Lappegård K T, Aass H
Medisinsk avdeling Nordland Sentralsykehus 8092 Bodø.
Tidsskr Nor Laegeforen. 2000 Aug 30;120(20):2395-6.
Fabry's disease is an X-linked inborn error of metabolism. The patients lack or have very low activity of the enzyme alpha-galactosidase A. This results in deposition of sphingolipids in endothelial cells and vascular smooth muscle cells; thus the disease can affect nearly every organ in the body. Renal failure is the most common cause of death, but cardiac involvement is frequent.
We describe two brothers with Fabry's disease and provide a review of the literature in the field.
Both patients had extensive electro- and echocardiographic findings.
Fabry's disease should be suspected in men with unexplained electro- and/or echocardiographic signs of left ventricular hypertrophy and a short PQ interval in the ECG.
法布里病是一种X连锁的先天性代谢缺陷病。患者缺乏α-半乳糖苷酶A或其活性极低。这导致鞘脂在内皮细胞和血管平滑肌细胞中沉积；因此该疾病可影响身体几乎每个器官。肾衰竭是最常见的死亡原因，但心脏受累也很常见。
我们描述了两名患有法布里病的兄弟，并对该领域的文献进行了综述。
两名患者均有广泛的心电图和超声心动图表现。
对于有不明原因的心电图和/或超声心动图显示左心室肥厚且心电图PQ间期短的男性，应怀疑患有法布里病。
