スギヤマ　ヒトシ   杉山　斉    所属   川崎医療短期大学  教育部 医療介護福祉学科    職種   教授
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	Late-onset renal variant Fabry disease with R112H mutation and mild increase in plasma globotriaosylsphingosine: a case report
掲載誌名	正式名：Front Med (Lausanne)
掲載区分	国外
巻・号・頁	Jun 6(11)
著者・共著者	Keiko Tanaka, Hitoshi Sugiyama, Hiroshi Morinaga, Akifumi Onishi, Katsuyuki Tanabe, Haruhito A Uchida, Hiroki Maruyama, Jun Wada
担当区分	2nd著者,責任著者
発行年月	2024/06/06
概要	Fabry disease (FD) is an X-linked disorder resulting in a deficiency of α-galactosidase A (GLA) activity. The R112H mutation of GLA is relatively common in Japanese FD patients, characterized by a late-onset phenotype, almost normal to mild lyso-Gb3 elevation, and mild clinical symptoms, despite low GLA activity. This is due to the structural features of the R112H GLA protein. We herein report the case of a 42-year-old male patient with late-onset FD with a R112H mutation. The patient exhibited only renal involvement with no other organ damage and was successfully treated with galactosidase beta and subsequent migalastat for approximately 10 years. Especially, migalastat was clinically effective in normalizing plasma lyso-Gb3 levels and inhibiting the progression of renal damage associated with FD. Therefore, the use of migalastat in the FD patients with R112H mutation is highly recommended based on this case report.
DOI	10.3389/fmed.2024.1383309.
PMID	38903807