Eng Christine M, Germain Dominique P, Banikazemi Maryam, Warnock David G, Wanner Christoph, Hopkin Robert J, Bultas Jan, Lee Philip, Sims Katherine, Brodie Scott E, Pastores Gregory M, Strotmann Joerg M, Wilcox William R
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
Genet Med. 2006 Sep;8(9):539-48. doi: 10.1097/01.gim.0000237866.70357.c6.
Fabry disease is an X-linked metabolic storage disorder due to the deficiency of lysosomal alpha-galactosidase A, and the subsequent accumulation of glycosphingolipids, primarily globotriaosylceramide, throughout the body. Males with classical Fabry disease develop early symptoms including pain and hypohidrosis by the second decade of life reflecting disease progression in the peripheral and autonomic nervous systems. An insidious cascade of disease processes ultimately results in severe renal, cardiac, and central nervous system complications in adulthood. The late complications are the main cause of late morbidity, as well as premature mortality. Disease presentation in female heterozygotes may be as severe as in males although women may also remain asymptomatic. The recent introduction of enzyme replacement therapy to address the underlying pathophysiology of Fabry disease has focused attention on the need for comprehensive, multidisciplinary evaluation and management of the multi-organ system involvement. In anticipation of evidence-based recommendations, an international panel of physicians with expertise in Fabry disease has proposed guidelines for the recognition, evaluation, and surveillance of disease-associated morbidities, as well as therapeutic strategies, including enzyme replacement and other adjunctive therapies, to optimize patient outcomes.
法布里病是一种X连锁代谢性贮积病，由于溶酶体α-半乳糖苷酶A缺乏，导致糖鞘脂（主要是Globotriaosylceramide）在全身蓄积。患有典型法布里病的男性在生命的第二个十年就会出现早期症状，包括疼痛和少汗，这反映了外周和自主神经系统的疾病进展。一系列隐匿的疾病过程最终会在成年期导致严重的肾脏、心脏和中枢神经系统并发症。晚期并发症是晚期发病以及过早死亡的主要原因。女性杂合子的疾病表现可能与男性一样严重，尽管女性也可能没有症状。最近引入的酶替代疗法旨在解决法布里病的潜在病理生理学问题，这使得人们将注意力集中在对多器官系统受累进行全面、多学科评估和管理的必要性上。为了提出基于证据的建议，一个由法布里病专家组成的国际医生小组提出了关于疾病相关发病率的识别、评估和监测的指南，以及包括酶替代和其他辅助疗法在内的治疗策略，以优化患者预后。
