Prevalence of high-risk bladder categorization with prenatal and postnatal myelomeningocele repair types.

INTRODUCTION: Urologic substudies of prenatal myelomeningocele (MMC) closure have focused primarily on continence without significant clinical benefit. Fetoscopic MMC repair (FMR) is a newer form of prenatal intervention and touts added benefits to the mother, but urological outcomes have yet to be analyzed. We set out to focus on bladder safety rather than continence and examined bladder outcomes with different prenatal MMC repairs (FMR and prenatal open [POMR]) and compared bladder-risk-categorization to traditional postnatal repair (PSTNR). METHODS: An IRB-approved retrospective analysis of all patients undergoing all forms of MMC repairs with inclusion and exclusion criteria based on the MOMS trial was performed. Bladder safety assessment required initial urodynamic studies (UDS), renal bladder ultrasound (RBUS), and/or voiding cystourethrogram (VCUG) within the 1st year of life. Follow-up analyses within the cohorts required follow-up studies within 18 months after initial evaluations. Outcomes assessed included bladder-risk-categorization based on the CDC UMPIRE study (high, intermediate, and safe), hydronephrosis (HN), and vesicoureteral reflux (VUR). A single reader evaluated each UDS. RESULTS: Initial UDS in 93 patients showed that the prevalence of high-risk bladders were 35% FMR versus 36% PSTNR and 60% POMR. Follow-up UDS showed only 8% of FMR were high-risk compared to 35% POMR and 36% PSTNR. Change from initial to follow-up bladder-risk-category did not reach significance (p = .0659); however, 10% PSTNR worsened to high-risk on follow-up, compared to none in either prenatal group. Subanalysis of follow-up UDS between the prenatal cohorts also was not significant (p = .055). Only 8% of FMR worsened or stayed high-risk compared to 35% with POMR (p = .1). HN was significantly different at initial and subsequent follow up between the groups with the least in the FMR group. CONCLUSIONS: Early outcome UDS analyses demonstrated lower incidence of high-risk bladders in FMR patients with a trend toward clinically significant improvement compared to POMR in regard to all evaluated metrics. Larger, prospective, confirmatory studies are needed to further evaluate the potential benefits on FMR on bladder safety and health.

From gene discovery to new biological mechanisms: heparanases and congenital urinary bladder disease.

We present a scientific investigation into the pathogenesis of a urinary bladder disease. The disease in question is called urofacial syndrome (UFS), a congenital condition inherited in an autosomal recessive manner. UFS features incomplete urinary bladder emptying and vesicoureteric reflux, with a high risk of recurrent urosepsis and end-stage renal disease. The story starts from a human genomic perspective, then proceeds through experiments that seek to determine the roles of the implicated molecules in embryonic frogs and newborn mice. A future aim would be to use such biological knowledge to intelligently choose novel therapies for UFS. We focus on heparanase proteins and the peripheral nervous system, molecules and tissues that appear to be key players in the pathogenesis of UFS and therefore must also be critical for functional differentiation of healthy bladders. These considerations allow the envisioning of novel biological treatments, although the potential difficulties of targeting the developing bladder in vivo should not be underestimated.

Her belly button is leaking: a case of patent urachus.

Patent urachus is one of the least commonly seen of the urachal anomalies. In this report, we present a case of a patent urachus in a15-day-old female who presented with leakage from the umbilical site. The purpose of this article is to discuss the embryology, clinical manifestations, diagnosis, and management of patent urachus.

Genetics of human congenital urinary bladder disease.

Lower urinary tract and/or kidney malformations are collectively the most common cause of end-stage renal disease in children, and they are also likely to account for a major subset of young adults requiring renal replacement therapy. Advances have been made regarding the discovery of the genetic causes of human kidney malformations. Indeed, testing for mutations of key nephrogenesis genes is now feasible for patients seen in nephrology clinics. Unfortunately, less is known about defined genetic bases of human lower urinary tract anomalies. The focus of this review is the genetic bases of congenital structural and functional disorders of the urinary bladder. Three are highlighted. First, prune belly syndrome, where mutations of CHRM3, encoding an acetylcholine receptor, HNF1B, encoding a transcription factor, and ACTA2, encoding a cytoskeletal protein, have been reported. Second, the urofacial syndrome, where mutations of LRIG2 and HPSE2, encoding proteins localised in nerves invading the fetal bladder, have been defined. Finally, we review emerging evidence that bladder exstrophy may have genetic bases, including variants in the TP63 promoter. These genetic discoveries provide a new perspective on a group of otherwise poorly understood diseases.

