摘要患者,男,48岁,BMI 25.7 kg/m2,因"反复气短9年,加重1个月"于2019年12月5日入院。2011年7月因劳累后气短,行心电图检查示窦性心律,左室高电压,ST-T段改变;心脏彩超示室间隔13 mm, 左室后壁13 mm, 左室射血分数(LVEF)66%,中度二尖瓣返流,左室舒张功能减退;冠状动脉CT血管造影(CTA)未见异常,未予重视。
6Desnick RJ, Ioannou YA, Eng CM. Alpha galactosidase A deficiency: Fabry disease//Scriver CR, Beaudet AL, Sly WS, et al. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001:3733-3774.
8Ashton-Prella P, Tong B, Shabbeer J, et al. Fabry disease : twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J Investig Med, 2000, 48 : 227-235.
9Shabbeer J, Yasuda M, Benson SD, et al. Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. Hum Genomics, 2006, 2: 297-309.
10Zhang SH, Liu ZI-I, Zeng CH, et al. Fabry disease: renal biopsy- proven cases from China. J Nephrol,2007, 20: 716-726.