Zarate Yuri A, Hopkin Robert J
Cincinnati Children's Hospital Medical Center, Division of Human Genetics, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Lancet. 2008 Oct 18;372(9647):1427-35. doi: 10.1016/S0140-6736(08)61589-5.
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in alpha-galactosidase A. The consequent abnormal accumulation of glycosphingolipids results in several clinical signs and symptoms and substantial morbidity and mortality. This review covers all basic aspects of the disease such as epidemiology, pathophysiology, clinical presentation by systems, diagnosis, management, prevention, and repercussions on quality of life. With the development of enzyme replacement therapy in the past few years, early initiation of treatment is key for improvement in major affected organs with decreased cardiac mass and stabilisation of kidney function, and improvement in neuropathic pain, sweating, gastrointestinal symptoms, hearing loss, and pulmonary symptoms. However, treatment of individual symptoms in addition to enzyme replacement therapy seems to be needed for many patients, especially those who have had some degree of organ dysfunction. Additional data are needed to document long-term treatment outcomes.
法布里病是一种X连锁溶酶体贮积症，由GLA基因突变引起，导致α-半乳糖苷酶A缺乏。由此导致的糖鞘脂异常蓄积会引发多种临床体征和症状，并造成严重的发病和死亡。本综述涵盖了该疾病的所有基本方面，如流行病学、病理生理学、各系统临床表现、诊断、管理、预防以及对生活质量的影响。在过去几年中，随着酶替代疗法的发展，早期开始治疗对于改善主要受累器官（如减轻心脏重量、稳定肾功能）以及改善神经性疼痛、出汗、胃肠道症状、听力损失和肺部症状至关重要。然而，许多患者似乎除了酶替代疗法外还需要针对个体症状进行治疗，尤其是那些已经出现一定程度器官功能障碍的患者。需要更多数据来记录长期治疗结果。
