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Hokkaido University Collection of Scholarly and Academic Papers >
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Intrafamilial phenotypic distinction of hypophosphatasia with identical tissue nonspecific alkaline phosphatase gene mutation : a family report
| Title: | Intrafamilial phenotypic distinction of hypophosphatasia with identical tissue nonspecific alkaline phosphatase gene mutation : a family report |
| Authors: | Kato, Masaru Browse this author →KAKEN DB | | Hattori, Toshiyuki Browse this author | | Shimizu, Tomohiro Browse this author →KAKEN DB | | Ninagawa, Keita Browse this author | | Izumihara, Rimi Browse this author | | Nomoto, Hiroshi Browse this author →KAKEN DB | | Tanimura, Kazuhide Browse this author | | Atsumi, Tatsuya Browse this author →KAKEN DB |
| Keywords: | Hypophosphatasia | | TNSALP gene | | Denosumab | | Family report |
| Issue Date: | Nov-2020 |
| Publisher: | Springer |
| Journal Title: | Journal of Bone and Mineral Metabolism |
| Volume: | 38 |
| Start Page: | 903 |
| End Page: | 907 |
| Publisher DOI: | 10.1007/s00774-020-01137-7 |
| Abstract: | Hypophosphatasia (HPP) is caused by mutations in the tissue nonspecific alkaline phosphatase (TNSALP) gene in an autosomal recessive or dominant manner and characterized by defective mineralization of bone and low serum ALP levels. In this report, we present a family with HPP mother (case 1) and HPP child (case 2) who have identical TNSALP gene mutation (c.1015G>A p.Gly339Arg heterozygous mutation) but distinct clinical phenotypes. Whereas case 1 appeared to be asymptomatic despite extremely low levels of serum ALP, case 2 had several HPP-related symptoms, such as tooth loss, fractures, short stature, with slightly decreased ALP levels. Upon the diagnosis of HPP, case 1 discontinued denosumab, which was used to treat her rheumatoid arthritis, concerning the risk of atypical femoral fractures. The clinical course of this family was suggestive in a genotype-phenotype imbalance in HPP, the underdiagnosis of HPP in adults, and the risk of atypical femoral fractures using bone resorption inhibitors. |
| Rights: | This is a post-peer-review, pre-copyedit version of an article published in Journal of Bone and Mineral Metabolism. The final authenticated version is available online at: http://dx.doi.org/10.1007/s00774-020-01137-7 |
| Type: | article (author version) |
| URI: | http://hdl.handle.net/2115/83140 |
| Appears in Collections: | 医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)
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Submitter: 加藤 将
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