| Genetics and pathophysiology of syndromic versus
nonsyndromic primary vesicoureteral reflux: an update |
Špela Stangler Herodež1 
, Danijela Krgović1
, Mirjam Močnik2
, Nataša Marčun Varda2,3
, Ivana Trutin4,5
, Tamara Nikuševa Marti&6
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1Laboratory of Medical Genetics, University Medical Centre Maribor, Maribor, Slovenia
2Department of Pediatrics, University Medical Centre Maribor, Maribor, Slovenia
3Faculty of Medicine, University of Maribor, Maribor, Slovenia
4Department of Pediatrics, Sestre Milosrdnice University Hospital Center, Zagreb, Croatia
5School of Medicine, University of Rijeka, Rijeka, Croatia
6Department of Medical Biology and Genetics, School of Medicine, University of Zagreb, Zagreb, Croatia |
Correspondence:
Mirjam Močnik, Email: mirjammocnik91@gmail.com
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Received: 23 June 2026 • Revised: 29 August 2026 • Accepted: 10 September 2026 |
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| Abstract |
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Vesicoureteral reflux (VUR), among the most common
urinary tract anomalies in children, can lead to long-term
sequelae. The hereditary nature of VUR has long been
known. Syndromic VUR is one of numerous congenital
syndromes associated with specific disrupted genes and
related anomalies extending beyond kidney manifestations.
However, its occurrence is rare, and isolated nonsyndromic
primary VUR is much more common. Recent
improvements in genetic testing have enabled the identification
of possible causative genes in the development
of VUR. However, mild nondilating VUR can be a normal
developmental variant that resolves spontaneously in
most cases as a child grows and his/her bladder wall
develops. In isolated cases of nonsyndromic VUR, genetic
variants are usually subtle and difficult to identify as
pathogenic, making this field of research vague and uncertain.
This review aims to provide a comprehensive
update on the genetics of VUR, including genes associated
with syndromic and isolated VUR development that have
emerged in recent studies, and encourage further research
by associating specific genetic variations with VUR
development, kidney parenchymal damage, and longterm
sequelae. |
| Key Words:
Vesico-ureteral reflux, Genetic testing,
Genetics, Child |
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