title: Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients.
abstract: BACKGROUND
  Although previous studies reported that the prevalence of Fabry's disease was 0.16 - 1.2% in hemodialysis (HD) patients based on measurement of a-galactosidase A (alpha-Gal A) activity, few reports detected female patients by the screening for alpha-Gal A. Here we determined the prevalence of Fabry's disease not only in male but also in female HD patients by measuring alpha-Gal A.
  
  
  METHODS
  Plasma alpha-Gal A was measured in 696 consecutive males (n = 401) and females (n = 295) on HD. Patients with low plasma alpha-Gal A were examined for leukocyte alpha-Gal A, and patients with low leukocyte alpha-Gal A underwent alpha-Gal A gene sequence analysis for possible mutations, and family survey.
  
  
  RESULTS
  Among 15 patients with low plasma alpha-Gal A activity, 4 male patients with low leukocyte alpha-Gal A and 1 female patient revealing low plasma alpha-Gal A were detected in 696 HD patients (0.7% of total patients). 3 of these 5 patients were already diagnosed to have the classical type of Fabry's disease. The other 2 patients were newly diagnosed as Fabry's disease, and did not have typical manifestations of Fabry's disease other than renal failure and left ventricular hypertrophy. DNA analysis of these 2 newly diagnosed patients revealed that each had an alpha-Gal missense mutation, previously identified (E66Q, M2961).
  
  
  CONCLUSIONS
  Fabry's disease should be considered in the etiology of unexplained end-stage renal disease. Not only affected males but also affected females undergoing HD patients can be readily diagnosed by alpha-Gal A activities and gene analysis. These patients and their family members may benefit from enzyme replacement therapy for Fabry's disease.
authors.affiliation: Department of Nephrology, Akebono Clinic, 5-1-1 Shirafuji, Kumamoto 861-4112, Japan. tanaka@matusita-kai.or.jp
authors.forename: M
authors.initials: M
authors.lastname: Tanaka
authors.forename: T
authors.initials: T
authors.lastname: Ohashi
authors.forename: M
authors.initials: M
authors.lastname: Kobayashi
authors.forename: Y
authors.initials: Y
authors.lastname: Eto
authors.forename: N
authors.initials: N
authors.lastname: Miyamura
authors.forename: K
authors.initials: K
authors.lastname: Nishida
authors.forename: E
authors.initials: E
authors.lastname: Araki
authors.forename: K
authors.initials: K
authors.lastname: Itoh
authors.forename: K
authors.initials: K
authors.lastname: Matsushita
authors.forename: M
authors.initials: M
authors.lastname: Hara
authors.forename: K
authors.initials: K
authors.lastname: Kuwahara
authors.forename: T
authors.initials: T
authors.lastname: Nakano
authors.forename: N
authors.initials: N
authors.lastname: Yasumoto
authors.forename: H
authors.initials: H
authors.lastname: Nonoguchi
authors.forename: K
authors.initials: K
authors.lastname: Tomita
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015415:Biomarkers / Q000097:blood; D004247:DNA / Q000032:analysis; D018450:Disease Progression; D005091:Exons; D000795:Fabry Disease / Q000201:enzymology* / Q000235:genetics / Q000628:therapy; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D006435:Renal Dialysis; D012720:Severity of Illness Index; D000519:alpha-Galactosidase / Q000097:blood* / Q000235:genetics
chemical_list: D015415:Biomarkers; D004247:DNA; D000519:alpha-Galactosidase