Prenatal diagnosis and postnatal outcome of anterior urethral anomalies.

OBJECTIVES: Anterior urethral anomalies (AUA) which present as anterior urethral valve, stenosis or atresia, are a rare cause for congenital urinary tract obstruction. We present our AUA prenatal diagnosis case series. METHODS: Fetuses presenting with prenatal findings suggestive for AUA according to postnatal reported clinical and imaging signs (urinary tract dilatation, dilated bladder, enlarged edematous fetal penis, dilatation of the fetal urethra and diverticula) were followed prospectively. RESULTS: Six fetuses were diagnosed with AUA. Diagnosis was confirmed upon examination of the neonate or the abortus. All cases presented with variable degrees of urinary tract dilatation. Four fetuses who presented with additional congenital anomalies of the kidneys and urinary tract (CAKUT) developed intra-uterine or early postnatal renal failure, while two isolated AUA cases have a normal renal outcome. CONCLUSIONS: AUA is a rare diagnosis. However, high index of suspicion and careful sonographic assessment of the male fetal urethra in cases referred for urinary tract dilatation may enable appropriate parent counseling, optimal prenatal surveillance and timed postnatal urological intervention. As in other lower urinary tract obstructions, future renal function seems to correlate with associated CAKUT, therefore close follow up throughout pregnancy and meticulous sonographic assessment is recommended.

Survival and Kidney Outcomes of Children with an Early Diagnosis of Posterior Urethral Valves.

BACKGROUND AND OBJECTIVES: Posterior urethral valve is the most common cause of bladder outlet obstruction in infants. We aimed to describe the rate and timing of kidney-related and survival outcomes for children diagnosed with posterior urethral valves in United States children's hospitals using the Pediatric Health Information System database. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: This retrospective cohort study included children hospitalized between January 1, 1992 and December 31, 2006, who were in their first year of life, had a diagnosis of congenital urethral stenosis, and underwent endoscopic valve ablation or urinary drainage intervention, or died. Records were searched up to December 31, 2018 for kidney-related mortality, placement of a dialysis catheter, and kidney transplantation. Cox regression analysis was used to identify risk factors, and Kaplan-Meier survival analysis used to determine time-to-event probability. Subgroup survival analysis was performed with outcomes stratified by the strongest identified risk factor. RESULTS: Included were 685 children hospitalized at a median age of 7 (interquartile range, 1-37) days. Thirty four children (5%) died, over half during their initial hospitalization. Pulmonary hypoplasia was the strongest risk factor for death (hazard ratio, 7.5; 95% confidence interval [95% CI], 3.3 to 17.0). Ten-year survival probability was 94%. Fifty-nine children (9%) underwent one or more dialysis catheter placements. Children with kidney dysplasia had over four-fold risk of dialysis catheter placement (hazard ratio, 4.6; 95% CI, 2.6 to 8.1). Thirty-six (7%) children underwent kidney transplant at a median age of 3 (interquartile range, 2-8) years. Kidney dysplasia had a nine-fold higher risk of kidney transplant (hazard ratio, 9.5; 95% CI, 4.1 to 22.2). CONCLUSIONS: Patients in this multicenter cohort with posterior urethral valves had a 5% risk of death, and were most likely to die during their initial hospitalization. Risk of death was higher with a diagnosis of pulmonary hypoplasia. Kidney dysplasia was associated with a higher risk of need for dialysis/transplant. PODCAST: This article contains a podcast at https://www.asn-online.org/media/podcast/CJASN/2019_10_03_CJN04350419.mp3.

A classic twin study of lower urinary tract obstruction: Report of 3 cases and literature review.

