Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.
Sbarro Institute for Cancer Research and Molecular Medicine, Department of Biology, Temple University, Philadelphia, Pennsylvania, USA.
Clin Genet. 2021 Sep;100(3):239-247. doi: 10.1111/cge.13999. Epub 2021 May 25.
Fabry (or Anderson-Fabry) is a rare pan-ethnic disease affecting males and females. Fabry is an X-linked lysosomal storage disease, affecting glycosphingolipid metabolism, that is caused by mutations of the GLA gene that codes for α-galactosidase A. Fabry disease (FD) can be classified into a severe, classical phenotype, most often seen in men with no residual enzyme activity, that usually appear before 18 years and a usually milder, nonclassical (later-onset) phenotype that usually appear above 18 years. Affected patients show multifactorial complications, including renal failure, cardiovascular problems, and neuropathy. In this review, we briefly report the clinical trials so far performed with the available therapies, and then we focus on the in vitro and the in vivo experimental models of the disease, to highlight the relevance in improving the existing therapeutics and understand the mechanism of this rare disorder. Current available in vivo and in vitro models can assist in better comprehension of the pathogenesis and underlying mechanisms of FD, thus the existing therapeutic approaches can be optimized, and new options can be developed.
法布里病（或安德森-法布里病）是一种罕见的泛种族疾病，影响男性和女性。法布里病是一种 X 连锁溶酶体贮积病，影响糖鞘脂代谢，由编码α-半乳糖苷酶 A 的 GLA 基因突变引起。法布里病（FD）可分为严重的经典表型，最常见于无残留酶活性的男性，通常在 18 岁之前出现，以及通常较轻的非经典（迟发性）表型，通常在 18 岁以上出现。受影响的患者表现出多种并发症，包括肾衰竭、心血管问题和神经病变。在这篇综述中，我们简要报告了迄今为止用现有疗法进行的临床试验，然后重点介绍了疾病的体外和体内实验模型，以突出在改善现有治疗方法和理解这种罕见疾病的发病机制方面的相关性。目前可用的体内和体外模型可以帮助更好地理解 FD 的发病机制和潜在机制，从而优化现有的治疗方法，并开发新的选择。
