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Vesicoureteral reflux 2(VUR2)

MedGen UID:
370270
Concept ID:
C1970483
Disease or Syndrome
Synonym: VUR2
 
Gene (location): ROBO2 (3p12.3)
 
Monarch Initiative: MONDO:0012573
OMIM®: 610878

Definition

Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene. [from MONDO]

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).
Renal hypoplasia
MedGen UID:
120571
Concept ID:
C0266295
Congenital Abnormality
Hypoplasia of the kidney.

Professional guidelines

PubMed

Hunziker M, Mohanan N, Puri P
J Urol 2013 May;189(5):1876-81. Epub 2012 Nov 14 doi: 10.1016/j.juro.2012.11.048. PMID: 23159268
Benoit RM, Peele PB, Cannon GM Jr, Docimo SG
J Urol 2006 Dec;176(6 Pt 1):2649-53; discussion 2653. doi: 10.1016/j.juro.2006.08.054. PMID: 17085183
Okeke Z, Fromer D, Katz MH, Reiley EA, Hensle TW
J Urol 2006 Nov;176(5):2219-21. doi: 10.1016/j.juro.2006.07.076. PMID: 17070296

Recent clinical studies

Etiology

van den Heijkant MM, Dik P, Klijn AJ, Chrzan R, Kuijper CF, de Jong TP
J Urol 2013 Jan;189(1):295-9. Epub 2012 Nov 20 doi: 10.1016/j.juro.2012.09.004. PMID: 23174243
González R, Piaggio L
J Urol 2007 Jun;177(6):2315-8. doi: 10.1016/j.juro.2007.01.177. PMID: 17509348
Okeke Z, Fromer D, Katz MH, Reiley EA, Hensle TW
J Urol 2006 Nov;176(5):2219-21. doi: 10.1016/j.juro.2006.07.076. PMID: 17070296
Geavlete P, Georgescu D, Niţă G, Mirciulescu V, Cauni V
J Endourol 2006 Mar;20(3):179-85. doi: 10.1089/end.2006.20.179. PMID: 16548724

Diagnosis

De Petris L, Ruffini E
CEN Case Rep 2018 Nov;7(2):234-236. Epub 2018 May 2 doi: 10.1007/s13730-018-0333-2. PMID: 29721836Free PMC Article
González R, Piaggio L
J Urol 2007 Jun;177(6):2315-8. doi: 10.1016/j.juro.2007.01.177. PMID: 17509348
Geavlete P, Georgescu D, Niţă G, Mirciulescu V, Cauni V
J Endourol 2006 Mar;20(3):179-85. doi: 10.1089/end.2006.20.179. PMID: 16548724
Yu TJ
J Urol 2002 Sep;168(3):1135-7. doi: 10.1016/S0022-5347(05)64610-1. PMID: 12187254
Boudailliez B, André JL, Broyer M, Davin JC, Landthaler G, Palcoux JB
Pediatr Nephrol 1988 Oct;2(4):431-5. doi: 10.1007/BF00853437. PMID: 2484654

Therapy

De Petris L, Ruffini E
CEN Case Rep 2018 Nov;7(2):234-236. Epub 2018 May 2 doi: 10.1007/s13730-018-0333-2. PMID: 29721836Free PMC Article
Geavlete P, Georgescu D, Niţă G, Mirciulescu V, Cauni V
J Endourol 2006 Mar;20(3):179-85. doi: 10.1089/end.2006.20.179. PMID: 16548724
Boudailliez B, André JL, Broyer M, Davin JC, Landthaler G, Palcoux JB
Pediatr Nephrol 1988 Oct;2(4):431-5. doi: 10.1007/BF00853437. PMID: 2484654

Prognosis

González R, Piaggio L
J Urol 2007 Jun;177(6):2315-8. doi: 10.1016/j.juro.2007.01.177. PMID: 17509348
Geavlete P, Georgescu D, Niţă G, Mirciulescu V, Cauni V
J Endourol 2006 Mar;20(3):179-85. doi: 10.1089/end.2006.20.179. PMID: 16548724

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