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Vesicoureteral reflux 3(VUR3)

MedGen UID:
462277
•Concept ID:
C3150927
•
Disease or Syndrome
Synonym: VUR3
 
Gene (location): SOX17 (8q11.23)
 
Monarch Initiative: MONDO:0013356
OMIM®: 613674

Definition

Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene. [from MONDO]

Clinical features

From HPO
Hydronephrosis
MedGen UID:
42531
•Concept ID:
C0020295
•
Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
See: Feature record | Search on this feature
Recurrent urinary tract infections
MedGen UID:
120466
•Concept ID:
C0262655
•
Disease or Syndrome
Repeated infections of the urinary tract.
See: Feature record | Search on this feature
Ureteropelvic junction obstruction
MedGen UID:
105482
•Concept ID:
C0521619
•
Anatomical Abnormality
Blockage of urine flow from the renal pelvis to the proximal ureter.
See: Feature record | Search on this feature
Hydroureter
MedGen UID:
101073
•Concept ID:
C0521620
•
Anatomical Abnormality
The distention of the ureter with urine.
See: Feature record | Search on this feature
Grade III vesicoureteral reflux
MedGen UID:
475971
•Concept ID:
C3274338
•
Disease or Syndrome
Vesicoureteral reflux with dilatation of the collecting system.
See: Feature record | Search on this feature
Grade IV vesicoureteral reflux
MedGen UID:
475972
•Concept ID:
C3274339
•
Disease or Syndrome
Vesicoureteral reflux with more-extensive dilation with blunting of the calyces and tortuosity of the ureter.
See: Feature record | Search on this feature
Ureter duplex
MedGen UID:
1637097
•Concept ID:
C4551489
•
Congenital Abnormality
A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder.
See: Feature record | Search on this feature
Chronic constipation
MedGen UID:
98325
•Concept ID:
C0401149
•
Sign or Symptom
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
See: Feature record | Search on this feature
Polyhydramnios
MedGen UID:
6936
•Concept ID:
C0020224
•
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Urinary incontinence and urinary tract infection and their resolution with treatment of chronic constipation of childhood.
Loening-Baucke V
Pediatrics 1997 Aug;100(2 Pt 1):228-32. doi: 10.1542/peds.100.2.228. PMID: 9240804

Recent clinical studies

Etiology

Pathogenesis and prognosis of intrarenal reflux.
Gkalonaki I, Schoina E, Anastasakis M, Patoulias I
Folia Med Cracov 2023 Jul 30;63(2):57-64. doi: 10.24425/fmc.2023.145913. PMID: 37903379
Vesicoureteral Reflux: Current Care Trends and Future Possibilities.
Bortnick EM, Nelson CP
Urol Clin North Am 2023 Aug;50(3):391-402. Epub 2023 May 16 doi: 10.1016/j.ucl.2023.04.003. PMID: 37385702
A Primer on Congenital Anomalies of the Kidneys and Urinary Tracts (CAKUT).
Murugapoopathy V, Gupta IR
Clin J Am Soc Nephrol 2020 May 7;15(5):723-731. Epub 2020 Mar 18 doi: 10.2215/CJN.12581019. PMID: 32188635Free PMC Article
Contemporary Management of Vesicoureteral Reflux.
Hajiyev P, Burgu B
Eur Urol Focus 2017 Apr;3(2-3):181-188. Epub 2017 Sep 12 doi: 10.1016/j.euf.2017.08.012. PMID: 28918954
Vesicoureteral Reflux in Kidney Transplantation.
Molenaar NM, Minnee RC, Bemelman FJ, Idu MM
Prog Transplant 2017 Jun;27(2):196-199. Epub 2017 Mar 22 doi: 10.1177/1526924817699965. PMID: 28617157

Diagnosis

Evidence-based clinical practice guideline for management of urinary tract infection and primary vesicoureteric reflux.
Hari P, Meena J, Kumar M, Sinha A, Thergaonkar RW, Iyengar A, Khandelwal P, Ekambaram S, Pais P, Sharma J, Kanitkar M, Bagga A; Indian Society of Pediatric Nephrology
Pediatr Nephrol 2024 May;39(5):1639-1668. Epub 2023 Oct 28 doi: 10.1007/s00467-023-06173-9. PMID: 37897526
Vesicoureteral Reflux: Current Care Trends and Future Possibilities.
Bortnick EM, Nelson CP
Urol Clin North Am 2023 Aug;50(3):391-402. Epub 2023 May 16 doi: 10.1016/j.ucl.2023.04.003. PMID: 37385702
A Primer on Congenital Anomalies of the Kidneys and Urinary Tracts (CAKUT).
Murugapoopathy V, Gupta IR
Clin J Am Soc Nephrol 2020 May 7;15(5):723-731. Epub 2020 Mar 18 doi: 10.2215/CJN.12581019. PMID: 32188635Free PMC Article
Contemporary Management of Vesicoureteral Reflux.
Hajiyev P, Burgu B
Eur Urol Focus 2017 Apr;3(2-3):181-188. Epub 2017 Sep 12 doi: 10.1016/j.euf.2017.08.012. PMID: 28918954
Vesicoureteral reflux.
Greenbaum LA, Mesrobian HG
Pediatr Clin North Am 2006 Jun;53(3):413-27, vi. doi: 10.1016/j.pcl.2006.02.010. PMID: 16716788

