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Abstract: TH-PO732

Urinary MicroRNAs in Fabry Disease Patients with Mild Nephropathy

Session Information

Category: Genetic Diseases of the Kidney

  • 1002 Genetic Diseases of the Kidney: Non-Cystic


  • Jaurretche, Sebastian Pedro antonio, Centro de Neurociencias Los Manantiales, Rosario, Argentina
  • Venera, Graciela, Instituto universitario Italiano de Rosario, Rosario, Argentina
  • Antongiovanni, Norberto Ricardo, Clínica de Nefrología de Pergamino, Pergamino, Buenos Aires, Argentina
  • Perretta, Fernando Javier, Fresenius Medical Care, Escobar, Argentina
  • Perez, German, Gammalab, Rosario, Argentina

Analyze the urinary excretion profile of microRNAs (UEPmiR) regulated by TGF-β-SMAD. Fibrotic: miR-21;miR-192;miR-433. Anti Fibrotic: miR-29;miR-200)


microRNAs extraction from urinary cell pellet was achieved. RNAU6 was endogenous control. Relative miR expression levels were calculated with ΔΔCt method. Dependent variable: UEPmiR. Independent variables: age, gender, α-galA activity, genotype, CKD stage and proteinuria.


Healthy subjets: 8p (4m/4f); age: 25.9±15.2ys; eGFR: 120.7±18.7 ml/min/1.73m2. All nonalbuminuric patients. FD population: 24p (7m/17f); age: 23.7±17.3ys; decreased α-galA: 100% males/13.3% females; eGFR: 137.3±37.2 ml/min/1.73m2; microalbuminuria: 16.7% (1/7) males/35.3% (6/17) females. There were no statistically significant differences in age (p=0.741), eGFR (p= 0.239) and ACR (p=0.204) between healthy subjects and FD patients. microRNA expression in FD patients according to age, gender, genotype, α-galA activity, eGFR, and ACR: significant differences were found between sexes and normal or decreased α-galA only in miR-29 (p=0.041;0.041) and miR-200 (p=0.048;0.048), respectively. FD patients with normal α-galA, without clinical criteria to start enzyme replacement therapy (ERT)(A1 group), did not present differences in UEPmiR compared to healthy subjects. FD patients with more severe phenotype and received ERT (A2 group) did not present differences in UEPmiR compared with healthy subjects neither A1 group. FD patients with normal α-galA and without clinical criteria to start ERT (B1 group), presented a UEPmiR indicative of renal fibrosis (decrease of miR-29 and miR-200). FD patients with decreased α-galA and clinical criteria to start ERT had a different UEPmiR than B1 group, finding that miR-29, in B2 group, behaves similar to healthy subjects.


FD males have a profibrotic UEPmiR. UEPmiR was similar between healthy subjects and two groups of FD patients, i) patients with mild FD phenotype and normal α-galA activity and ii) patients with normal α-galA but with a more severe phenotype receiving ERT. In FD patients with low α-galA activity without ERT, a profibrotic UEPmiR was found; compared with FD patients with low α-galA activity and severe phenotype with ERT, an increase of miR-29 was observed. A probable effect of ERT should be evaluated in longitudinal studies.


  • Private Foundation Support