[Lazy bladder syndrome: review of 126 cases]. / Mégavessie congénitale: analyse clinique et urodynamique de 126 cas.

PURPOSE: The lazy bladder syndrome (LBS) is characterized by an infrequent voiding, a large bladder capacity without neurological or urological disorders. In spite of being relatively common, there is little literature about it. The aim of our study was to compare the clinical features and urodynamic findings in asymptomatic or symptomatic patients with lazy bladder syndrome. PATIENTS AND METHODS: We reviewed the charts of 126 adult patients diagnosed with lazy bladder syndrome. Clinical and radiological features, urodynamic findings and therapeutic management were evaluated. With these data, we divided patients into 2 groups: asymptomatic and symptomatic patients. After, we performed a comparative analysis of the data. RESULTS: The incident of LBS was significantly higher in women (81%). Twenty-one patients were asymptomatic (17%), 105 patients were symptomatic (83%). The patients with symptomatic LBS were significantly older (54.3 years ± 14.7). Voiding dysfunction (53%) and urinary retention (27%) were the most common symptoms in symptomatic group. In the uroflowmetry test, maximum and mean uroflow were significantly higher in asymptomatic group (P=0.0074). Reduced bladder sensation revealed no difference in the 2 groups, but in the symptomatic group, detrusor has also a poor contractility (P=0.0001). Nineteen patients (18%) had uro-nephrological complications. CONCLUSION: LBS is certainly underestimated. Voiding dysfunction, urinary retention in infrequent voiders or uro-nephrological complication (urinary tract infection with fever, ureteral reflux…) should recall LBS diagnosis. The hypothesis of bladder structural failure or autonomic nervous system dysfunction may be discussed (suggested). LEVEL OF EVIDENCE: 5.

Adult care of children from pediatric urology.

PURPOSE: In this article we highlight the difference, from established adult urology, in required approach to the care of adolescents and young adults presenting with the long-term consequences of the major congenital anomalies of the genitourinary tract. We review some abnormalities of the kidneys, progressive renal failure and disorders of bladder function from which general conclusions can be drawn. MATERIALS AND METHODS: The published literature was reviewed and augmented with material from our institutional databases. For renal function the CAKUT (congenital abnormalities of the kidney and urinary tract) database at University College London Hospitals was used, which includes 101 young adult patients with CAKUT in whom the urinary tract has not been diverted or augmented. For bladder function some data are from patient records at Boston Children's Hospital. RESULTS: Adolescents who grow up with the burden of a major congenital anomaly have an overwhelming desire to be normal. Many achieve high levels of education and occupy a wide range of employment scenarios. Babies born with damaged kidneys will usually experience improvement in renal function in the first 3 years of life. Approximately 50% of these cases will remain stable until puberty, after which half of them will experience deterioration. Any urologist who treats such patients needs to test for proteinuria as this is a significant indicator of such deterioration. In its absence, the urologist must have a reasonable strategy for seeking a urological cause. The most effective management for nephrological renal deterioration is with angiotensin converting enzyme inhibitors, which slow but do not prevent end stage renal failure. Renal deterioration is generally slower in these patients than in those with other forms of progressive renal disease. The bladder is damaged by obstruction or by functional abnormalities such as myelomeningocele. Every effort should be made to stabilize or reconstruct the bladder in childhood. A dysfunctional bladder is associated with or causes renal damage in utero, but continued dysfunction will cause further renal damage. Bladder function often changes in puberty, especially in boys with posterior urethral valves who may experience high pressure chronic retention. Dysfunction is managed with antimuscarinic drugs, clean intermittent self-catheterization and intestinal augmentation. Adult urologists must be able to manage the long-term problems associated with these treatments. CONCLUSIONS: Pediatric conditions requiring management in adolescence are rare but have major, lifelong implications. Their management requires a broad knowledge of pediatric and adult urology, and could well be a specialty in its own right. Therefore, adult urologists must remain aware of the conditions, the problems that they may encounter and the special management required for these patients to live normal lives.

Congenital bladder diverticulum causing acute urinary retention in an infant.

