(出版社版): | 10.3389/fendo.2017.00157 |
PubMed ID: | 28740483 |
出現コレクション: | 学術雑誌掲載論文等 |
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