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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.
Recurrent urinary tract infections
MedGen UID:
120466
Concept ID:
C0262655
Disease or Syndrome
Repeated infections of the urinary tract.
Ureteropelvic junction obstruction
MedGen UID:
105482
Concept ID:
C0521619
Anatomical Abnormality
Blockage of urine flow from the renal pelvis to the proximal ureter.
Hydroureter
MedGen UID:
101073
Concept ID:
C0521620
Anatomical Abnormality
The distention of the ureter with urine.
Grade III vesicoureteral reflux
MedGen UID:
475971
Concept ID:
C3274338
Disease or Syndrome
Vesicoureteral reflux with dilatation of the collecting system.
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.
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.
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.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.

Professional guidelines

PubMed

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

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
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
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
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
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

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
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
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
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
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

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
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
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
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
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

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
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
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
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
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

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
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
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
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
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

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
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
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
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
Larcombe J
BMJ Clin Evid 2010 Feb 9;2010 PMID: 21733199Free PMC Article

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