Compromiso renal en mujeres con enfermedad de Fabry en Argentina. Estudio multicéntrico

Abstract

Introduction

Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the alpha galactosidase A (α-galA) enzyme. Organ involvement in men is well known, but in women it is controversial, partly due to random X-chromosome inactivation (Lyon hypothesis). The aim of this study was to describe renal involvement in a population of 35 women at the time of FD diagnosis.

Method

Thirty-five females were evaluated in three reference centres in Argentina. The activity of the α-galA enzyme was determined on filter paper by a fluorometric method, and the mutational study by MLPA and sequencing. Glomerular filtration rate was calculated usinjg the CKD-EPI formula in adult patients and Schwartz formula in paediatric patients. Albuminuria and proteinuria were observed in at least two different urine samples in all cases, as well as the glomerular filtration rates categories according to KDIGO 2012 guidelines.

Results

Mean age of the complete group (n = 35) was 26.6 ± 16.9 years, of whom 22 were adult women (over 18) and 13 were paediatric patients. Enzymatic activity of α-galA was performed in 29/35 patients, which was normal in 24/29 (82.8%). Seven different mutations of the GLA gene were found. The results showed glomerular hyperfiltration (42.9%), urinary protein loss (45.7%), and decreased glomerular filtration rate (31.4%).

Conclusions

Renal involvement in females with FD may be as severe as in men. The analysis of this group of patients showed a significant proportion of females with early kidney damage demonstrated by renal hyperfiltration, albuminuria, proteinuria and glomerular filtration rate decreased, at the time of diagnosis of FD.