Auray-Blais Christiane, Lavoie Pamela, Boutin Michel, Abaoui Mona
Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de recherche du CHUS, Université de Sherbrooke, Sherbrooke, Quebec, Canada.
Curr Protoc Hum Genet. 2017 Apr 6;93:17.26.1-17.26.12. doi: 10.1002/cphg.34.
Fabry disease is a complex, panethnic lysosomal storage disorder. It is characterized by the accumulation of glycosphingolipids in tissues, organs, the vascular endothelium, and biological fluids. The reported incidence in different populations is quite variable, ranging from 1:1400 to 1:117,000. Its complexity lies in the marked genotypic and phenotypic heterogeneity. Despite the fact that it is an X-linked disease, more than 600 mutations affect both males and females. In fact, some females may be affected as severely as males. The purpose of this protocol is to focus on the high-risk screening of patients who might have Fabry disease using a simple, rapid, non-invasive high performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) method for urinary globotriaosylceramide (Gb ) analysis. Urine filter paper samples are easily collected at home by patients and sent by regular mail. This method has been successfully used for high-risk screening of patients with ophthalmologic manifestations and in an on-going study for high-risk screening of Fabry disease in patients with chronic kidney diseases. © 2017 by John Wiley & Sons, Inc.
法布里病是一种复杂的、全种族的溶酶体贮积症。其特征是糖鞘脂在组织、器官、血管内皮和生物体液中蓄积。不同人群中报道的发病率差异很大，范围从1:1400到1:117,000。其复杂性在于显著的基因型和表型异质性。尽管它是一种X连锁疾病，但超过600种突变会影响男性和女性。事实上，一些女性可能与男性受影响程度一样严重。本方案的目的是使用一种简单、快速、非侵入性的高效液相色谱-串联质谱（HPLC-MS/MS）方法对尿中球三糖神经酰胺（Gb）进行分析，重点关注可能患有法布里病患者的高危筛查。尿液滤纸样本由患者在家中轻松采集并通过平邮寄送。该方法已成功用于对有眼科表现的患者进行高危筛查，并正在用于对慢性肾病患者进行法布里病高危筛查的研究。© 2017约翰威立国际出版公司
