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Familial vesicoureteral reflux

MedGen UID:
1637583
Concept ID:
C4706552
Congenital Abnormality
Synonyms: familial vesicoureteral reflux; Familial VUR; familial VUR; hereditary vesicoureteral reflux (disease)
SNOMED CT: Familial vesicoureteral reflux (763716008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Related genes: SOX17, TNXB, ROBO2
 
Monarch Initiative: MONDO:0017329
OMIM® Phenotypic series: PS193000
Orphanet: ORPHA289365

Definition

A rare non-syndromic urogenital tract malformation with the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible. [from SNOMEDCT_US]

Professional guidelines

PubMed

Yoneda A, Oue T, Puri P
Pediatr Surg Int 2001 May;17(4):308-11. doi: 10.1007/s003830100600. PMID: 11409168

Recent clinical studies

Etiology

Hunziker M, Puri P
J Urol 2012 Oct;188(4 Suppl):1463-6. Epub 2012 Aug 17 doi: 10.1016/j.juro.2012.02.024. PMID: 22906681
Hunziker M, Mohanan N, Menezes M, Puri P
Pediatr Surg Int 2010 Jan;26(1):115-7. doi: 10.1007/s00383-009-2516-6. PMID: 19936763
Menezes M, Puri P
J Urol 2009 Oct;182(4 Suppl):1673-7. Epub 2009 Aug 19 doi: 10.1016/j.juro.2009.02.087. PMID: 19692047
Pirker ME, Mohanan N, Colhoun E, Barton D, Green A, Puri P
J Urol 2006 Oct;176(4 Pt 2):1776-80. doi: 10.1016/j.juro.2006.03.114. PMID: 16945647
Jerkins GR, Noe HN
J Urol 1982 Oct;128(4):774-8. doi: 10.1016/s0022-5347(17)53184-5. PMID: 7143601

Diagnosis

Giannotti G, Menezes M, Hunziker M, Puri P
Pediatr Surg Int 2011 May;27(5):513-5. doi: 10.1007/s00383-010-2821-0. PMID: 21258940
Hunziker M, Mohanan N, Menezes M, Puri P
Pediatr Surg Int 2010 Jan;26(1):115-7. doi: 10.1007/s00383-009-2516-6. PMID: 19936763
Menezes M, Puri P
J Urol 2009 Oct;182(4 Suppl):1673-7. Epub 2009 Aug 19 doi: 10.1016/j.juro.2009.02.087. PMID: 19692047
Pirker ME, Mohanan N, Colhoun E, Barton D, Green A, Puri P
J Urol 2006 Oct;176(4 Pt 2):1776-80. doi: 10.1016/j.juro.2006.03.114. PMID: 16945647
Chertin B, Puri P
J Urol 2003 May;169(5):1804-8. doi: 10.1097/01.ju.0000058428.00284.d5. PMID: 12686848

Therapy

Chertin B, Puri P
J Urol 2003 May;169(5):1804-8. doi: 10.1097/01.ju.0000058428.00284.d5. PMID: 12686848
Zel G, Retik AB
Urology 1973 Sep;2(3):249-51. doi: 10.1016/0090-4295(73)90457-3. PMID: 4747662

Prognosis

Anderson NG, Wright S, Abbott GD, Wells JE, Mogridge N
Pediatr Nephrol 2003 Sep;18(9):902-5. Epub 2003 Jul 23 doi: 10.1007/s00467-003-1209-y. PMID: 12883970
Chertin B, Puri P
J Urol 2003 May;169(5):1804-8. doi: 10.1097/01.ju.0000058428.00284.d5. PMID: 12686848
Peeden JN Jr, Noe HN
Pediatrics 1992 Apr;89(4 Pt 2):758-60. PMID: 1302456

Clinical prediction guides

Onal B, Miao X, Ozonoff A, Bauer SB, Retik AB, Nguyen HT
J Urol 2012 Oct;188(4 Suppl):1467-73. Epub 2012 Aug 17 doi: 10.1016/j.juro.2012.02.018. PMID: 22906679
Briggs CE, Guo CY, Schoettler C, Rosoklija I, Silva A, Bauer SB, Retik AB, Kunkel L, Nguyen HT
Eur J Hum Genet 2010 Feb;18(2):245-50. Epub 2009 Aug 19 doi: 10.1038/ejhg.2009.142. PMID: 19690587Free PMC Article
Anderson NG, Wright S, Abbott GD, Wells JE, Mogridge N
Pediatr Nephrol 2003 Sep;18(9):902-5. Epub 2003 Jul 23 doi: 10.1007/s00467-003-1209-y. PMID: 12883970
Mackintosh P, Almarhoos G, Heath DA
Tissue Antigens 1989 Sep;34(3):185-9. doi: 10.1111/j.1399-0039.1989.tb01735.x. PMID: 2595723

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