title: Vesicoureteral reflux and the extracellular matrix connection.
abstract: 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.
authors.affiliation: Department of Human Genetics, McGill University, Montreal, QC, Canada.
authors.forename: Fatima
authors.initials: F
authors.lastname: Tokhmafshan
authors.affiliation: Department of Pediatrics, University of Iowa, Carver College of Medicine, Iowa City, IA, 52242, USA.
authors.forename: Patrick D
authors.initials: PD
authors.lastname: Brophy
authors.affiliation: Department of Pediatrics, Division of Nephrology, Duke University Medical Center, Durham, NC, 27710, USA.|Center for Human Genetics, Duke University Medical Center, Durham, NC, 27710, USA.
authors.forename: Rasheed A
authors.initials: RA
authors.lastname: Gbadegesin
authors.affiliation: Department of Human Genetics, McGill University, Montreal, QC, Canada. indra.gupta@muhc.mcgill.ca.|Department of Pediatrics, McGill University, Montreal, QC, Canada. indra.gupta@muhc.mcgill.ca.
authors.forename: Indra R
authors.initials: IR
authors.lastname: Gupta
mesh_terms: D002648:Child; D005109:Extracellular Matrix / Q000473:pathology*; D006801:Humans; D014718:Vesico-Ureteral Reflux / Q000150:complications / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology
keywords: Collagen; Cutis laxa; Ehlers–Danlos syndrome; Elastin; Joint hypermobility; Marfan syndrome; Tenascin-XB; Ureterovesical junction; Vesicoureteral reflux; Williams syndrome