Fabry cardiomyopathy.
Fabry cardiomyopathy.
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DOI：
10.4250/jcu.2013.21.1.26
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发表时间：
2013-03
期刊：
影响因子：
--
通讯作者：
Chae SC
中科院分区：
文献类型：
--
作者：
Yoon JY;Song JH;Cheon SS;Cho HJ;Bae MH;Lee JH;Yang DH;Park HS;Cho Y;Chae SC
法布里病是一种由α-半乳糖苷酶溶酶体酶缺乏引起的进行性X连锁鞘糖脂代谢疾病。溶酶体酶的部分或完全缺乏导致中性鞘糖脂在整个身体的血管内皮和内脏组织中积累。在心脏中，鞘糖脂沉积导致进行性左心室肥大（LVH）。我们报告一个法布里病的病例，这是怀疑基于二维超声心动图发现左室肥厚。一位44岁的男性因劳力性呼吸困难加重而入院评估，持续两周。他在41岁时被诊断出患有病因不明的终末期肾病，同年接受了肾移植。患者接受口服免疫抑制剂治疗。住院第二天，经胸超声心动图显示同心性LVH。左心室收缩功能得以保留，但存在舒张功能障碍。通过证实血浆α-半乳糖苷酶A（α-Gal A）活性低证实了法布里病。基因组DNA分析显示α-Gal A基因突变。患者被诊断为法布里病。
Fabry disease is a progressive X-linked disorder of glycosphingolipid metabolism caused by a deficiency of the α-galactosidase lysosomal enzyme. The partial or complete deficiency of the lysosomal enzyme leads to an accumulation of neutral glycosphingolipids in the vascular endothelium and visceral tissues throughout the body. In the heart, glycosphingolipids deposition causes progressive left ventricular hypertrophy (LVH). We report a case of Fabry disease which was suspected based upon two-dimensional echocardiographic finding of LVH. A 44-year-old man was admitted to evaluation of aggravated exertional dyspnea of two weeks duration. He had been diagnosed with end-stage renal disease of unknown etiology at age 41 followed by renal transplantation that year. He had been treated with oral immunosuppressive agents. On hospital day two, transthoracic echocardiography revealed concentric LVH. Left ventricular systolic function was preserved but diastolic dysfunction was present. Fabry disease was confirmed by demonstration of a low plasma α-galactosidase A (α-Gal A) activity. Analysis of genomic DNA showed α-Gal A gene mutation. The patient was diagnosed with Fabry disease.