Therapy

Antibiotic Prophylaxis in Infants with Grade III, IV, or V Vesicoureteral Reflux.
Morello W, Baskin E, Jankauskiene A, Yalcinkaya F, Zurowska A, Puccio G, Serafinelli J, La Manna A, Krzemień G, Pennesi M, La Scola C, Becherucci F, Brugnara M, Yuksel S, Mekahli D, Chimenz R, De Palma D, Zucchetta P, Vajauskas D, Drozdz D, Szczepanska M, Caliskan S, Lombet J, Minoli DG, Guarino S, Gulleroglu K, Ruzgiene D, Szmigielska A, Barbi E, Ozcakar ZB, Kranz A, Pasini A, Materassi M, De Rechter S, Ariceta G, Weber LT, Marzuillo P, Alberici I, Taranta-Janusz K, Caldas Afonso A, Tkaczyk M, Català M, Cabrera Sevilla JE, Mehls O, Schaefer F, Montini G; PREDICT Study Group
N Engl J Med 2023 Sep 14;389(11):987-997. Epub 2023 Sep 12 doi: 10.1056/NEJMoa2300161. PMID: 37702442
Dexamethasone to prevent kidney scarring in acute pyelonephritis: a randomized clinical trial.
Rius-Gordillo N, Ferré N, González JD, Ibars Z, Parada-Ricart E, Fraga MG, Chocron S, Samper M, Vicente C, Fuertes J, Escribano J; DEXCAR Study Group
Pediatr Nephrol 2022 Sep;37(9):2109-2118. Epub 2022 Jan 18 doi: 10.1007/s00467-021-05398-w. PMID: 35041042Free PMC Article
Risk Factors for Recurrent Urinary Tract Infection and Renal Scarring.
Keren R, Shaikh N, Pohl H, Gravens-Mueller L, Ivanova A, Zaoutis L, Patel M, deBerardinis R, Parker A, Bhatnagar S, Haralam MA, Pope M, Kearney D, Sprague B, Barrera R, Viteri B, Egigueron M, Shah N, Hoberman A
Pediatrics 2015 Jul;136(1):e13-21. Epub 2015 Jun 8 doi: 10.1542/peds.2015-0409. PMID: 26055855Free PMC Article
Urinary tract infection: clinical practice guideline for the diagnosis and management of the initial UTI in febrile infants and children 2 to 24 months.
Subcommittee on Urinary Tract Infection, Steering Committee on Quality Improvement and Management, Roberts KB
Pediatrics 2011 Sep;128(3):595-610. Epub 2011 Aug 28 doi: 10.1542/peds.2011-1330. PMID: 21873693
Vesicoureteral reflux.
Greenbaum LA, Mesrobian HG
Pediatr Clin North Am 2006 Jun;53(3):413-27, vi. doi: 10.1016/j.pcl.2006.02.010. PMID: 16716788

Prognosis

Pathogenesis and prognosis of intrarenal reflux.
Gkalonaki I, Schoina E, Anastasakis M, Patoulias I
Folia Med Cracov 2023 Jul 30;63(2):57-64. doi: 10.24425/fmc.2023.145913. PMID: 37903379
Vesicoureteral Reflux: Current Care Trends and Future Possibilities.
Bortnick EM, Nelson CP
Urol Clin North Am 2023 Aug;50(3):391-402. Epub 2023 May 16 doi: 10.1016/j.ucl.2023.04.003. PMID: 37385702
Dexamethasone to prevent kidney scarring in acute pyelonephritis: a randomized clinical trial.
Rius-Gordillo N, Ferré N, González JD, Ibars Z, Parada-Ricart E, Fraga MG, Chocron S, Samper M, Vicente C, Fuertes J, Escribano J; DEXCAR Study Group
Pediatr Nephrol 2022 Sep;37(9):2109-2118. Epub 2022 Jan 18 doi: 10.1007/s00467-021-05398-w. PMID: 35041042Free PMC Article
A Primer on Congenital Anomalies of the Kidneys and Urinary Tracts (CAKUT).
Murugapoopathy V, Gupta IR
Clin J Am Soc Nephrol 2020 May 7;15(5):723-731. Epub 2020 Mar 18 doi: 10.2215/CJN.12581019. PMID: 32188635Free PMC Article
Risk Factors for Recurrent Urinary Tract Infection and Renal Scarring.
Keren R, Shaikh N, Pohl H, Gravens-Mueller L, Ivanova A, Zaoutis L, Patel M, deBerardinis R, Parker A, Bhatnagar S, Haralam MA, Pope M, Kearney D, Sprague B, Barrera R, Viteri B, Egigueron M, Shah N, Hoberman A
Pediatrics 2015 Jul;136(1):e13-21. Epub 2015 Jun 8 doi: 10.1542/peds.2015-0409. PMID: 26055855Free PMC Article

