Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia.
Transl Pediatr. 2016 Jan;5(1):37-42. doi: 10.3978/j.issn.2224-4336.2015.12.02.
Fabry disease is a rare, progressive X-linked inborn error of the glycosphingolipid metabolic pathway. Mutations of the GLA gene result in deficiency of the lysosomal enzyme, α-galactosidase A (α-Gal A) with accumulation of glycosphingolipids, particularly globotriaosylceramide (GL3) in the vascular endothelium of various tissues. Accumulation of GL3 eventually leads to life threatening renal, cardiac and cerebrovascular complications typically in the third to fifth decades of life. The first signs and symptoms of classic Fabry disease however appear in childhood but diagnosis is often delayed. The symptoms most commonly experienced in childhood include neuropathic pain, gastrointestinal dysfunction, hyperhidrosis and heat intolerance. Timely diagnosis is important as early treatment with enzyme replacement therapy reduces GL3 accumulation, can stabilize disease progression and potentially prevent irreversible organ damage. Physicians should be familiar with the signs and symptoms of Fabry disease in childhood and be particularly vigilant for unusual or non-specific but recurrent or episodic symptoms.
法布瑞氏病是一种罕见的、渐进性的 X 连锁先天性糖脂代谢途径缺陷病。GLA 基因突变导致溶酶体酶α-半乳糖苷酶 A（α-Gal A）缺乏，糖脂，特别是糖鞘脂（GL3）在各种组织的血管内皮中蓄积。GL3 的蓄积最终导致危及生命的肾脏、心脏和脑血管并发症，通常在第三至第五十年出现。然而，经典法布瑞氏病的第一个迹象和症状出现在儿童时期，但诊断常常被延迟。儿童时期最常见的症状包括神经痛、胃肠功能障碍、多汗和不耐热。早期诊断非常重要，因为早期用酶替代疗法治疗可以减少 GL3 的蓄积，稳定疾病的进展，并可能预防不可逆的器官损伤。医生应该熟悉儿童时期法布瑞氏病的体征和症状，并特别警惕不常见或非特异性但反复或间歇性出现的症状。
