title: Fabry disease in patients with end-stage renal failure: the potential benefits of screening.
abstract: OBJECTIVE
  Alpha-galactosidase A (alpha-GLA) deficiency (Fabry disease) is an X-linked lysosomal storage disorder. The associated visceral complications are progressive and multiorgan; renal involvement is common, usually leading to end-stage renal failure (ESRF). The reported benefits of specific enzyme replacement therapy (ERT) indicate the importance of screening for Fabry disease in high-risk populations, as this approach should make it possible to identify other family members with little or no clinical features of the disease, and for them to be considered for early preventive treatment.
  
  
  METHODS
  We screened for Fabry disease in 106 patients on hemodialysis in our hospital-based hemodialysis unit. We did this by measuring alpha-GLA enzyme activity in blood leukocytes taken from each patient and we then carried out gene analysis when indicated.
  
  
  RESULTS
  We were able to discover 1 patient with low residual alpha-GLA activity (a prevalence of 0.94%). Alpha-GLA gene analysis identified a point mutation within the coding region producing a N215S amino acid substitution in the protein. Among the relatives of this index case, molecular testing found 7 family members with the same N215S alpha-GLA mutation. Of these, 3 had reduced alpha-GLA activity and clinical features of Fabry disease, and for which ERT was subsequently given.
  
  
  CONCLUSIONS
  Screening for Fabry disease is simple and although the yield is small, it is potentially significant and of possible benefit to the relatives of affected cases in this 'at-risk' ESRF population, many of who do not have a clear renal diagnosis.
authors.affiliation: Department of Biochemistry, Centre Hospitalier Universitaire de Nice, Nice, France. bekri.s@chu-nice.fr
authors.forename: Soumeya
authors.initials: S
authors.lastname: Bekri
authors.forename: Adrian
authors.initials: A
authors.lastname: Enica
authors.forename: Thomas
authors.initials: T
authors.lastname: Ghafari
authors.forename: Gisèle
authors.initials: G
authors.lastname: Plaza
authors.forename: Isabelle
authors.initials: I
authors.lastname: Champenois
authors.forename: Gabriel
authors.initials: G
authors.lastname: Choukroun
authors.forename: Robert
authors.initials: R
authors.lastname: Unwin
authors.forename: Philippe
authors.initials: P
authors.lastname: Jaeger
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000201:enzymology*; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D000519:alpha-Galactosidase / Q000097:blood / Q000235:genetics*
chemical_list: D000519:alpha-Galactosidase