Screening of Male Dialysis Patients for Fabry Disease by Plasma Globotriaosylsphingosine
Screening of Male Dialysis Patients for Fabry Disease by Plasma Globotriaosylsphingosine
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DOI：
10.2215/cjn.08780812
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发表时间：
2013-04-01
影响因子：
9.8
通讯作者：
Ishii, Satoshi
中科院分区：
文献类型：
--
作者：
Maruyama, Hiroki;Takata, Takuma;Ishii, Satoshi
背景和目的以往关于透析患者Fabry病筛查的报道表明，仅靠α-半乳糖苷酶A活性不能特异性和可靠地确定合适的候选基因检测；需要一个用于二次筛查的标志物。据报道，血浆神经鞘氨醇升高是典型的法布里病的特征。设计、设置、参与者和测量：本研究在2010年7月1日至2011年7月31日期间对新泻县的1453名患者进行了筛查，占男性透析患者总数的50%。用高效液相色谱法测定血浆α-半乳糖苷酶A酶活性和球三糖鞘氨醇浓度，筛查Fabry病。结果低水平血浆α-半乳糖苷酶A活性(
Background and objectives Previous reports of Fabry disease screening in dialysis patients indicate that a-galactosidase A activity alone cannot specifically and reliably identify appropriate candidates for genetic testing; a marker for secondary screening is required. Elevated plasma globotriaosylsphingosine is reported to be a hallmark of classic Fabry disease. The purpose of this study was to examine the usefulness of globotriaosylsphingosine as a secondary screening target for Fabry disease.Design, setting, participants, & measurements This study screened 1453 patients, comprising 50% of the male dialysis patients in Niigata Prefecture between July 1, 2010 and July 31, 2011. Screening for Fabry disease was performed by measuring the plasma alpha-galactosidase A enzyme activity and the globotriaosylsphingosine concentration, by high-performance liquid chromatography. Genetic testing and genetic counseling were provided.Results A low level of plasma alpha-galactosidase A activity (