Intrafamilial phenotypic distinction of hypophosphatasia with identical tissue nonspecific alkaline phosphatase gene mutation : a family report

Kato, Masaru; Hattori, Toshiyuki; Shimizu, Tomohiro; Ninagawa, Keita; Izumihara, Rimi; Nomoto, Hiroshi; Tanimura, Kazuhide; Atsumi, Tatsuya

Intrafamilial phenotypic distinction of hypophosphatasia with identical tissue nonspecific alkaline phosphatase gene mutation : a family report

Kato, Masaru; Hattori, Toshiyuki; Shimizu, Tomohiro et al.

Journal of Bone and Mineral Metabolism, 2020, 38, 903-907

Permalink : https://hdl.handle.net/2115/83140

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アクセス権	open access
URI	https://hdl.handle.net/2115/83140
タイトル	Intrafamilial phenotypic distinction of hypophosphatasia with identical tissue nonspecific alkaline phosphatase gene mutation : a family report
著者	Kato, Masaru ; Hattori, Toshiyuki ; Shimizu, Tomohiro ; Ninagawa, Keita ; Izumihara, Rimi ; Nomoto, Hiroshi ; Tanimura, Kazuhide ; Atsumi, Tatsuya
e-Rad_Researcher 10755896 著者名 Kato, Masaru
著者名 Hattori, Toshiyuki
e-Rad_Researcher 60784246 著者名 Shimizu, Tomohiro
著者名 Ninagawa, Keita
著者名 Izumihara, Rimi
e-Rad_Researcher 50862330 著者名 Nomoto, Hiroshi
著者名 Tanimura, Kazuhide
e-Rad_Researcher 20301905 著者名 Atsumi, Tatsuya
言語	英語
キーワード	Hypophosphatasia
	TNSALP gene
	Denosumab
	Family report
発行日	2020-11
出版者	Springer
収録物名	Journal of Bone and Mineral Metabolism
巻(号)	38
ページ	903-907
抄録	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.
資源タイプ	学術雑誌論文
出版タイプ	Accepted Manuscript
権利情報	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
PISSN	0914-8779
関連情報 (isVersionOf)	出版社版DOI https://doi.org/10.1007/s00774-020-01137-7