Spinal dysraphism in exstrophy: a single-center study of a 39-year prospective database.

OBJECTIVE: The two main objectives of this study were to explore the rate of spinal dysraphism within bladder and cloacal exstrophy and to analyze the relationship between spinal dysraphism surgery, including timing of spinal dysraphism surgery, with urological and neurological outcomes. METHODS: A prospectively maintained IRB-approved database of pediatric exstrophy patients treated from 1982 to 2021 was retrospectively reviewed for patients with spinal dysraphism. Spinal dysraphism was categorized into the following 7 subtypes: lipoma-based closed defect, myelomeningocele, meningocele, diastematomyelia, myelocystocele, low-lying conus with tethered cord/fatty filum, and sacral bony defect. Other factors assessed included patient demographic characteristics, type of spinal dysraphism procedure, reoperation, complication, presence of other neurological problems (e.g., hydrocephalus, Chiari malformation), neurological status, and urological function. RESULTS: Analysis revealed that 114/1401 patients had coexisting spinal dysraphism. Of these 114, sufficient records including type of dysraphism were available for 54. Spinal dysraphism was most common within cloacal exstrophy (83.3% [45/54 patients]), followed by cloacal exstrophy variants (9.3% [5/54]), classic bladder exstrophy (3.7% [2/54]), and classic bladder exstrophy variants (3.7% [2/54]). Within spinal dysraphism, lipoma-based closed defects (63.0% [34/54]) and low-lying conus with tethered cord/fatty filum (11.1% [6/54]) were most common. Hydrocephalus and Chiari malformation occurred in 24.1% (13/54) and 11.1% (6/54) of patients. All 13 patients with hydrocephalus underwent shunt placement. Among those who underwent neurosurgical intervention, the complication rate for spinal dysraphism was 14.6% (7/48). Motor function data were available for 41 patients and revealed that motor function declined for 2/41 (4.8%) patients and improved for 6/41 (14.6%) after neurosurgery. There was no statistical difference in lower-extremity motor outcome related to timing of neurosurgery and exstrophy closure. CONCLUSIONS: The authors have reported the surgical management and outcomes of patients with exstrophy and coexisting spinal dysraphism (n = 54). In 54 patients, spinal dysraphism was most common in the subset of patients with cloacal exstrophy (83.3%). Lipoma-based closed defects (63.0%) and low-lying conus with tethered cord/fatty filum (11.1%) were the most common, and the rates of hydrocephalus and Chiari malformation were 24.1% and 11.1%, respectively. There was no difference in lower-extremity motor outcome related to timing of neurosurgery and exstrophy closure.

Prevalence of opioid and benzodiazepine use in adult patients with the exstrophy-epispadias complex.