Congenital bladder diverticula (CBD) are unusual but not rare in childhood. Report of acute urinary retention due to congenital bladder diverticula are rarely found in the literature. Here we report a case of congenital bladder diverticulum with acute urinary retention in a ten months old male infant. Urinary tract infection and urinary retention are the most frequent presentation forms. In this case CBD produce urinary obstruction as a result of compression of the urethra which causes urinary retention. Voiding cystourethrogram revealed a large bladder diverticulum. Bladder diverticulum should be a differential diagnosis in male children, presenting with urinary retention, fever and an abdominal mass. Ultrasonography, voiding cystourethrogram & cystoscopy confirm the diagnosis and diverticulectomy was successfully done for the child.

Hutch bladder diverticula: a very uncommon entity in adults.

OBJECTIVE: We present the case of an adult patient diagnosed with Hutch diverticula after examination. Indications were of a type of congenital bladder diverticula very rare in children and unusual in adults, as very few cases in adults are addressed in the literature. METHODS: Intravenous Urography and Voiding Cystourethrogram (VCUG) were realized RESULTS: The intravenous urography revealed ureterohydronephrosis in the excretory phase that did not have repletion defects suggesting lithiasis at distal urethra. On the other hand, a narrowing of the urethra was observed at the point of bladder entry due to the presence of a juxtameatal bladder diverticulum. Next a retrograde cystography was performed which ruled out vesicourethral reflux and revealed that the diverticulum presented elevated residuals after urination. As a result of our patient's clinical characteristics and the absence of vesico-urethral reflux, we decided to perform an endoscopic surgical opening of the diverticula's neck. CONCLUSIONS Hutch paraurethral diverticula is an very uncommon entity, even in infancy. The Voiding Cystourethrogram (VCUG) is especially useful in diagnosing these patients. In symptomatic cases surgical correction of the diverticula is required.

Congenital Bladder Prolapse Through a Patent Urachus: Two Institutions' Experience.

We describe our experience in 2 institutions handling bladder prolapse through a patent urachus (PU), together with a brief review of published literature. Case 1: A term neonate with congenital prolapsed bladder via PU. Ultrasound at 21 weeks gestation revealed a male fetus with a large midline pelvic cyst communicating with the bladder which disappeared on subsequent 27 weeks ultrasound. Case 2: A term female neonate with congenital prolapsed bladder via PU with no prenatal diagnosis. In both cases the bladder closure was undertaken during the newborns' first days of life.

[Case of congenital bladder diverticulum--cause of urinary retention in adulthood].

A 24-year-old man was referred to our department for urinary retention and urinary tract infection. He was pointed out a bladder diverticulum in childhood. Computerized tomography (CT) scanning and magnetic resonance imaging (MRI) showed a bladder diverticulum, 10 by 8 cm in size, which was located posteriorly in the bladder. He underwent resection of the bladder diverticulum and left ureterovesiconeostomy. The histopathologic finding showed a bladder wall with thin muscular layer. The operation made urination possible with successful resolution of voiding symptoms. Herein we report this rare case of congenital bladder diverticulum which was treated in adulthood, and present a review the literature.

[Megacystis in a fetus--description of 3 clinical cases]. / Pecherz moczowy olbrzymi u plodu--opis 3 przypadków.

3 cases of fetal megacystis have been described in the article. In each clinical situation the pathology was diagnosed in the first half of the pregnancy. The authors have attempted to present clinical management in congenital megacystis. Key elements in the further diagnostics of megacystis in a fetus include invasive procedures to exclude or confirm chromosomal aberrations in fetus and detailed ultrasound anatomy scan of the fetus. The possibility of prenatal treatment of megacystis (placement of vesico-amaniotic shunt) is the source of considerable controversy. Biochemical assessment of fetal kidney function seems to be the most important element in evaluation of patients before introducing the intrauterine therapy. Contraindication for the prenatal treatment may be not only fetal aneuploidy but also serious maternal pregnancy complications, such as severe preeclampsia accompanied by deterioration of renal function and increasing ascites. The decision to place the shunt in a fetus should be made bearing in mind that although it significantly reduces the risk of perinatal death, it may unfortunately fail to improve renal function of the affected child.

Prenatal diagnosis and postnatal outcome of fetal spinal defects without Arnold-Chiari II malformation.

