La biopsie rénale dans la maladie de Fabry : étude multicentrique française

This study has been initiated to test the scoring form developed to evaluate renal lesions in Fabry disease. This has been established by 10 international experts. Thus, we have collected data on 34 Fabry patients from 19 French centers ; only 28 renal biopsies were adequate for study. Males (23) and females (five) were of similar age (mean 50 years old). Specific glycolipid storage changes were found in all cases. Fibrous changes, involving glomeruli (in about 25% of the cases), interstitium (35% of the cases) and vascular (50 to 60%), were frequently detected. Renal function was significantly and negatively correlated with this fibrous changes, even though three patients with stages 1 and 2 chronic kidney disease had chronic interstitial fibrosis extending over more than 30% of the renal parenchyma. The extend of fibrous changes was not tightly correlated with age of the patients. The results of this study suggest that renal biopsy is of value before initiating enzyme replacement therapy, in patients older than 30 to 40 years.