Yamamoto Saori, Nagasawa Tasuku, Sugimura Koichiro, Kanno Atsuhiro, Tatebe Shunsuke, Aoki Tatsuo, Sato Haruka, Kozu Katsuya, Konno Ryo, Nochioka Kotaro, Satoh Kimio, Shimokawa Hiroaki
Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan.
Department of Nephrology, Japanese Red Cross Ishinomaki Hospital, Japan.
Intern Med. 2019 Feb 15;58(4):603-607. doi: 10.2169/internalmedicine.0959-18. Epub 2018 Oct 17.
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.
安德森-法布里病（AFD）是一种罕见的X连锁疾病，由溶酶体酶α-半乳糖苷酶A（α-GAL A）活性缺乏引起。我们在此报告5个家族中的10例AFD患者（3名男性和7名女性），发现他们在R301Q存在特定的共同突变[外显子6（密码子301）中的G到A转换，导致谷氨酰胺被精氨酸残基取代]。我们评估了他们的临床特征、残余酶活性以及血浆中球三糖神经鞘脂（Lyso-Gb3）的浓度。尽管所有10例患者都有共同的心脏和肾脏表现，但尽管基因异常相同，他们的临床表现却明显不同。