OBJECTIVE: To determine the prenatal evolution/natural history and postnatal outcome of fetuses diagnosed with a neural tube defect (NTD) lacking the Arnold-Chiari-II malformation (ACM II). MATERIAL AND METHODS: This retrospective study reviewed 16 fetuses evaluated with ultrasound (US) and MRI at a single referral center from 1/2000 to 8/2007. Follow-up studies and available postnatal outcomes were reviewed. RESULTS: Postpartum diagnosis was terminal myelocystoceles 7/16 (44%); myelomeningoceles (MMCs) 3/16 (19%); lipomyelomeningoceles 2/16(13%); and thoracic myelocystocele 1/16 (6%). Three patients (19%) were lost to follow-up or termination of pregnancy. Two prenatally diagnosed 'closed' NTD were postnatally found to be MMCs. Three of the myelocystoceles had additional omphalocele, bladder extrophy, imperforate anus and spinal defect (OEIS complex). For the total cohort, impaired lower extremity function was seen in 38%, impaired bladder function in 64%, and ventriculoperitoneal shunting in 8%. Four fetuses with a myelocystocele developed hindbrain herniation in the third trimester of pregnancy. The preterm delivery rate was 38%. Five of eight (63%) neonates with postnatally diagnosed myelocystoceles had mothers with a body mass index over 30. CONCLUSION: Prenatal differentiation between closed and open NTD is not always possible. Postnatal outcome of isolated myelocystocele and MMC seems to be more favorable than for an NTD with ACM II (shunt requirement). Incontinence is the major childhood morbidity. Maternal obesity may be a risk factor for closed NTDs.

Lower urinary tract obstruction secondary to congenital bladder diverticula in infants.

PURPOSE: Congenital primary bladder diverticulum is a rare condition and may present with urinary infection; other forms of presentation are rare. We present a series of infants who presented with urinary retention secondary to large primary bladder diverticulum. METHODS: Seven infants were evaluated for symptoms of lower urinary tract obstruction. All seven were infant boys; three were neonates. Investigations included ultrasonogram, voiding cystourethrogram (VCUG) and cystoscopy. RESULTS: Six infants had single large diverticulum while one had bilateral diverticula. VCUG was diagnostic in all cases demonstrating the mechanism of obstruction clearly except one where bilateral diverticula was diagnosed only on cystoscopy prior to definitive surgery. Five children (including one neonate) underwent successful definitive repair consisting of diverticulectomy and ureteral re-implant while two neonates were planned for a staged correction. One neonate later in the series underwent definitive primary repair as bladder was good sized. All five children have done well after definitive repair at a follow-up of 6-72 months. CONCLUSION: Primary bladder diverticulum in infants may present with lower urinary obstructive symptoms indistinguishable from posterior urethral valves. A carefully done VCUG can help in diagnosis. Primary definitive repair can be undertaken even in first few months of life with good results.

Demonstration of a congenital urine bladder diverticulum by 99mTc-MDP SPET/CT scan in a female with bone metastases.

Urine bladder diverticula are usually asymptomatic, therefore they are incidentally diagnosed during examinations for other purposes. A Chinese patient, with a history of pulmonary adenocarcinoma first underwent a technetium-99m methylene diphosphonate whole-body bone scan. In addition to multiple skeletal metastases, abnormal shape of the urine bladder was also noted, which overlapped the superior ramus of the right pubic bone. In order to: a) better delineate the shape and structure of the urine bladder; b) visualize the pubic bone and c) detect the exact location and structural changes of skeletal lesions in the lumbosacral region, single photon emission tomography/computerized tomography (SPET/CT) scan of this region was performed immediately, and demonstrated: a) a big urine bladder diverticulum in the right hemipelvis; b) structural changes of skeletal metastases while metastases in the pubic bone were ruled out. An overview of the etiology, histopathology, complications, management and imaging of urine bladder diverticulum is also presented. We consider our case the first to be diagnosed by SPET/CT and differentiated from metastases of the overlapping bone in a 69 years old female.

Identification of key microRNAs, transcription factors and genes associated with congenital obstructive nephropathy in a mouse model of megabladder.

