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Vesicoureteral reflux 1(VUR1)

MedGen UID:
1644868
Concept ID:
C4551858
Disease or Syndrome
Synonym: VUR1
 
Monarch Initiative: MONDO:0008653
OMIM®: 193000

Clinical features

From HPO
Vesicoureteral reflux
MedGen UID:
21852
Concept ID:
C0042580
Disease or Syndrome
Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by Lu et al., 2007). Genetic Heterogeneity of Vesicoureteral Reflux A locus designated VUR1 maps to chromosome 1p13. VUR2 (610878) is caused by mutation in the ROBO2 gene (602431) on chromosome 3p12; VUR3 (613674) is caused by mutation in the SOX17 gene (610928) on chromosome 8q11; VUR4 (614317) maps to chromosome 5; VUR5 (614318) maps to chromosome 13; VUR6 (614319) maps to chromosome 18; VUR7 (615390) maps to chromosome 12; and VUR8 (615963) is caused by mutation in the TNXB gene (600985) on chromosome 6p21. A possible X-linked form has been reported (VURX; 314550).
Abnormality of the skeletal system
MedGen UID:
867418
Concept ID:
C4021790
Anatomical Abnormality
An abnormality of the skeletal system.

Professional guidelines

PubMed

Hensle TW, Grogg AL
Curr Med Res Opin 2007 Sep;23 Suppl 4:S1-5. doi: 10.1185/030079907X226212. PMID: 17931478
Benoit RM, Peele PB, Docimo SG
J Urol 2006 Oct;176(4 Pt 1):1588-92; discussion 1592. doi: 10.1016/j.juro.2006.06.031. PMID: 16952694

Recent clinical studies

Etiology

Sui W, Lipsky MJ, Matulay JT, Robins DJ, Onyeji IC, James MB, Theofanides MC, Wenske S
Exp Clin Transplant 2018 Dec;16(6):665-670. Epub 2017 Jul 11 doi: 10.6002/ect.2016.0357. PMID: 28697717
Sager C, Burek C, Durán V, Corbetta JP, Weller S, Paz E, López JC
Pediatr Surg Int 2011 Apr;27(4):423-30. Epub 2010 Aug 31 doi: 10.1007/s00383-010-2704-4. PMID: 20809115
Chacko JK, Koyle MA, Mingin GC, Furness PD 3rd
J Urol 2007 Oct;178(4 Pt 2):1689-92. Epub 2007 Aug 17 doi: 10.1016/j.juro.2007.05.098. PMID: 17707022
Piaggio LA, González R
J Urol 2007 Jun;177(6):2311-4. doi: 10.1016/j.juro.2007.02.004. PMID: 17509347

Diagnosis

Reck-Burneo CA, Lane V, Bates DG, Hogan M, Thompson B, Gasior A, Weaver L, Dingemans AJM, Maloof T, Hoover E, Gagnon R, Wood R, Levitt M
J Pediatr Surg 2019 Aug;54(8):1590-1594. Epub 2019 Apr 4 doi: 10.1016/j.jpedsurg.2019.03.016. PMID: 31027906
Sui W, Lipsky MJ, Matulay JT, Robins DJ, Onyeji IC, James MB, Theofanides MC, Wenske S
Exp Clin Transplant 2018 Dec;16(6):665-670. Epub 2017 Jul 11 doi: 10.6002/ect.2016.0357. PMID: 28697717
Piaggio LA, González R
J Urol 2007 Jun;177(6):2311-4. doi: 10.1016/j.juro.2007.02.004. PMID: 17509347

Therapy

Sui W, Lipsky MJ, Matulay JT, Robins DJ, Onyeji IC, James MB, Theofanides MC, Wenske S
Exp Clin Transplant 2018 Dec;16(6):665-670. Epub 2017 Jul 11 doi: 10.6002/ect.2016.0357. PMID: 28697717

Prognosis

Reck-Burneo CA, Lane V, Bates DG, Hogan M, Thompson B, Gasior A, Weaver L, Dingemans AJM, Maloof T, Hoover E, Gagnon R, Wood R, Levitt M
J Pediatr Surg 2019 Aug;54(8):1590-1594. Epub 2019 Apr 4 doi: 10.1016/j.jpedsurg.2019.03.016. PMID: 31027906
Sui W, Lipsky MJ, Matulay JT, Robins DJ, Onyeji IC, James MB, Theofanides MC, Wenske S
Exp Clin Transplant 2018 Dec;16(6):665-670. Epub 2017 Jul 11 doi: 10.6002/ect.2016.0357. PMID: 28697717
Piaggio LA, González R
J Urol 2007 Jun;177(6):2311-4. doi: 10.1016/j.juro.2007.02.004. PMID: 17509347

Clinical prediction guides

Reck-Burneo CA, Lane V, Bates DG, Hogan M, Thompson B, Gasior A, Weaver L, Dingemans AJM, Maloof T, Hoover E, Gagnon R, Wood R, Levitt M
J Pediatr Surg 2019 Aug;54(8):1590-1594. Epub 2019 Apr 4 doi: 10.1016/j.jpedsurg.2019.03.016. PMID: 31027906
Sui W, Lipsky MJ, Matulay JT, Robins DJ, Onyeji IC, James MB, Theofanides MC, Wenske S
Exp Clin Transplant 2018 Dec;16(6):665-670. Epub 2017 Jul 11 doi: 10.6002/ect.2016.0357. PMID: 28697717
Chacko JK, Koyle MA, Mingin GC, Furness PD 3rd
J Urol 2007 Oct;178(4 Pt 2):1689-92. Epub 2007 Aug 17 doi: 10.1016/j.juro.2007.05.098. PMID: 17707022

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