Abstract
Abstract Background and Aims Fabry disease is a rare, systemic, genetic, and metabolic lysosomal storage disease. Phenotypic heterogeneity prevents accurate predictions for the disease progression. We aimed to evaluate the association of multiple plasma biomarkers with disease severity in Fabry disease. Method In a cross-sectional study, we examined 76 Fabry, 46 CKD patients and 41 healthy controls. We studied KIM-1, MCP-1, YKL-40, TNFR-1, TNFR-2, cystatin-C with enzyme linked immunoassay. Fabry patients on renal replacement therapy were excluded from the analysis. Results Demographic, clinical and laboratory data of the study participants are shown in Table 1. eGFR was calculated with creatinine and creatinine-cystatin C using CKD-EPI formula. While there was no difference between Fabry patients and healthy controls regarding eGFR(cr); eGFR(cr-cys) was significantly lower in Fabry patients. Biomarker levels in three groups were shown in Table 2. After performing age, sex and BMI adjusted analysis, MCP-1 was significantly lower in Fabry patients compared to CKD group (p:0.01). MCP-1 was significantly higher in Fabry patients with cardiac involvement than in those without cardiac involvement (p:0.039). KIM-1 was significantly higher in Fabry patients comparing to healthy controls (p:0.01). There was no significant difference regarding biomarker levels between Fabry patients with and without kidney involvement. YKL-40 was significantly lower in Fabry patients without kidney involvement compared to both control groups (p:0.025), probably reflecting the effect of ERT. Conclusion MCP-1, KIM-1, YKL-40 and Cystatin C seems to be useful markers for the management of Fabry patients. Each biomarker is associated with different aspect of the disease. MCP-1 might be a useful regarding Fabry disease activity especially in patients with cardiac involvement. KIM-1 might be an early sign in Fabry disease. Cystatin-C should be used for better management of patients since it shows renal involvement better than creatinine.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