INTRODUCTION: Bladder exstrophy (BE), cloacal exstrophy (CE), and epispadias (E) are variants of the exstrophy-epispadias complex (EEC). These children require opioids and benzodiazepines to achieve pain management and immobilization for a lifetime of surgeries. It is hypothesized that these children would be sensitized to opiates and benzodiazepines as adults. The objective was to identify incidence of opiate and benzodiazepine use in adult EEC patients. METHODS: A US Health network, TriNetX Diamond was queried from 2009 to 2022. Incidence of prescriptions for benzodiazepines and opioids were calculated for adults aged 18-60 years with a diagnosis of BE, CE, or E. RESULTS: A total of 2627 patients were identified: 337 with CE, 1854 patients with BE, and 436 with E. Of these, 55.5% of CE, 56.4% of BE, and 41.1% of E had received any opioid prescription. Non-EEC controls had lower rates of opioids at 0.3%. E had a lower likelihood than BE or CE of receiving opioids (p < 0.0001, p < 0.0001). Benzodiazepines were prescribed in 30.3% of CE, 24.4% of BE, 18.3% of E, and 0.1% of controls. CE had a higher likelihood of benzodiazepines than both BE and E (p = 0.022, p < 0.001, respectively). E group had the lowest likelihood of benzodiazepine prescription (p = 0.007 when compared to BE) and all groups were significantly higher than controls (p < 0.0001 for all comparisons). For BE, females were more likely to be prescribed opioids (p = 0.039) and benzodiazepines (p = 0.027) than males. Sub-analyses revealed BE females had higher rates of surgical procedures (general, cardiac, gastrointestinal, and maternity) and chronic diagnoses (generalized anxiety disorder, major depressive disorder, chronic pain) compared to males with BE. Older age was associated with higher likelihood of opioid or benzodiazepine prescriptions in BE (p < 0.001), CE (p = 0.004), and E (p = 0.002). DISCUSSION: Across the EEC, adult patients with the most severe anomalies of CE were more likely to have received opioids and benzodiazepines. Females with BE were prescribed more opioid and benzodiazepines than males with BE. Mirroring the US population, female sex and increasing age were associated with higher rates of prescriptions, chronic diagnoses, and surgical procedures. Limitations include the lack of granular data and ability to correlate results with childhood surgeries. CONCLUSION: Adult EEC patients have higher rates of opioid and benzodiazepine prescriptions, with a high percentage of co-prescribing when compared to healthy controls. Across the spectrum, those with more severe anomalies, female sex, and increasing age were more likely to have received prescriptions.

[Management Of Blader Exstrophy In Children At The CHU Gabriel Touré]. / Prise En Charge De l'Exstrophie Vesicale Dans Le Service De Chirurgie Pediatrique : CHU Gabriel Toure.

AIMS: To describe the clinical and evolutionary aspects of the primary closure of exstrophy at the CHU Gabriel Touré. MATERIALS AND METHODS: This was a retrospective and prospective study carried out from January 2014 to December 2019 in all the children admitted and operated on for bladder exstrophy at the CHU Gabriel Touré. RESULTS: We collected 35 cases of exstrophy, ie25 boys and 10 girls. The mean age at diagnosis was 4.8 months. The bladder plate was both normal and budded, ie 28.6% of cases. Plaque infection was found in 45.7%. A malformation was associated in 34.3% of cases. Primary plaque closure was achieved in all of our patients. Postoperative morbidity was 28.6% of cases and mortality 11.4% of cases. CONCLUSION: Bladder exstrophy is a rare malformation of the urogenital sphere, its management is complex and its mortality is not null.

OBJECTIFS: Décrire les aspects cliniques et évolutifs de la fermeture primaire de l'exstrophie au CHU Gabriel Touré. MATÉRIELS ET MÉTHODES: Il s'agissait d'une étude rétrospective et prospective réalisée de janvier 2014 à décembre 2019 chez tous les enfants admis et opérés pour exstrophie vésicale au CHU Gabriel Touré. RÉSULTATS: Nous avons colligés 35 cas d'exstrophie soit 25 garçons et 10 filles. L'âge moyen au moment du diagnostic était de 4,8 mois. La plaque vésicale était au tant normale que bourgeonnée soit 28,6 % des cas. Une infection de la plaque a été retrouvée dans 45,7%. Une malformation était associée dans 34,3% des cas. La fermeture primaire de la plaque a été réalisée chez tous nos patients. La morbidité post opératoire était de 28,6% des cas et la mortalité, 11,4% des cas. CONCLUSION: L'exstrophie vésicale est une malformation rare de la sphère urogénitale, sa prise en charge est complexe et sa mortalité n'est pas nulle.

Long-term active problems in patients with cloacal exstrophy: A systematic review.

