Q: 什么是法布里病 |
法布里病是一种罕见的遗传性疾病,由于缺乏一种名为α-半乳糖苷酶A的酶而导致。这种酶的缺乏会导致一种名为三酰基鞘氨醇的脂肪在体内细胞中积聚,从而损害包括皮肤、肾脏、心脏和神经系统在内的多种器官。法布里病的症状包括疼痛、皮疹(血管角化瘤)和疲劳等,到更严重的后果如肾功能障碍、心脏病发作和中风。法布里病是X连锁遗传的,主要影响男性,但女性也可能受到影响。 |
Q: What is Fabry disease? |
Fabry disease is a rare genetic disorder caused by the deficiency of an enzyme called alpha-galactosidase A. This enzyme deficiency leads to the buildup of a type of fat called globotriaosylceramide in the body's cells, which can damage various organs including the skin, kidneys, heart, and nervous system. Symptoms of Fabry disease can range from pain, rashes (angiokeratomas), and fatigue to more severe effects such as kidney dysfunction, heart attack, and stroke. Fabry disease is inherited in an X-linked manner, meaning it primarily affects males, though females can also be affected. |