title: Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: identification of new case with novel mutation.
abstract: BACKGROUND
  Chronic renal failure (CRF) is a serious complication of Fabry disease (FD). The aims of the present study were to determine the prevalence of unrecognized FD in Turkish hemodialysis population and to investigate the molecular background.
  
  
  METHODS
  Primarily, α-galactosidase A (α-Gal A) activity was investigated on DBS in 1136 patients of both sexes who underwent dialysis for CRF in Turkey. The disease was confirmed by analyzing enzyme activity in leukocyte and GLA gene sequencing in all patients in whom α-Gal A level was 40% of normal or less.
  
  
  RESULTS
  Mean age of the patients (44.5% female, 52.5% male) was 56.46±15.85 years. Enzyme activity was found low with DBS method in 12 patients (four males, eight females). Two men, but no women, were diagnosed with FD by enzymatic and molecular analysis. In consequence of genetic analysis of a case, a new mutation [hemizygote c.638C>T (p.P214S) missense mutation in exon 5] was identified, which was not described in literature. Family screening of cases identified six additional cases.
  
  
  CONCLUSIONS
  As a result of this initial screening study performed on hemodialysis patients for the first time with DBS method in Turkey, the prevalence of FD was detected as 0.17%. Although the prevalence seems to be low, screening studies are of great importance for detecting hidden cases as well as for identifying other effected family members.
authors.affiliation: Gazi University School of Medicine, Division of Pediatric Nutrition and Metabolism, Ankara, Turkey. iokur52@hotmail.com
authors.forename: Ilyas
authors.initials: I
authors.lastname: Okur
authors.forename: Fatih
authors.initials: F
authors.lastname: Ezgu
authors.forename: Gursel
authors.initials: G
authors.lastname: Biberoglu
authors.forename: Leyla
authors.initials: L
authors.lastname: Tumer
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Erten
authors.forename: Muzeyyen
authors.initials: M
authors.lastname: Isitman
authors.forename: Fatma Tuba
authors.initials: FT
authors.lastname: Eminoglu
authors.forename: Alev
authors.initials: A
authors.lastname: Hasanoglu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D000795:Fabry Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D005820:Genetic Testing; D057898:Hemizygote; D006801:Humans; D007676:Kidney Failure, Chronic / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D015995:Prevalence; D006435:Renal Dialysis; D014421:Turkey / Q000453:epidemiology; D055815:Young Adult; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: C576330:GLA protein, human; D000519:alpha-Galactosidase
keywords: CKD; CRF; Chronic renal failure; DBS; DNA; DP; Dialysis; EDTA; FD; Fabry disease; GFR; Gb(3); HD; HGVS; Human Genome Variation Society; LVH; MI; Novel mutation; PCR; PD; RF; Screening; alpha-galactosidase A; chronic kidney disease; chronic renal failure; deoxyribonucleic acid; dialysis patients; dried blood samples; ethylenediaminetetraacetic acid; globotriaosylceramide; glomerular filtration rate; hemodialysis; left ventricular hypertrophy; myocardial infarction; peritoneal dialysis; polymerase chain reaction; renal failure; α-Gal A