OBJECTIVE: The aim of the present study was to investigate genetic effects in the formation of congenital lower urinary tract obstruction (LUTO) comprising posterior urethral valves (PUV), urethral atresia, and urethras with variable degrees of stenosis. METHODS: A classic twin study was performed by assessing LUTO twin pairs from the literature. Furthermore, data regarding 3 previously unreported twin pairs with PUV from University of Bonn, Essen and Wroclaws own in-house databases were added. Both pair- and probandwise concordance rates were calculated and compared for monozygotic (MZ) and dizygotic (DZ) twin pairs. RESULTS: The pairwise concordance rates for all LUTO were 53% (95% confidence interval [CI] 32%-73%) and 17% (95% CI 3%-56%) for MZ and DZ twin pairs, respectively (P = .180). The probandwise concordance rates were 69% (95% CI 51%-83%) and 29% (CI 95% 8%-64%) for MZ and DZ twin pairs respectively (P = .084). The MZ/DZ ratios of the pair- and probandwise concordance rates were 3.1 and 2.4, respectively. CONCLUSION: The present study did not show significant differences in comparisons of concordance rates of MZ and DZ twin pairs, probably due to the small number of twin pairs reported. However, the more than 2-fold higher pair- and probandwise concordance rates for MZ versus DZ twin pairs are very suggestive of a contribution of genetic factors to the development of LUTO.

Management of Congenital Urethral Strictures In Infants. Case Series.

PURPOSE: Infra-vesical obstruction is uncommon in infants and generally due to urethral valves. Congenital urethral strictures (CUS), instead, defined as a concentric narrowing of the urethral lumen, are exceedingly rare in infants. MATERIALS AND METHODS: We reviewed our experience with 7 patients treated at our institution for CUS

Familial Urethral Stricture, Five Adult Patients Overview.

Congenital stricture, specifically with manifestation in adulthood is extremely a rare cause of urethral stricture and is not associated with known etiologies. It was first described by Cobb et al., and to our knowledge only 5 families were reported in English literatures to have familial urethral stricture.We report two families with urethral stricture including five male patients referred to our tertiary reconstructive urology department during 1994 to 2017. The age and severity of symptoms at presentation are variable; as are the surgical interventions required. There are no phylogenetic, familiar or racial relationship between the two families described.

Combination of the fetal urinary metabolome and peptidome for the prediction of postnatal renal outcome in fetuses with PUV.

Most of biomarker panels, extracted from single omics traits, still need improvement since they display a gray zone where prediction is uncertain. Here we verified whether a combination of omics traits, fetal urinary metabolites and peptides analyzed in the same sample, improved prediction of postnatal renal function in fetuses with posterior urethral valves (PUV) compared to individual omics traits. Using CE-MS, we explored the urinary metabolome of 13 PUV fetuses with end stage renal disease (ESRD) and 12 PUV fetuses without postnatal ESRD at 2 years postnatally. This allowed the selection of 24 differentially abundant metabolite features which were modelled into predictive classifiers, alone or in combination with 12 peptides previously identified as predictive of ESRD. Validation in 35 new fetuses showed that the combination of peptides and metabolites significantly outperformed the 24 metabolite features with increased AUC (0.987 vs 0.905), net reclassification improvement (36%) and better sensitivity accuracy (86% vs 60%). In addition, the two trait combination tended to improve, but without reaching statistical significance, the already high performances of the 12 peptide biomarkers (AUC 0.967, accuracy 80%). In conclusion, this study demonstrates the potential of cumulating different omics traits in biomarker research where single omics traits fall short. SIGNIFICANCE: Although increasingly proposed in disease-diagnosis and -prognosis because of their improved efficacy over single markers, panels of body fluid biomarkers based on single omics analysis still fail to display perfect accuracy, probably due to biological variability. Here, we hypothesized that combination of different omics traits allowed to better capture this biological variability. As proof of concept, we studied the added value of fetal urine metabolites and peptides using CE-MS, starting from the same urine sample, to predict postnatal renal outcome in fetuses with posterior urethral valves. We observed that the prognostic power of combined metabolite and peptide markers was clearly higher than that of metabolites alone and slightly, but non-significantly, improved compared to the peptides alone. To our knowledge, this report is the first to demonstrate that combining multiomics traits extracted from (fetal) urine samples displays clear promise for kidney disease stratification.

Congenital Stenosis of the External Orifice of the Urethra in a Female Child.

Limited numbers of pediatric stenosis of the external orifice of the urethra have been reported. We report a case of congenital stenosis of the external orifice of the urethra in a female child who underwent meatoplasty. As an initial strategy for congenital stenosis of the external orifice of the urethra in girls, dilatation of the stenosed urethral meatus may be another management of choice.

