著者

Saori Yamamoto Tasuku Nagasawa Koichiro Sugimura Atuhiro Kanno Shunsuke Tatebe Tatsuo Aoki Haruka Sato Katsuya Kozu Ryo Konno Kotaro Nochioka Kimio Sato Hiroaki Shimokawa

出版者

The Japanese Society of Internal Medicine

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

pp.0959-18, (Released:2018-10-17)

参考文献数

16

被引用文献数

7

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Anderson-Fabry disease (AFD) is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme α-galactosidase A (α-GAL A). We herein report 10 cases of AFD in 5 families (3 men and 7 women) that were found to have a specific common mutation in R301Q (G-to-A transition in exon 6 [codon 301] resulting in the replacement of a glutamine with an arginine residue). We evaluated their clinical characteristics, residual enzymatic activity, and plasma concentrations of globotriaosylsphingosine (Lyso-Gb3). Although all 10 cases had cardiac and renal manifestations in common, their clinical manifestations were markedly divergent despite the same genetic abnormality.