Variables associated with glomerular hyperfiltration in fabry disease patients

Abstract

Background: Fabry disease is a genetic disorder caused by the deficiency of the lysosomal α-galactosidase A enzyme. This failure generates the storage of globotriaosylceramide in different cells with a progressive multi-organ involvement. Objectives: To report the prevalence of glomerular hyperfiltration in Fabry disease patients and the association with clinical variables. Methods: Adult patients (≥ 18 years) at the moment of FD diagnosis were evaluated. The variables studied were: central and peripheral nervous system compromise, presence of arterial hypertension, cardiac arrhythmia, left ventricular hypertrophy, albumin-uria/proteinuria, cornea verticillata, gastrointestinal involvement, treatment with inhibitors of the renin-angiotensin-aldosterone system, deafness, and presence of angiokeratomas. Results: Forty-eight adults with Fabry disease (35.9 ± 11.7 years), 28 women (58.3%), and 20 men (41.7%) were analyzed. Nine (18.8%) patients with glomerular hyperfiltration, including six females and three males (mean age: 28.8 years), were detected. A significant association between and central nervous system (P = 0.021) and peripheral nervous system (P = 0.001) compromise, cardiac arrhyth-mia (P = 0.001), cornea verticillata (P = 0.009), and gastrointestinal involvement (P = 0.009) was observed. However, no association was found between glomerular hyperfiltration and proteinuria or treatment with inhibitors of the renin-angiotensin-aldosterone system. Conclusions: This research showed a higher prevalence of glomerular hyperfiltration in the younger group and a significant association between glomerular hyperfiltration and some typical manifestations of classic Fabry patients. Although more studies are needed, it is concluded that other mechanisms than glomerular hyperfiltration, like injury by glycosphingolipids deposit into the filtration barrier, might influence the protein loss in Fabry nephropathy.