title: Podocyturia is significantly elevated in untreated vs treated Fabry adult patients.
abstract: BACKGROUND
  Proteinuria suggests kidney involvement in Fabry disease. We assessed podocyturia, an early biomarker, in controls and patients with and without enzyme therapy, correlating podocyturia with proteinuria and renal function.
  
  
  METHODS
  Cross-sectional study (n = 67): controls (Group 1, n = 30) vs. Fabry disease (Group 2, n = 37) subdivided into untreated (2A, n = 19) and treated (2B, n = 18). Variables evaluated: age, gender, creatinine, CKD-EPI, proteinuria, podocyte count/10 20× microscopy power fields, podocytes/100 ml urine, podocytes/g creatininuria (results expressed as median and range).
  
  
  RESULTS
  Group 1 vs. 2 did not differ concerning age, gender and CKD-EPI, but differed regarding proteinuria and podocyturia. Group 2A vs. 2B: age: 29 (18-74) vs. 43 (18-65) years (p = ns); gender: males n = 3 (16 %) vs. n = 9 (50 %). Proteinuria was significantly higher in Fabry treated patients, while CKD-EPI and podocyturia were significantly elevated in untreated individuals. Significant correlations: group 2A: age-proteinuria, ρ = 0.62 (p = 0.0044); age-CKD-EPI, ρ = -0.84 (p < 0.0001); podocyturia-podocytes/100 ml urine, ρ = 0.99 (p = 0.0001); podocyturia-podocytes/g creatininuria ρ = 0.86 (p = 0.0003), podocytes/100 ml urine-podocytes/g urinary creatinine, ρ = 0.84 (p = 0.0004); proteinuria-CKD-EPI, ρ = -0.68 (p = 0.0013). Group 2B: podocyturia-podocytes/100 ml urine, ρ = 0.88 (p < 0.0001); podocyturia-podocytes/g creatininuria, ρ = 0.84 (p < 0.0001); podocytes/100 ml urine-podocytes/g creatininuria, ρ = 0.94 (p < 0.0001); CKD-EPI-proteinuria, ρ = -0.66 (p = 0.0028).
  
  
  CONCLUSIONS
  Patients with Fabry disease display heavy podocyturia; those untreated present significantly higher podocyturia, lower proteinuria and better renal function than those who are treated, suggesting that therapy may be started at advanced stages. Podocyturia may antedate proteinuria, and enzyme therapy may protect against podocyte loss.
authors: Nephrology, Hospital Británico de Buenos Aires, Buenos Aires, Argentina. htrimarchi@hotmail.com.|Servicio de Nefrología, Hospital Británico de Buenos Aires, Perdriel 74, 1280, Buenos Aires, Argentina. htrimarchi@hotmail.com.
authors: Hernán
authors: H
authors: Trimarchi
authors: Biochemistry Services, Hospital Británico de Buenos Aires, Buenos Aires, Argentina.
authors: Romina
authors: R
authors: Canzonieri
authors: Biochemistry Services, Hospital Británico de Buenos Aires, Buenos Aires, Argentina.
authors: Amalia
authors: A
authors: Schiel
authors: Neurology Department, Fundación para el Estudio de las Enfermedades Metabólicas FESEN, Buenos Aires, Argentina.
authors: Juan
authors: J
authors: Politei
authors: Biochemistry Services, Hospital Británico de Buenos Aires, Buenos Aires, Argentina.
authors: Aníbal
authors: A
authors: Stern
authors: Nephrology, Hospital Británico de Buenos Aires, Buenos Aires, Argentina.
authors: José
authors: J
authors: Andrews
authors: Nephrology, Hospital Británico de Buenos Aires, Buenos Aires, Argentina.
authors: Matías
authors: M
authors: Paulero
authors: Nephrology, Hospital Británico de Buenos Aires, Buenos Aires, Argentina.
authors: Tatiana
authors: T
authors: Rengel
authors: IFIBIO Houssay, UBA CONICET Facultad de Medicina, Universidad de Buenos Aires, Buenos Aires, Argentina.
authors: Alicia
authors: A
authors: Aráoz
authors: Nephrology, Hospital Británico de Buenos Aires, Buenos Aires, Argentina.
authors: Mariano
authors: M
authors: Forrester
authors: Nephrology, Hospital Británico de Buenos Aires, Buenos Aires, Argentina.
authors: Fernando
authors: F
authors: Lombi
authors: Nephrology, Hospital Británico de Buenos Aires, Buenos Aires, Argentina.
authors: Vanesa
authors: V
authors: Pomeranz
authors: Nephrology, Hospital Británico de Buenos Aires, Buenos Aires, Argentina.
authors: Romina
authors: R
authors: Iriarte
authors: Internal Medicine, Hospital Británico de Buenos Aires, Buenos Aires, Argentina.
authors: Pablo
authors: P
authors: Young
authors: Biochemistry Services, Hospital Británico de Buenos Aires, Buenos Aires, Argentina.
authors: Alexis
authors: A
authors: Muryan
authors: IFIBIO Houssay, UBA CONICET Facultad de Medicina, Universidad de Buenos Aires, Buenos Aires, Argentina.
authors: Elsa
authors: E
authors: Zotta
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D015415:Biomarkers / Q000652:urine; D016022:Case-Control Studies; D003404:Creatinine / Q000652:urine; D003430:Cross-Sectional Studies; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000150:complications / Q000188:drug therapy* / Q000473:pathology; D005260:Female; D006801:Humans; D007527:Isoenzymes / Q000627:therapeutic use*; D008297:Male; D008875:Middle Aged; D050199:Podocytes / Q000187:drug effects* / Q000473:pathology; D011507:Proteinuria / Q000209:etiology / Q000473:pathology / Q000517:prevention & control; D051436:Renal Insufficiency, Chronic / Q000209:etiology / Q000473:pathology / Q000517:prevention & control* / Q000652:urine; D012307:Risk Factors; D013997:Time Factors; D016896:Treatment Outcome; D016482:Urinalysis; D014556:Urine / Q000166:cytology*; D055815:Young Adult; D000519:alpha-Galactosidase / Q000627:therapeutic use*
chemical_list: D015415:Biomarkers; D007527:Isoenzymes; D003404:Creatinine; D000519:alpha-Galactosidase; C459420:agalsidase beta
keywords: Fabry disease; Podocyte; Podocyturia; proteinuria; Α-galactosidase