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Assessing Urinary Tract Junction Obstruction Defects by Methylene Blue Dye Injection
Published on: October 12, 2017
Gene discovery and vesicoureteric reflux.
Inga J Murawski1, Indra R Gupta
1Department of Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada.
Pediatric Nephrology (Berlin, Germany)
|February 7, 2008
Summary
Vesicoureteric reflux (VUR) is a congenital defect where urine flows backward to the kidneys. Identifying associated genes may clarify the link between VUR and its serious complications.
Area of Science:
- Urology
- Genetics
- Pediatric Nephrology
Background:
- Vesicoureteric reflux (VUR) is a congenital urinary tract defect characterized by retrograde urine flow from the bladder to the kidneys.
- It results from an abnormal ureterovesical junction and is linked to recurrent urinary tract infections, renal malformations, and hypertension.
Purpose of the Study:
- To investigate the genetic underpinnings of VUR.
- To explore the relationship between VUR and its associated clinical complications through genetic discovery.
Main Methods:
- Comparative genetic analysis between VUR and control groups.
- Identification of gene mutations in mouse models of VUR.
- Screening of identified genes in human VUR cohorts.
Main Results:
- Mutations in specific genes involved in kidney and urinary tract development were found to cause VUR in mice.
- Some of these causative genes were also identified in human VUR patients.
Conclusions:
- Genetic factors play a significant role in the etiology of VUR.
- Discovering VUR-associated genes provides a foundation for understanding the mechanisms linking VUR to its complications, such as reflux nephropathy.
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