法布里病
医学
心脏病学
酶替代疗法
内科学
疾病
法布里病
球三糖神经酰胺
重症监护医学
作者
Yuksel Cavusoglu,Ebru Özpelit,Nur Arslan,Mesut Demir,Gökhan Kahveci,Hüseyin Onay,Emir Barış Ökçün,Omac Tufekcioglu,Selcen Yakar Tülüce,Gonca Kılıç Yıldırım
出处
期刊:Türk Kardiyoloji Derneği arşivi : Türk Kardiyoloji Derneğinin yayın organıdır
日期:2021-06-16
卷期号:48: 1-42
标识
DOI:10.5543/tkda.2020.38262
摘要
Fabry disease is a rare, progressive, X-linked inherited storage disorder due to absent or deficient of lysosomal alfa galactosidase A activity. Deficient activity of alfa-galactosidase A results in progressive accumulation of globotriaosylceramide in a variety of tissues and organs including myocardium, kidney and nerve system. This disorder predominantly affects males; however, female heterozygotes may also be affected with a less severe clinical picture. Classic Fabry disease is usually diagnosed in early age of childhood because of multiorgan involvement whereas cardiac and renal variants of Fabry are manifested in 30-50 years of age because of late onset of clinical picture in which other organs involvement are uncommon. Although Fabry is known as a very rare disease, its prevalence is reported to be higher in patients with ventricular hypertrophy, chronic kidney disease and cryptogenic stroke. From the cardiology point of view, the most important key finding of the disease is unexplained ventricular hypertrophy. However, in clinical practice, ventricular hypertrophy is usually thought to be due to hypertrophic cardiomyopathy in the absence of hypertension or aortic stenosis and Fabry disease is often undiagnosed or overlooked. Early diagnosis and enzyme replacement therapy have been shown to significantly improve prognosis. The aim of this paper is to provide a comprehensive review including epidemiology, prognosis, clinical presentation, diagnosis and therapeutic approaches of cardiac variant of Fabry based on the available data in the literature.
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