Abrahamov A, Elstein D, Gross-Tsur V, Farber B, Glaser Y, Hadas-Halpern I, Ronen S, Tafakjdi M, Horowitz M, Zimran A
Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel.
Lancet. 1995 Oct 14;346(8981):1000-3. doi: 10.1016/s0140-6736(95)91688-1.
Gaucher's disease is the most prevalent sphingolipid storage disease, characterised by substantial genetic and phenotypic variability. Cardiac manifestations are rare. We report 12 Arab Gaucher's disease patients, 2-20 years of age, who presented with oculomotor apraxia but only slight classic signs of the disease. All but the youngest had calcifications of the aortic or mitral valves or both. All these patients were homozygous for the rare point mutation D409H (1342C). Valvular calcifications increased with age and showed progression during 2 years of follow-up. Two of the oldest patients underwent aortic valve replacement, and one sibling had died suddenly at age 16, before this study, Corneal opacities were another common feature. The potentially fatal course of this Gaucher's disease variant, and the availability of a reliable PCR-based method for heterozygote detection, mean that population screening and genetic counselling in the geographic area at risk are important. Affected individuals should be closely monitored by echocardiography to gauge the need for valve replacement. The potential of enzyme replacement to prevent these cardiac complications cannot be ascertained at present, because of the high cost of therapy.
戈谢病是最常见的鞘脂贮积病，具有显著的遗传和表型变异性。心脏表现较为罕见。我们报告了12例年龄在2至20岁的阿拉伯戈谢病患者，他们表现出眼球运动失用，但仅有轻微的典型疾病体征。除最年幼者外，所有患者均有主动脉瓣或二尖瓣或两者的钙化。所有这些患者均为罕见点突变D409H（1342C）的纯合子。瓣膜钙化随年龄增加，并在2年的随访中出现进展。两名年龄最大的患者接受了主动脉瓣置换，一名同胞在本研究之前的16岁时突然死亡。角膜混浊是另一个常见特征。这种戈谢病变体的潜在致命病程，以及基于聚合酶链反应的可靠杂合子检测方法的可用性，意味着在高危地理区域进行人群筛查和遗传咨询很重要。应通过超声心动图密切监测受影响个体，以评估瓣膜置换的必要性。由于治疗成本高昂，目前无法确定酶替代疗法预防这些心脏并发症的潜力。