BACKGROUND: Cloacal exstrophy (CE) is the most severe end of the Exstrophy-Epispadias Complex malformations spectrum. Improvements in postnatal management and well-established operative techniques have resulted in survival rates approaching 100%. This systematic review aims to define the prevalence of long-term active medical problems affecting CE patients after the first decade of life. METHODS: PubMed/Medline, Embase, Scopus, and ISI Web of Knowledge databases were used for the literature search. Original articles related to medical, surgical, and psychosocial long-term problems in CE patients >10 years of age were included in the study. Quality assessment of the articles was performed through the Newcastle-Ottawa Scale. Prevalence estimates and 95% CI were assessed for each outcome. RESULTS: Twelve studies were included. The most common long-term active problems identified were: urinary incontinence with a prevalence ranging from 9.1% to 85%; sexual function issues related to vaginal anomalies with a prevalence ranging from 8.3% to 71.3%, and uterine anomalies, with a prevalence from 14.3% to 71%; gender identity issues in 46, XY patients raised female had a prevalence from 11.1% to 66.7%. There is no documented history of paternity. Impairment of ambulatory capacity was recorded in 13.8% of patients. Only one paper studied psychological well-being, reporting significantly higher levels of depression among gender reassigned patients. CONCLUSIONS: Teenagers and adults born with CE have well defined long-term problems compared to the general population. Recognition and expert management are crucial to improve care and quality of life during and after the transition into adulthood.

Timing of inguinal hernia following complete primary repair of bladder exstrophy.

INTRODUCTION/BACKGROUND: Bladder exstrophy patients have a high prevalence of inguinal hernia that often become clinically evident following bladder closure. Understanding when the bladder exstrophy patient is under greatest risk of developing an inguinal hernia following bladder closure is important, since incarceration resulting in strangulation of intra-abdominal contents can lead to significant morbidity if not addressed in a timely fashion. Although the incidence and risk factors of inguinal hernia have been reported, the timing of occurrence is not well understood. OBJECTIVE: The primary objective of this study was to assess the timing of inguinal hernia following complete primary repair of bladder exstrophy (CPRE). In addition, we aimed to evaluate possible risk factors associated with inguinal hernia, including sex, age at bladder closure and iliac osteotomy status. STUDY DESIGN: A multi-institutional retrospective review identified patients with bladder exstrophy repaired by CPRE under 6 months of age while excluding those who underwent inguinal hernia repair before or during bladder closure. Timing of inguinal hernia following bladder closure was evaluated using Kaplan-Meier methods. Cox proportional hazards model was used to investigate association of sex, age at bladder closure, and osteotomy on the risk of developing of inguinal hernia while clustering for institution. RESULTS: 91 subjects were included in our analysis with median follow-up time of 6.5 years. 34 of 53 males (64.2%) and 2 of 38 females (5.3%) underwent inguinal hernia repair. The median time to inguinal hernia was 4.7 months following closure. The greatest hazard of inguinal hernia was within the first six months following closure. In multivariate analysis, male sex was strongly associated with inguinal hernia (HR = 19.00, p = 0.0038). Osteotomy and delay in closure were not significantly associated with inguinal hernia. 7 of 36 patients (19.4%) who underwent inguinal hernia repair presented with recurrence on the ipsilateral side. DISCUSSION: Our results suggest that the greatest risk of inguinal hernia is within the first six months following bladder closure. The decreased risk of inguinal hernia after one year of follow-up may reflect anatomic stability that is reached following major reconstruction of the pelvis. While male bladder exstrophy patients are significantly more susceptible to inguinal hernias following CPRE, osteotomy and delayed bladder closure do not appear to be protective factors for inguinal hernia development following initial bladder closure. CONCLUSIONS: There is a heightened risk of inguinal hernia in the first six months following closure. The rate of recurrence following inguinal hernia repair is significantly elevated compared to the general pediatric population.

Inequalities in healthcare access: how a man with exstrophy in rural India coped.

We report a case of a 22-year-old man with adult exstrophy. The patient made a self-made urine collection device, which helped him to lead a normal life, carrying out his routine as well as occupational activities smoothly. This patient is a prime example of inequalities in healthcare distribution in low-income and middle-income countries. He was never taken to a proper medical centre to correct his condition nor was his mother ever given proper antenatal healthcare access. His background of being a poor person from rural India highlights the problems of inequalities in healthcare access.

Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study.

Cloacal exstrophy (CE) and persistent cloaca (PC) (alternatively termed urorectal septum malformation sequence [URSMS]), represent two major cloacal defects (CDs). Clinical characteristics and risk factors often are studied for both defects combined, rather than exploring if these defects have different etiologies. We enumerated clinical features for 47 CE and 54 PC (inclusive of URSMS) cases from the National Birth Defects Prevention Study. Thirty-three CE cases were classified as isolated and 14 as multiple (presence of unassociated major defects); respective totals for PC cases were 26 and 28. We compared selected child and maternal characteristics between 11,829 non-malformed controls and CE and PC cases using chi-square or Fisher's exact tests. Compared to controls, CE and PC cases were statistically more likely (p < 0.05) to be preterm; CE cases were more likely to be multiple births. We conducted logistic regression analysis to estimate odds ratios and 95% confidence intervals for any CD, CE, and PC with selected self-reported maternal prepregnancy and periconceptional (one month prior to 3 months following conception) exposures. In crude and adjusted analyses, we observed significant positive associations for any CD, CE, and PC with use of any fertility medication or assisted reproductive technology procedure. Significant positive associations observed only in crude analyses were any CD with maternal obesity or use of progesterone, any CD and CE with any x-ray, and any CD and PC with use of folate antagonist medications. Our findings provide some of the first insights into potential differing etiologies for CE and PC.

Long-term sexual health outcomes in men with classic bladder exstrophy.

OBJECTIVES: To identify the long-term sexual health outcomes and relationships in men born with classic bladder exstrophy (CBE). MATERIALS AND METHODS: A prospectively maintained institutional database comprising 1248 patients with exstrophy-epispadias was used. Men aged ≥18 years with CBE were included in the study. A 42-question survey was designed using a combination of demographic information and previously validated questionnaires. RESULTS: A total of 215 men met the inclusion criteria, of whom 113 (53%) completed the questionnaire. The mean age of the respondents was 32 years. Ninety-six (85%) of the respondents had been sexually active in their lifetime, and 66 of these (58%) were moderately to very satisfied with their sex life. The average Sexual Health Inventory for Men score was 19.8. All aspects of assessment using the Penile Perception Score questionnaire were on average between 'very dissatisfied' and 'satisfied'. Thirty-two respondents (28%) had attempted to conceive with their partner. Twenty-three (20%) were successful in conceiving, while 31 (27%) reported a confirmed fertility problem. A total of 31 respondents (27%) reported undergoing a semen analysis or post-ejaculatory urine analysis. Of these, only four respondents reported azoospermia. CONCLUSION: Patients with CBE have many of the same sexual and relationship successes and concerns as the general population. This is invaluable information to give to both the parents of boys with CBE, and to the boys themselves as they transition to adulthood.

The current profile of persistent cloaca and cloacal exstrophy in Japan: the results of a nationwide survey in 2014 and a review of the literature.

PURPOSE: The current profile of persistent cloaca (PC) and cloacal exstrophy (CE) in Japan was first examined in 2014. MATERIALS AND METHODS: Information was obtained by sending a questionnaire to 244 university hospitals and children's hospitals. RESULTS: Responses from 113 institutions reported 466 PC cases and 229 CE cases. The incidences of PC and CE from 1980 to 2012 were 0.97 and 0.49 per 100,000 live births, respectively. In the previous 5 years, antenatal abnormalities were found in 57.6% of PC and 72.7% of CE patients. Myelomeningocele was observed in 45.6% of CE patients. As a result of various surgical treatments used in the neonatal and infantile periods, the respective rates of bladder dysfunction, clean intermittent catheterization, and permanent enterostomy were 32.6, 22.5, and 7.3% in PC patients and 60.7, 28.4, and 73.8% in CE patients. Menstrual outflow obstruction was found in 22.5% of PC and 48.9% of CE patients with menstruation. CONCLUSION: The clinical outcomes of PC and CE remain unsatisfactory. Therefore, the establishment of treatment guidelines might be a useful objective for improving the current status of PC and CE.

