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Abstract: SA-PO628

Renal Biopsy Findings Precede Clinical Evidence of Renal Disease in Female Patients with Fabry Disease

Session Information

Category: Genetic Diseases of the Kidney

  • 803 Genetic Epidemiology and Other Genetic Studies of Common Kidney Diseases


  • Moura, Luiz A., Hospital do Rim e Hipertensao, Sao Paulo, Brazil
  • Canziani, Maria Eugenia F., Federal University of Sao Paulo, Sao Paulo, Brazil
  • Abensur, Hugo, Universidade de Sao Paulo, Sao Paulo, Brazil
  • Veloso, Valeria, universidade Federal de Goias, Goiania, Brazil
  • Lima, Simone Martins, Sanofi Genzyme , São Paulo, São Paulo, Brazil
  • Reis, Marlene A., Federal University of Triangulo Mineiro - UFTM, Uberaba, Brazil
  • Aldeman, Nayze Lucena sangreman, FEDERAL UNIVERSITY OF PIAUI, TERESINA, Brazil
  • Warnock, David G., UAB, Birmingham, Alabama, United States
  • Fogo, Agnes B., Vanderbilt University Medical Center, Nashville, Tennessee, United States

Fabry nephropathy results from mutations in the GLA gene causing a deficiency in alpha-galactosidase and the accumulation of glycosphingolipids in kidney cells, proteinuria and progressive loss of kidney function. The aim of this study was to describe renal biopsy findings in a Brazilian cohort of Fabry patients according to the ISGFN Fabry renal pathology scoring system and correlate these findings to clinical and laboratory data.


Kidney biopsies, indicated based upon a family screening program, were analyzed by light microscopy from paraffin embedded sections stained by PAS and semi-thin sections from plastic embedded sections stained by toluidine blue. Clinical data were retrieved from patient medical records.


A total of 27 (14 male and 13 female) kidney biopsies from Fabry patients were analyzed. None of the patients had previously initiated enzyme replacement therapy.Males and females were the same age (34.7±10.8 vs. 36.8±18.4 yo) and predominantly in CKD stage 1 (59%) and 2 (22%). Proteinuria was significantly more pronounced in males compared to females (p<0.05). Renal biopsies in female patients showed histological alterations, particularly podocyte inclusions, even with proteinuria less than 200mg/24h and GFR greater than 60 ml/min/1.73 m2. There was no difference males vs females in vacuolization or inclusions in podocytes. More women had biopsies without glomerular sclerosis (p<0.05) while men had 5 times more scarring than age-matched women. Males had significantly more interstitial fibrosis than females (26.1±30.9% vs. 5.0±2.89; p=0.007). Interstitial fibrosis correlated with eGFR (p<0.001) in males but not in females (p=0.501). Interstitial inflammation was present in 93% of biopsies from males vs. 23% of females (p<0.001).


Males with Fabry disease, even in early stage of CKD, showed substantially more interstitial fibrosis and inflammation than females. Females had better preserved renal function than males, but still histological lesions, mainly podocyte inclusions, even though renal function was nearly normal. Renal histologic findings may be important factors to be considered when making therapeutic decisions for patients with Fabry disease.


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