#4043 FABRY DISEASE: A RARE ENTITY IN THE NEPHROLOGY SETTING

Abstract

Abstract Background and Aims Fabry disease is a rare genetic disorder that affects multiple organs, including the kidneys. It is characterized by the accumulation of globotriaosylceramide (Gb3) in various tissues and organs, leading to progressive interstitial fibrosis and renal dysfunction. We aim to determine the renal manifestations of Fabry disease in particular the histological aspects. Method This study analyzed 9 patients with Fabry disease and renal involvement in a retrospective, single-center analysis. Clinical and biological data, as well as histologic findings, were collected based on patient's observations. Results Data was collected from 9 patients, including 7 males and 2 females, with an average age at diagnosis of 25.2 years (ranging from 17 to 32 years). All patients showed depleted activity of alpha 1 glycosidase, confirming the diagnosis. Acrosyndrome and vascular cutaneous lesions (angiokeratomas) were the dominant signs at admission with respectively (n=7; n=4), with only 3 patients being identified through familial screening without symptoms. Uncontrolled Hypertension was noted in 2 patients. Renal manifestations included renal hyperfiltration in 2 cases, isolated proteinuria in 4 patients, and renal failure in 3 others with a mean serum creatinine levels of 240 ± 36 µmol/l. Four patients underwent renal biopsy, which showed characteristic lesions of Fabry disease with sphingolipid accumulation and tubular cell vacuolization. Thickening of the glomerular capillary walls was observed in one patient. Interstitial fibrosis and tubular atrophy were noted in 3 patients. All patients received enzyme replacement therapy. Angiotensin-converting enzyme inhibitors (ACEi) and/or angiotensin II receptors blockers (ARB) were uses in 6 patients. Five patients progressed to terminal stage of renal failure requiring dialysis after an average follow-up period of 13±2.7 years. Four patients died from cardiovascular complications. Conclusion Early recognition and diagnosis of Fabry disease from the onset of glomerular hyperfiltration and albuminuria are crucial for the initiation of appropriate treatment and management, which can help to delay the progression of renal and other organ damage.