OBJECTIVE: The present study aimed to investigate the molecular mechanism underlying congenital obstructive nephropathy (CON). METHODS: The microarray dataset GSE70879 was downloaded from the Gene Expression Omnibus, including 3 kidney samples of megabladder mice and 4 control kidneys. Using this dataset, differentially expressed miRNAs (DEMs) were identified between the kidney samples from megabladder mice and controls, followed by identification of the target genes for these DEMs and construction of a DEM and target gene interaction network. Additionally, the target genes were subjected to Gene Ontology and pathway enrichment analyses, and were used for construction of a protein-protein interaction (PPI) network. Finally, regulatory networks were constructed to analyze transcription factors for the key miRNAs. RESULTS: From 17 DEMs identified between kidney samples of megabladder mice and controls, 3 key miRNAs were screened, including mmu-miR-150-5p, mmu-miR-374b-5p and mmu-miR-126a-5p. The regulatory networks identified vascular endothelial growth factor A (Vegfa) as the common target gene of mmu-miR-150-5p and five transcription factors, including nuclear receptor subfamily 4, group A, member 2 (Nr4a2), Jun dimerisation protein 2 (Jdp2), Kruppel-like factor 6 (Klf6), Neurexophilin-3 (Nxph3) and RNA binding motif protein 17 (Rbm17). The gene encoding phosphatase and tensin homolog (Pten) was found to be co-regulated by mmu-miR-374b-5p and high mobility group protein A1 (Hmga1), whereas the kirsten rat sarcoma viral oncogene (Kras) was identified as a common target gene of mmu-miR-126a-5p and paired box 6 (Pax6). CONCLUSIONS: In summary, the above-listed key miRNAs, transcription factors and key genes may be involved in the development of CON.

Bladder augmentation in anuric/defunctioned microbladders and a novel antireflux mechanism for Mitrofanoff anastomosis to the ileal patch.

BACKGROUND/PURPOSE: Reconstruction of microbladders is a difficult surgical challenge: How can a neobladder be recreated when >90% of the new bladder is augmented patch, and how can a Mitrofanoff conduit be anastomosed when the native bladder is so tiny? This series describes microbladders secondary to anuria and/or diversion that required augmentation. This was done using a de-tubularized ileal segment, and because of the small size of the native bladder, Mitrofanoff anastomosis was performed to the bowel patch (using a novel "Keel Procedure"). METHODS: Our surgical experience in reconstruction of microbladders was reviewed: pre and post augmentation capacity, compliance and maximum detrusor pressure were compared. The success of the Mitrofanoff anti-reflux technique is described. Data are given as median (interquartile range) and compared by Wilcoxon paired rank test. RESULTS: 10 patients, median bladder capacity pre-op 10 (9-20) mls were reconstructed. The follow up time is 2.7years (2.2-4.2). Post-op bladder capacity increased 16-fold to 167 (114-281) mls, P<0.01. Compliance significantly improved from 1.7 (0.3-4.8) to 14.3 (4.1-66.3) mls/cmH2O, P<0.05. Maximum detrusor over-activity decreased from 27 (7-120) to 12.5 (8-26) cmH2O, (N.S. P=0.3). Videourodynamics confirmed a leak in 2 patients, leading to incorporation into the technique of a non-absorbable seromuscular suture to provide long-term robustness to the antireflux procedure. CONCLUSION: Bladder augmentation in microbladders is possible, and a functional Mitrofanoff procedure with a continent anti-reflux procedure can be created using the "Birmingham keel technique" implanting the Mitrofanoff into the augment patch, with 80% success (similar to published results for conventional anastomosis to native bladders). LEVEL OF EVIDENCE: Level IV.

Bilateral renal agenesis in an alpaca cria.

A 3-day-old male alpaca cria was presented for lack of vigor and failure to urinate since birth. Based on the history, laboratory data, ultrasonographs, surgical findings, and postmortem examination, the cria was diagnosed with bilateral renal agenesis and hypoplastic bladder, a congenital condition rarely seen in veterinary medicine.

[Acute retention of urine secondary to a congenital diverticulum of the bladder]. / Rétention aiguë d'urine secondaire à un diverticule congénital bilatéral de la vessie.

Bladder diverticula in children are mostly congenital, frequently associated with vesicoureteral reflux. Their positive diagnosis is based primarily on retrograde urethrocystography. One complication of this condition is acute urinary retention. We report the case of a 4-month-old infant who presented acute retention of urine secondary to bilateral congenital bladder diverticulum and review the literature on this subject.