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Related Experiment Video

Updated: Feb 9, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

Urinary VEGF-A165b mRNA expression in Fabry disease: Pilot study.

Sebastián Jaurretche¹, Germán Perez², Norberto Antongiovanni³

¹Biophysics and Human Physiology, School of Medicine, Instituto Universitario Italiano de Rosario, (Z.C: 2000) Rosario, Santa Fe, Argentina; Uro-Nephrology and Genetics, Sanatorio Parque, (Z.C: 2000) Rosario, Santa Fe, Argentina.

|February 7, 2026

Summary

Vascular endothelial growth factor (VEGF)-165b mRNA in urine may indicate kidney injury in Fabry disease (FD). Higher expression correlated with longer enzyme replacement therapy (ERT) duration, suggesting potential treatment benefits in FD nephropathy.

Keywords:

ARNm Biomarcadores Biomarkers Enfermedad de Fabry Fabry disease Nefropatía Nephropathy Urinary VEGF-A165b VEGF-A165b urinario mRNA

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Area of Science:

Nephrology
Genetics
Molecular Biology

Background:

Vascular endothelial growth factor (VEGF) plays a role in Fabry disease (FD) kidney damage.
VEGF-A is produced by podocytes, and the VEGF-A165b isoform shows protective effects in kidney disease.
Previous studies indicate higher VEGF levels in young FD patients and overexpression in animal models.

Purpose of the Study:

To investigate urinary VEGF-165b mRNA expression in Fabry disease patients.
To explore correlations between VEGF-165b mRNA and clinical parameters in FD.
To assess the potential of VEGF-165b as a biomarker for FD nephropathy.

Main Methods:

Cross-sectional study design.
Urinary mRNA isolation and quantification using RT-qPCR.
Inclusion of 24 FD patients and 24 healthy controls, stratified by age.

Main Results:

Urinary VEGF-165b mRNA expression was higher in FD patients than controls, though not statistically significant (p=0.369).
No significant correlations were found with age, gender, genotype, phenotype, uACR, eGFR, or ERT status.
A significant positive correlation was observed between urinary VEGF-165b mRNA and duration of enzyme replacement therapy (ERT) (p=0.05).

Conclusions:

Elevated urinary VEGF-165b mRNA suggests a response to renal injury in Fabry disease nephropathy.
The duration of ERT is the only factor correlated with higher VEGF-165b mRNA levels.
Longer ERT duration may indicate reduced FD-related kidney damage, but further research with larger sample sizes is needed.