Instrumentación transuretral en portadores de esfínter urinario artificial. Presentación y discusión de tres casos clínicos / Transurethral instrumentation in patients with artificial urinary sphincter. Presentation and discussion of three clinical cases

El tratamiento para la incontinencia urinaria masculina de esfuerzo severa es la colocación de un esfínter urinario artificial (EUA). La etiología de la incontinencia con frecuencia es la cirugía prostática previa. Los resultados funcionales son buenos con una tasa aceptable de complicaciones. Las complicaciones son más frecuentes si existe radioterapia previa o se realizan procedimientos transuretrales sin tener en cuenta la presencia del manguito del EUA. Cuando es necesaria la cirugía transuretral, por ejemplo por tumor vesical, es necesario realizar el desabrochado del manguito esfinteriano. Los sondajes uretrales precisan también desactivar el manguito y manipular la uretra con sumo cuidado, evitando su manipulación siempre que sea posible. Se presentan tres casos muy complejos de pacientes portadores de EUA que han precisado diversas soluciones ante manipulación uretral y presencia de complicaciones como estenosis de uretra (AU)

Artificial urinary sphincter (AS) is the gold standard treatment for severe male urinary stress incontinence. The etiology of incontinence is often previous prostate surgery as a radical prostatectomy. Functional results are good with an acceptable rate of complications. If there is prior radiotherapy complications are more frequent. When transurethral surgery, for example for bladder tumor is needed, it is necessary unbuttoned the sleeve. Urethral soundings need also turn off the sleeve and manipulate the urethra carefully, avoiding handling whenever possible. We present three very complex cases of patients with US showing several solutions to urethral manipulation and to resolve complications such as urethral perforation and stricture (AU)

Free tubularised vesical mucosa graft for congenital stenosis of the urethra in children.

BACKGROUND: Reconstruction of urethral strictures in children remains a challenge to the pediatric surgeon as these are often related to different rare congenital anomalies with various clinical presentations that endanger renal function and should be repaired in young children. Multiple techniques have been described for their repair. We aimed to determine whether the use of a free tubularised bladder mucosal graft associated to a prior tubeless vesicostomy was feasible and sure, as this technique of reconstruction using tubularised grafts has not been described yet in young children. RESULTS: Two newborn male patients were referred to our department. Both presented a congenital stenosis of the urethra as a part of a complex urethral malformation. Surgery involved prior tubeless vesicostomy, free bladder mucosal graft for urethral reconstruction, and vesicostomy closure for both children. Postoperative evolution was satisfying in both children and cystourethroscopy showed permeable urethra. Satisfying cosmetic and functional results have been obtained in the two cases. CONCLUSIONS: The prior vesicostomy prevents kidney damage in the context of complex genital and urinary malformations. Bladder mucosa's immunohistological properties are the most similar to those of the urethral tissue, and are appropriate for this type of correction, making our technique feasible and sure. LEVEL OF EVIDENCE: 5.

Congenital urethral stenosis in a male miniature piglet.

A 2-month-old male miniature pig showed progressive abdominal pain, pollakiuria, and stranguria that progressed to complete urinary obstruction. Postmortem examination revealed idiopathic urethral stenosis at the level of the recess, of probable congenital origin. Urinary tract malformations should be included in the differential diagnosis of miniature piglets with urinary disorders.

Sténose urétrale congénitale chez un cochon miniature mâle. Un porcelet miniature mâle âgé de 2 mois a été présenté pour de la douleur abdominale s'aggravant, de la pollakiurie et de la strangurie évoluant jusqu'à une obstruction urinaire complète. L'examen postmortem a révélé une sténose urétrale idiopathique au niveau du récessus, d'origine congénitale probable. Il convient d'inclure les malformations du tractus urinaire dans le diagnostic différentiel des troubles urinaires chez le porcelet miniature.(Traduit par les auteurs).

Posterior urethral valves: long-term outcome.

