{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T14:45:30Z","timestamp":1786373130115,"version":"build-2736575974"},"reference-count":27,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,4]]},"abstract":"Summary<\/jats:title>\n \n Background and objectives<\/jats:title>\n \n Previous reports of Fabry disease screening in dialysis patients indicate that\n \u03b1<\/jats:italic>\n -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.\n <\/jats:p>\n <\/jats:sec>\n \n Design, setting, participants, & measurements<\/jats:title>\n \n 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\n \u03b1<\/jats:italic>\n -galactosidase A enzyme activity and the globotriaosylsphingosine concentration, by high-performance liquid chromatography. Genetic testing and genetic counseling were provided.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n A low level of plasma\n \u03b1<\/jats:italic>\n -galactosidase A activity (\u22644.0 nmol\/h per milliliter) was observed in 47 patients (3.2%). Of these, 3 (0.2%) had detectable globotriaosylsphingosine levels. These patients all had\n \u03b1-galactosidase A<\/jats:italic>\n gene mutations: one was p.Y173X and two were the nonpathogenic p.E66Q. The patient with p.Y173X started enzyme replacement therapy. Subsequent screening of his family identified the same mutation in his elder sister and her children. Genetic testing for 33 of the other 44 patients detected 7 patients with p.E66Q. Thus, the plasma lyso-Gb3 screen identified Fabry disease with high sensitivity (100%) and specificity (94.3%).\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n Plasma globotriaosylsphingosine is a promising secondary screening target that was effective for selecting candidates for genetic counseling and testing and for uncovering unrecognized Fabry disease cases.<\/jats:p>\n <\/jats:sec>","DOI":"10.2215\/cjn.08780812","type":"journal-article","created":{"date-parts":[[2013,1,11]],"date-time":"2013-01-11T00:47:38Z","timestamp":1357865258000},"page":"629-636","source":"Crossref","is-referenced-by-count":34,"title":["Screening of Male Dialysis Patients for Fabry Disease by Plasma Globotriaosylsphingosine"],"prefix":"10.2215","volume":"8","author":[{"given":"Hiroki","family":"Maruyama","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takuma","family":"Takata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yutaka","family":"Tsubata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryushi","family":"Tazawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyoe","family":"Goto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Tohyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichiei","family":"Narita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidekatsu","family":"Yoshioka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Ishii","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-18-20230811","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1056\/NEJM196705252762101","article-title":"Enzymatic defect in Fabry\u2019s disease. Ceramidetrihexosidase deficiency.","volume":"276","author":"Brady","year":"1967","journal-title":"N Engl J Med"},{"key":"R2-18-20230811","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1007\/s101570050061","article-title":"Fabry disease in patients receiving maintenance dialysis.","volume":"4","author":"Utsumi","year":"2000","journal-title":"Clin Exp Nephrol"},{"key":"R3-18-20230811","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1046\/j.1523-1755.2003.00160.x","article-title":"Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a \u201crenal variant\u201d phenotype.","volume":"64","author":"Nakao","year":"2003","journal-title":"Kidney Int"},{"key":"R4-18-20230811","doi-asserted-by":"crossref","first-page":"1581","DOI":"10.1093\/ndt\/gfg194","article-title":"\u03b1-Galactosidase A deficiency in Dutch patients on dialysis: A critical appraisal of screening for Fabry disease.","volume":"18","author":"Linthorst","year":"2003","journal-title":"Nephrol Dial Transplant"},{"key":"R5-18-20230811","doi-asserted-by":"crossref","first-page":"1323","DOI":"10.1097\/01.ASN.0000124671.61963.1E","article-title":"Results of a nationwide screening for Anderson-Fabry disease among dialysis patients.","volume":"15","author":"Kotanko","year":"2004","journal-title":"J Am Soc Nephrol"},{"key":"R6-18-20230811","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1007\/s10157-005-0369-4","article-title":"Significance of screening for Fabry disease among male dialysis patients.","volume":"9","author":"Ichinose","year":"2005","journal-title":"Clin Exp Nephrol"},{"key":"R7-18-20230811","doi-asserted-by":"crossref","first-page":"281","DOI":"10.5414\/CNP64281","article-title":"Identification of Fabry\u2019s disease by the screening of \u03b1-galactosidase A activity in male and female hemodialysis patients.","volume":"64","author":"Tanaka","year":"2005","journal-title":"Clin Nephrol"},{"key":"R8-18-20230811","doi-asserted-by":"crossref","first-page":"c33","DOI":"10.1159\/000085709","article-title":"Fabry disease in patients with end-stage renal failure: The potential benefits of screening.","volume":"101","author":"Bekri","year":"2005","journal-title":"Nephron Clin Pract"},{"key":"R9-18-20230811","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1093\/ndt\/gfl528","article-title":"A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population.","volume":"22","author":"Merta","year":"2007","journal-title":"Nephrol Dial Transplant"},{"key":"R10-18-20230811","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1159\/000250968","article-title":"Prevalence and cardiovascular features of Japanese hemodialysis patients with Fabry disease.","volume":"30","author":"Fujii","year":"2009","journal-title":"Am J Nephrol"},{"key":"R11-18-20230811","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/1471-2350-11-19","article-title":"Frequency of Fabry disease in male and female haemodialysis patients in Spain.","volume":"11","author":"Gaspar","year":"2010","journal-title":"BMC Med Genet"},{"key":"R12-18-20230811","doi-asserted-by":"crossref","first-page":"2812","DOI":"10.1073\/pnas.0712309105","article-title":"Elevated globotriaosylsphingosine is a hallmark of Fabry disease.","volume":"105","author":"Aerts","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R13-18-20230811","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.ymgme.2010.03.020","article-title":"Plasma globotriaosylsphingosine as a biomarker of Fabry disease.","volume":"100","author":"Togawa","year":"2010","journal-title":"Mol Genet Metab"},{"key":"R14-18-20230811","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1016\/j.bbadis.2010.05.003","article-title":"Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease.","volume":"1802","author":"Rombach","year":"2010","journal-title":"Biochim Biophys Acta"},{"key":"R15-18-20230811","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.bbadis.2010.09.007","article-title":"Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy.","volume":"1812","author":"van Breemen","year":"2011","journal-title":"Biochim Biophys Acta"},{"key":"R16-18-20230811","first-page":"157","article-title":"Fabry\u2019s disease: Enzymatic diagnosis of hemizygotes and heterozygotes. 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