Primary vesicoureteral reflux (VUR) is a common pediatric condition due to a developmental defect in the ureterovesical junction. The prevalence of VUR among individuals with connective tissue disorders, as well as the importance of the ureter and bladder wall musculature for the anti-reflux mechanism, suggest that defects in the extracellular matrix (ECM) within the ureterovesical junction may result in VUR. This review will discuss the function of the smooth muscle and its supporting ECM microenvironment with respect to VUR, and explore the association of VUR with mutations in ECM-related genes.
Keywords: Collagen; Cutis laxa; Ehlers–Danlos syndrome; Elastin; Joint hypermobility; Marfan syndrome; Tenascin-XB; Ureterovesical junction; Vesicoureteral reflux; Williams syndrome.