Posterior urethral valves represent the most common cause of bladder outlet obstruction in infancy that impairs renal and bladder function. Long-term outcome of patients with previous PUV is evaluated. Patients over 18 years of age, treated from 1982 to 1995 before the age of 3 years were considered. Previous surgery, renal function, bladder activity, urinary incontinence, and fertility/sexual activity were evaluated. Clinical interview, creatinine clearance, uroflowmetry with ultrasound post-void urine residue, and self-administered questionnaire were recorded. Out of 45 identified records, 24 patients (53.3%) accepted to be enrolled (age 18-34 years, mean 23 years). The mean follow-up was 19.5 years (16-30 years). Out of the 21 excluded patients, 20 did not reply to the clinical interview and 1 died at age of 6 years. All the 24 patients had early endoscopic section of PUV; nine also received transient ureterocutaneostomy or vesicostomy. Ureteroneocystostomy was performed in five patients and ureterocystoplasty with unilateral nephrectomy in two. At follow-up chronic renal failure was detected in 13 patients (54.1%) and 9 (37.5%) had arterial hypertension. End-stage renal disease developed in five patients (20.8%): three had successful renal transplantation and two were in dialysis. Lower urinary tract symptoms were present in seven patients (29.1%). No significant fertility deficit and sexual dysfunction were observed in 23 patients, while 1 patient was azoospermic. No paternity was reported so far. Long-term outcome of patients with previously treated PUV is mandatory. Kidney, bladder, and sexual functions should be monitored till adulthood to verify any modified behaviour.

Megacystis secondary to congenital urethral stricture.

Functional bladder capacity at a certain age can be accurately estimated and expressed as a function of age. We present a 13-year-old boy with abdominal distention who was presumed to have ascites. Abdominal ultrasound revealed that the bladder was severely distended, and cystoscopy showed a short stricture in the bulbar urethra followed by a large bladder without obvious borders. Under general anesthesia, bladder capacity was 9250 cc. Reduction cystoplasty was performed. At the 2-year follow-up, he voided spontaneously with 20 cc post-void residual urine.

Ureterocystoplasty: an ideal method for vesical augmentation in children.

BACKGROUND: Inadequate therapy endangers upper urinary tract function in children with low compliance bladders. We report our approach of increasing bladder compliance using the patients own (mega)-ureter for bladder augmentation. PATIENTS: A total of 8 children underwent ureterocystoplasty. The etiology of bladder non-compliance and the need for augmentation was neurogenic in 5 children, posterior urethral valves in 2 children and in one child the situation after repeated antireflux surgery. In all patients the kidney of the used ureter was functionless. Surgery was done through a transperitoneal approach. After nephrectomy, the renal pelvis and the ureter were spatulated and sutured into the bladder incision. An additional MACE stoma was made in 3 patients, antireflux surgery for the contralateral kidney was necessary in 2 patients and one patient underwent stone removal in the remaining kidney. In 1 patient the ureter was used as a free transplant and was covered by an omental flap. In addition, a simultaneous living donor kidney transplant was performed (case 2). RESULTS: Bladder capacity and compliance improved significantly in all patients. The function of the ureter which was used as a free transplant showed good clinical results. The longest follow-up is 8 years. CONCLUSION: Ureterocystoplasty is a useful and metabolically neutral alternative to bowel segments. In patients with only one functioning kidney and a contralateral megaureter, ureterocystoplasty is the treatment of choice in our institution.

Aetiology and treatment of symptomatic idiopathic urethral strictures in children.

OBJECTIVE: To report the presentation and treatment outcomes on a series of 12 paediatric bulbar or posterior urethral strictures that were possibly congenital in origin, identified in a 9-year period. METHODS: A retrospective case-note review of all cases of urethral strictures thought to be congenital in origin, prospectively collected into the departmental database. RESULTS: The age at presentation had a bimodal distribution with 6/12 presenting in the first year of life of which four had antenatal hydronephrosis and 5/12 presenting after the age of 11 years. All six patients under 1-year old had a successful outcome following urethrotomy and urethral dilatation. Four of five over 11 years of age ultimately required an urethroplasty and one 3-year-old may well require an urethroplasty in the future. CONCLUSION: This outcome, in conjunction with the bimodal age distribution at presentation, would suggest a different aetiology in older children, and we would urge caution in classifying strictures in ambulant children as genuinely congenital, as this population may represent the long-term manifestation of unrecorded bulbar urethral trauma or asymptomatic inflammation. Optical urethrotomy or dilatation is durable when treated in infancy, but older patients do not experience prolonged resolution and we would recommend treatment along adult lines for these.

[Pre-emptive renal transplantation in a boy with obstructive uropathy following reconstruction procedures]. / Przeszczep nerki u pacjenta z zastawka cewki tylnej (ZCT) po zabiegach plastyki pecherza moczowego.

