Colomba Paolo, Zizzo Carmela, Alessandro Riccardo, Cammarata Giuseppe, Scalia Simone, Giordano Antonello, Pieroni Maurizio, Sicurella Luigi, Amico Luisa, Burlina Alessandro, Duro Giovanni
National Research Council, Institute of Biomedicine and Molecular Immunology "A. Monroy", Palermo, Italy.
Department of Biopathology and Medical Biotechnology, Biology and Genetics Section, University of Palermo, Palermo, Italy.
Oncotarget. 2018 Jan 5;9(8):7758-7762. doi: 10.18632/oncotarget.23970. eCollection 2018 Jan 30.
Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by α galactosidase A (α-gal A) deficiency. Central nervous system involvement and chronic white matter lesions are observed in both FD and multiple sclerosis (MS), which can confound the differential diagnosis. We analyzed the gene, which encodes α-gal A, in 86 patients with clinical and neuroradiological findings consistent with MS to determine whether they had FD. We identified four women initially diagnosed with MS who had mutations associated with FD. Our results indicate that family history besides neurological findings should be evaluated in patients with an uncertain diagnosis of MS. Also the involvement of organs outside the central nervous system can support the FD diagnosis.
法布里病（FD）是一种由α半乳糖苷酶A（α-gal A）缺乏引起的X连锁遗传性溶酶体贮积症。在法布里病和多发性硬化症（MS）中均观察到中枢神经系统受累和慢性白质病变，这可能会混淆鉴别诊断。我们对86例临床和神经放射学表现与MS一致的患者进行了编码α-gal A的基因分析，以确定他们是否患有法布里病。我们确定了4名最初被诊断为MS的女性，她们携带与法布里病相关的突变。我们的结果表明，对于诊断不明确的MS患者，除了神经系统检查结果外，还应评估家族史。此外，中枢神经系统以外器官的受累情况也有助于法布里病的诊断。
