title: Podocyturia in Fabry disease.
abstract: BACKGROUND
  Fabry disease is a lysosomal storage disorder due to abnormalities in the GLA gene (Xq22). Such changes result in the reduction/absence of activity of the lysosome enzyme α-GAL, whose function is to metabolize globotriaosylceramide (Gb3). Renal disease is a major clinical outcome of the accumulation of Gb3. Podocyte injury is thought to be a major contributor to the progressive loss of the renal function and may be found altered even before the onset of microalbuminuria.
  
  
  OBJECTIVE
  The aim of this study was to quantify the urinary excretion of podocytes in Fabry disease patients (V269M, n = 14) and healthy controls (n = 40), and to correlate podocyturia with the variables gender, age, time of therapy and albumin: creatinine ratio (ACR).
  
  
  METHODS
  Urinary podocytes were stained using immunofluorescence to podocalyxin and DAPi. The number of podocalyxin-positive cells was quantified and the average number was taken (normal range 0-0.6 podocytes/mL).
  
  
  RESULTS
  The average number of podocytes in the urine of Fabry disease patients was significantly higher than in healthy controls (p < 0.0001). We observed a positive correlation between podocyturia and ACR (p = 0.004; (r2 = 0.6417). We found no correlation between podocyturia and gender, age or duration of therapy.
  
  
  CONCLUSIONS
  Podocyturia is an important parameter in the assessment of renal disease in general, and it may serve as an additional early tool for monitoring Fabry disease nephropathy even before changes in ACR are seen. This may prove to be a useful tool to assess disease progression in patients expected to have a more aggressive phenotype.
authors.affiliation: Universidade Federal do Piauí, Brazil.
authors.forename: Ester Miranda
authors.initials: EM
authors.lastname: Pereira
authors.affiliation: Universidade Federal do Piauí, Brazil.
authors.forename: Adalberto Socorro da
authors.initials: AS
authors.lastname: Silva
authors.affiliation: Universidade Federal do Piauí, Brazil.
authors.forename: Anatália
authors.initials: A
authors.lastname: Labilloy
authors.affiliation: Universidade Federal do Piauí, Brazil.
authors.forename: José Tiburcio do
authors.initials: JT
authors.lastname: Monte Neto
authors.affiliation: Universidade Federal do Piauí, Brazil.
authors.forename: Semiramis Jamil Hadad do
authors.initials: SJ
authors.lastname: Monte
mesh_terms: D000328:Adult; D000368:Aged; D000419:Albuminuria; D016022:Case-Control Studies; D002648:Child; D003404:Creatinine / Q000652:urine; D018450:Disease Progression; D000795:Fabry Disease / Q000503:physiopathology* / Q000652:urine; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D050199:Podocytes / Q000473:pathology*; D016482:Urinalysis; D055815:Young Adult
chemical_list: D003404:Creatinine