Beirão Idalina, Cabrita Ana, Torres Márcia, Silva Fernando, Aguiar Patrício, Laranjeira Francisco, Gomes Ana Marta
Service of Nephrology, Centro Hospitalar do Porto, 4099-001 Porto, Portugal.
Biomedical Sciences Institute of Abel Salazar, University of Porto, 4050-313 Porto, Portugal.
Diseases. 2017 Jun 11;5(2):15. doi: 10.3390/diseases5020015.
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature on biomarkers and imaging findings of AFD patients. An extensive bibliographic review from PubMed, Medline and Clinical Key databases was performed by a group of experts from nephrology, neurology, genetics, cardiology and internal medicine, aiming for consensus. Lyso-GB3 is a valuable biomarker to establish the diagnosis. Proteinuria and creatinine are the most valuable to detect renal damage. Troponin I and high-sensitivity assays for cardiac troponin T can identify patients with cardiac lesions, but new techniques of cardiac imaging are essential to detect incipient damage. Specific cerebrovascular imaging findings are present in AFD patients. Techniques as metabolomics and proteomics have been developed in order to find an AFD fingerprint. Lyso-GB3 is important for evaluating the pathogenic mutations and monitoring the response to treatment. Many biomarkers can detect renal, cardiac and cerebrovascular involvement, but none of these have proved to be important to monitoring the response to treatment. Imaging features are preferred in order to find cardiac and cerebrovascular compromise in AFD patients.
安德森-法布里病（AFD）是一种X连锁溶酶体贮积症，由α-半乳糖苷酶A活性缺乏或缺失引起，导致糖鞘脂蓄积。生物标志物和影像学检查结果可能有助于诊断、确定器官受累情况、监测治疗及判断预后。本文旨在综述目前关于AFD患者生物标志物和影像学检查结果的文献。一组来自肾脏病学、神经病学、遗传学、心脏病学和内科的专家对PubMed、Medline和Clinical Key数据库进行了广泛的文献综述，以达成共识。溶血型Gb3是用于确诊的重要生物标志物。蛋白尿和肌酐对于检测肾损害最有价值。肌钙蛋白I和心肌肌钙蛋白T的高敏检测可识别有心脏病变的患者，但心脏成像新技术对于检测早期损害至关重要。AFD患者存在特定的脑血管影像学表现。代谢组学和蛋白质组学等技术已得到发展，以寻找AFD的特征。溶血型Gb3对于评估致病突变和监测治疗反应很重要。许多生物标志物可检测肾、心脏和脑血管受累情况，但这些生物标志物均未被证明对监测治疗反应很重要。为发现AFD患者的心脏和脑血管损害，影像学特征更受青睐。