Patients with bladder dysfunction comprise over 30% of pediatric patients on renal replacement therapy. We report on a successful cadaveric pre-emptive renal transplantation performed in a boy born with posterior urethral valve. Following bilateral ureterocutaneostomies, left nephrectomy and valve resection, at 6 years of age a continent ileocolonocystoplasty was performed. The boy started intermittent daytime catheterization, passing urine both via urethra and fistula. At the age of 18 he received a renal transplant. Continuing the previous regime, at 1.5 years follow up his graft is well functioning (GFR >75 ml/min/1.73 m2) with sporadic episodes of urinary tract infection.

Bladder agenesis in a male neonate.

Bladder agenesis, especially in male, is a rare congenital anomaly. This is a case report of a male patient with several congenital anomalies including penoscrotal transposition, severe kidney's dysplasia, and agenesis of the bladder. The patient lived for 4 months and died because of severe pneumonia.

Estimación del riesgo radiológico asociado a la dilatación endourológica de la estenosis pieloureteral congénita en pacientes pediátricos / Evaluation of radiological risk associated tod pieloureteral surgery in paediatric patients

Introducción y objetivos. El uso de radiaciones ionizantes (RI),como instrumento útil en determinadas intervenciones quirúrgicas, hace conveniente la evaluación de los riesgos radiológicos derivados de su empleo. Este riesgo es especialmente relevante en el caso de pacientes pediátricos, debido a su mayor radiosensibilidad y esperanza de vida. El objetivo de este trabajo es, descartados los efectos deterministas, estimarlos riesgos probabilísticos inducidos por las RI en la dilatación endourológica de la estenosis píelo-ureteral (EPU), así como establecer niveles de referencia de dosis en este tipo de cirugía. Material y métodos. El estudio se ha realizado para 20 pacientes pediátricos de ambos sexos, con edades comprendidas entre 2 meses y 9 años, sometidos a intervenciones de dilatación endourológica dela EPU congénita durante los años 2006 y 2007. Se conocen el tiempo de escopia y el valor proporcionado por el equipo de radiodiagnóstico del producto dosis-área. Además se han utilizado dosímetros termoluminescentes para la evaluación de la dosis máxima de entrada en piel y películas radiográficas para verificar la zona irradiada y la dosis. Resultados. La dosis efectiva media por minuto para pacientes menores de 5 años es 0,36mSv, y 0,43mSv para pacientes mayores de esta edad, resultados inferiores a los publicados en la bibliografía para este tipo de intervenciones. El riesgo total medio de inducción de un cáncer fatal en cualquier localización, incluyendo todos los grupos de edad, es un 0,012%. La dosis máxima de entrada en piel es 19.81mGy,siendo 2Gy el umbral de dosis para la aparición de efectos deterministas en piel. Conclusiones. A pesar de que el riesgo de efectos probabilísticos es pequeño, es recomendable el uso de todos los métodos de protección radiológica disponibles y una coordinación más estrecha entre los diferentes colectivos implicados, para la correcta optimización de las dosis (AU)

Introduction. Because of the application of ionising radiation in surgical procedures, it is necessary to perform an evaluation of the radiological risks. Potential hazards are of greater influence in paediatric patients, due to their longer life expectancy and greater radio sensibility. The aim of this paper was, with the exception of deterministic injuries, trying to evaluate patient doses and stochastic risks induced by ionising radiations in paediatric pieloureteral surgery. Material and methods. Twenty paediatric patients of both sexes, from 2 months to 9 years, were included in the study. All the procedures were performed in 2006 and 2007. The X-Ray equipment shows fluoroscopy time and dose area product in each procedure, thermoluminiscent dosimeters (TLD’s) measure patient´s skin dose and non screen films verify the radiated field and dose. Results. The average effective dose per minute was 0.36mSv for patients under 5 year old and 0.43mSv for over 5. These figures were lower than previously published results for this kind of surgery. The average total risk of fatal cancer induction in any location, for each study group, was 0.012%. Maximum skin dose was 19.81mGy, which is well below the threshold for deterministic injuries (2 Gy).Conclusions. Although stochastic risks were small, it´s highly recommended to employ all the available methods and techniques developed for patient radiological protection. A strong coordination between team members is advisable for improving the dose optimization (AU)