Anterior and posterior urethral valves with subcoronal hypospadias: a rare association

Bhagat, Suresh K.; Gopalakrishnan, Ganesh; Kekre, Nitin S; Kumar, Santosh

doi:10.1016/j.jpedsurg.2008.04.026

Cited by 12 publications

(8 citation statements)

References 5 publications

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“…AUV and AUD should be also considered in the differential diagnosis, as the clinical presentation of these entities might be similar . However, the concomitant presence of AUV and PUV is rarely addressed in the literature, and our understanding of these patients is confined to a few case reports . In the present study, we reported six cases of concomitant AUV + PUV with a focus on their clinical and radiological presentations, and urodynamic findings.…”

Section: Discussionmentioning

confidence: 87%

Concomitant anterior and posterior urethral valves in pediatrics: A single center experience over 12 years and long‐term follow up after endoscopic treatment

et al. 2015

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Abbreviations & Acronyms AUD = anterior urethral diverticulum AUV = anterior urethral valve DMSA = Tc-99m dimercaptosuccinic acid radionuclide scan NA = not available P detmax = detrusor pressure at maximum flow PUV = posterior urethral valve TUF = transurethral fulguration of valves TUR = transurethral resection of valves Trab = bladder trabeculation UDS = urodynamic study UTI = urinary tract infection V = vesicostomy VCUG = voiding cystourethrography VUR = vesicoureteral reflux Objective: To report our 12-year experience with endoscopic management of patients with concomitant anterior and posterior urethral valves. Methods: We retrospectively reviewed the charts of patients referred to us for management of urethral valves from 2000 to 2012 to find cases with concomitant anterior and posterior valves. The diagnosis of valves was first suspected on voiding cystourethrography and confirmed by urethrocystoscopy. We collected available data on patients' age at diagnosis, clinical presentations, ultrasound and urodynamic findings, and surgical treatments. The final outcome at last follow up was also recorded. Results: From 38 cases with anterior urethral valve, six (15.8%) presented concomitant anterior and posterior valves. The age at diagnosis in these patients ranged from antenatal diagnosis to 13 years. Initial presenting symptoms were recurrent urinary tract infection, incontinence, urosepsis and poor urinary stream. All valves were ablated by transurethral fulguration/resection using small-sized urethrocystoscopes. Among those with concomitant anterior and posterior valves, four patients had vesicoureteral reflux at presentation that resolved in two patients after valve ablation. One patient progressed to renal failure and required dialysis. Bladder hypercontractility and detrusor overactivity were the main urodynamic patterns in these patients. Conclusions: Concomitant anterior and posterior valves seem to be more prevalent than previously assumed, and might be missed on initial assessment. Oblique view voiding cystourethrography with full-length delineation of the urethra is of paramount diagnostic importance when obstruction is suspected. A meticulous urethrocystoscopy should follow for confirming the diagnosis and endoscopic ablation/resection of the valves.

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Section: Discussionmentioning

confidence: 87%

Concomitant anterior and posterior urethral valves in pediatrics: A single center experience over 12 years and long‐term follow up after endoscopic treatment

et al. 2015

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“…Rarely, some cases present in late childhood or early adolescence with voiding dysfunction and CKD [1]. The radiological manifestation ranges from mild urethral dilatation to bilateral severe hydronephrosis, VUR, urinary ascites, and bladder rupture [8].…”

Section: Discussionmentioning

confidence: 99%

Gross Hematuria as a Presenting Feature of Posterior Urethral Valves in a Neonate with Normal Antenatal Sonograms

2020

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Background: Posterior urethral valves (PUVs) are usually suspected during antenatal sonograms or by postnatal evidence of bilateral hydronephrosis with enlarged bladder. Gross hematuria as an initial manifestation of PUV with a history of normal antenatal sonogram is very rare. Methods: This is a retrospective chart study. Results: We describe a nine-day-old male neonate who presented with gross hematuria and was later found to have a urinary tract infection (UTI) and severe acute kidney injury (AKI). The mother apparently had normal antenatal sonograms with no evidence of fetal hydronephrosis. The child did not have postnatal renal bladder sonogram done until gross hematuria occurred at Day 9 of life. Sonogram showed bilateral severe hydronephrosis and hydroureter with enlarged bladder. The patient underwent ablation of the PUVs after initial bladder decompression with indwelling urethral catheterization. His AKI resolved after prompt treatment of UTI and PUV ablation. Conclusions: This report emphasizes the importance of a high index of suspicion for obstructive uropathy in a newborn with gross hematuria irrespective of prenatal sonogram findings.

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“…Although reports of hypospadias occurring in conjunction with PUV are rare [Bhagat et al, 2008; Carvell and Mulik, 2013; Ranawaka and Dickson, 2013], several gene variants, including BMP7 , that contribute to early urethral development have been shown to be associated with hypospadias risk in humans [Carmichael et al, 2013]. …”

Section: Discussionmentioning

confidence: 99%

Rare copy number variants implicated in posterior urethral valves

Boghossian

Sicko

Kay

et al. 2015

American J of Med Genetics Pt A

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The cause of posterior urethral valves (PUV) is unknown, but genetic factors are suspected given their familial occurrence. We examined cases of isolated PUV to identify novel copy number variants (CNVs). We identified 56 cases of isolated PUV from all live-births in New York State (1998–2005). Samples were genotyped using Illumina HumanOmni2.5 microarrays. Autosomal and sex-linked CNVs were identified using PennCNV and cnvPartition software. CNVs were prioritized for follow-up if they were absent from in-house controls, contained ≥10 consecutive probes, were ≥20 Kb in size, had ≤20% overlap with variants detected in other birth defect phenotypes screened in our lab, and were rare in population reference controls. We identified 47 rare candidate PUV-associated CNVs in 32 cases; one case had a 3.9 Mb deletion encompassing BMP7. Mutationsin BMP7 have been associated with severe anomalies in the mouse urethra. Other interesting CNVs, each detected in a single PUV case included: a deletion of PIK3R3 and TSPAN1, duplication/triplication in FGF12, duplication of FAT1—a gene essential for normal growth and development, a large deletion (>2 Mb) on chromosome 17q that involves TBX2 and TBX4, and large duplications (>1 Mb) on chromosomes 3q and 6q. Our finding of previously unreported novel CNVs in PUV suggests that genetic factors may play a larger role than previously understood. Our data show a potential role of CNVs in up to 57% of cases examined. Investigation of genes in these CNVs may provide further insights into genetic variants that contribute to PUV.

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Anterior and posterior urethral valves with subcoronal hypospadias: a rare association

Cited by 12 publications

References 5 publications

Concomitant anterior and posterior urethral valves in pediatrics: A single center experience over 12 years and long‐term follow up after endoscopic treatment

Concomitant anterior and posterior urethral valves in pediatrics: A single center experience over 12 years and long‐term follow up after endoscopic treatment

Gross Hematuria as a Presenting Feature of Posterior Urethral Valves in a Neonate with Normal Antenatal Sonograms

Rare copy number variants implicated in posterior urethral valves

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