Clinical prediction guides

Antibiotic Prophylaxis in Infants with Grade III, IV, or V Vesicoureteral Reflux.
Morello W, Baskin E, Jankauskiene A, Yalcinkaya F, Zurowska A, Puccio G, Serafinelli J, La Manna A, Krzemień G, Pennesi M, La Scola C, Becherucci F, Brugnara M, Yuksel S, Mekahli D, Chimenz R, De Palma D, Zucchetta P, Vajauskas D, Drozdz D, Szczepanska M, Caliskan S, Lombet J, Minoli DG, Guarino S, Gulleroglu K, Ruzgiene D, Szmigielska A, Barbi E, Ozcakar ZB, Kranz A, Pasini A, Materassi M, De Rechter S, Ariceta G, Weber LT, Marzuillo P, Alberici I, Taranta-Janusz K, Caldas Afonso A, Tkaczyk M, Català M, Cabrera Sevilla JE, Mehls O, Schaefer F, Montini G; PREDICT Study Group
N Engl J Med 2023 Sep 14;389(11):987-997. Epub 2023 Sep 12 doi: 10.1056/NEJMoa2300161. PMID: 37702442
Vesicoureteral Reflux: Current Care Trends and Future Possibilities.
Bortnick EM, Nelson CP
Urol Clin North Am 2023 Aug;50(3):391-402. Epub 2023 May 16 doi: 10.1016/j.ucl.2023.04.003. PMID: 37385702
Dexamethasone to prevent kidney scarring in acute pyelonephritis: a randomized clinical trial.
Rius-Gordillo N, Ferré N, González JD, Ibars Z, Parada-Ricart E, Fraga MG, Chocron S, Samper M, Vicente C, Fuertes J, Escribano J; DEXCAR Study Group
Pediatr Nephrol 2022 Sep;37(9):2109-2118. Epub 2022 Jan 18 doi: 10.1007/s00467-021-05398-w. PMID: 35041042Free PMC Article
Risk Factors for Recurrent Urinary Tract Infection and Renal Scarring.
Keren R, Shaikh N, Pohl H, Gravens-Mueller L, Ivanova A, Zaoutis L, Patel M, deBerardinis R, Parker A, Bhatnagar S, Haralam MA, Pope M, Kearney D, Sprague B, Barrera R, Viteri B, Egigueron M, Shah N, Hoberman A
Pediatrics 2015 Jul;136(1):e13-21. Epub 2015 Jun 8 doi: 10.1542/peds.2015-0409. PMID: 26055855Free PMC Article
The RIVUR study: a review of its findings.
Cara-Fuentes G, Gupta N, Garin EH
Pediatr Nephrol 2015 May;30(5):703-6. Epub 2014 Dec 11 doi: 10.1007/s00467-014-3021-2. PMID: 25503325

Recent systematic reviews

Kidney Ultrasonography After First Febrile Urinary Tract Infection in Children: A Systematic Review and Meta-analysis.
Yang S, Gill PJ, Anwar MR, Nurse K, Mahood Q, Borkhoff CM, Bijelic V, Parkin PC, Mahant S; Canadian Paediatric Inpatient Research Network (PIRN)
JAMA Pediatr 2023 Aug 1;177(8):764-773. doi: 10.1001/jamapediatrics.2023.1387. PMID: 37252727Free PMC Article
Robot-assisted laparoscopic versus open ureteral reimplantation for pediatric vesicoureteral reflux: a systematic review and meta-analysis.
Deng T, Liu B, Luo L, Duan X, Cai C, Zhao Z, Zhu W, Wu W, Zeng G
World J Urol 2018 May;36(5):819-828. Epub 2018 Jan 27 doi: 10.1007/s00345-018-2194-x. PMID: 29374841
To screen or not to screen for vesicoureteral reflux in children with ureteropelvic junction obstruction: a systematic review.
Weitz M, Schmidt M
Eur J Pediatr 2017 Jan;176(1):1-9. Epub 2016 Nov 25 doi: 10.1007/s00431-016-2818-3. PMID: 27888411
Efficacy of antibiotic prophylaxis in children with vesicoureteral reflux: systematic review and meta-analysis.
Wang HH, Gbadegesin RA, Foreman JW, Nagaraj SK, Wigfall DR, Wiener JS, Routh JC
J Urol 2015 Mar;193(3):963-9. Epub 2014 Sep 6 doi: 10.1016/j.juro.2014.08.112. PMID: 25196653Free PMC Article
Urinary tract infection in children.
Larcombe J
BMJ Clin Evid 2010 Feb 9;2010 PMID: 21733199Free PMC Article

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