Maternal and fetal risk factors for bladder exstrophy: A nationwide Swedish case-control study.

INTRODUCTION: Bladder exstrophy is a rare, congenital, complex malformation where the underlying cause is largely unknown. Both environmental and genetic mechanisms are thought to be involved. There are divergent results concerning the prevalence, birth descriptive data, and potential maternal risk factors for bladder exstrophy. Few previous studies have reflected nationwide populations, population registers, or spanned a longer period of time. OBJECTIVE: To describe and assess bladder exstrophy and the potential maternal risk factors, for a time period of four decades, by conducting a nationwide register study of bladder exstrophy in Sweden. METHODS: A matched-design, case-control, linkage-analysis study nested within the entire pool of live births in Sweden between 1973 and 2011 was performed. Cases with bladder exstrophy were identified using nationwide population-based birth and health registers. Inclusion criteria were people born in Sweden with the classification of bladder exstrophy according to the ICD coding system. Cases were matched with five controls per patient, based on birth year and sex. Prevalence was assessed and birth descriptive data were compiled. Potential maternal risk factors were obtained from medical birth registers of cases and assessed using conditional and multivariate logistic regression models to obtain odds ratios as a measure of the relative risk. Classification of the diagnosis in the registers constituted a possible limitation for determining the correct study population, which demanded strict validation and inclusion criteria. All data were collected prospectively, thereby avoiding potential recall bias. RESULTS: The prevalence was calculated to be approximately 3 per 100,000 live births, with a male-to-female ratio of 1.14:1. In 92.5% of the cases, bladder exstrophy was an isolated malformation without associated major malformations. However, 41% had had surgery for congenital inguinal hernia and 11% of the male subjects had been operated on for cryptorchidism. A significantly higher proportion of cases had a birth weight <1500 g compared with controls, but other characteristics were comparable with controls. High maternal age was the only significant potential associated maternal risk factor. CONCLUSIONS: One hundred and twenty children born with bladder exstrophy in Sweden during the last four decades were identified; this resulted in prevalence in Sweden of 3 per 100,000. The prevalence was stable over time and the sex ratio was equal. Birth characteristics were comparable to controls, and bladder exstrophy generally occurred as an isolated malformation without major associated malformations. Advanced maternal age was the only significant potential maternal risk factor.

Congenital renal anomalies in cloacal exstrophy: Is there a difference?

INTRODUCTION: Cloacal exstrophy (CE) is the most severe manifestation of the epispadias-exstrophy spectrum. Previous studies have indicated an increased rate of renal anomalies in children with classic bladder exstrophy (CBE). Given the increased severity of the CE defect, it was hypothesized that there would be an even greater incidence among these children. OBJECTIVE: The primary objective was to characterize renal anatomy in CE patients. Two secondary objectives were to compare these renal anatomic findings in male and female patients, and female patients with and without Müllerian anomalies. STUDY DESIGN: An Institutional Review Board-approved retrospective review of 75 patients from an institutional exstrophy database. Data points included: age at analysis, sex, and renal and Müllerian anatomy. Abnormal renal anatomy was defined as a solitary kidney, malrotation, renal ectopia, congenital cysts, duplication, and/or proven obstruction. Abnormal Müllerian anatomy was defined as uterine or vaginal duplication, obstruction, and/or absence. RESULTS: The Summary Table presents demographic data and renal anomalies. Males were more likely to have renal anomalies. Müllerian anomalies were present in 65.7% of female patients. Girls with abnormal Müllerian anatomy were 10 times more likely to have renal anomalies than those with normal Müllerian anatomy (95% CI 1.1-91.4, P = 0.027). DISCUSSION: Patients with CE had a much higher rate of renal anomalies than that reported for CBE. Males and females with Müllerian anomalies were at greater risk than females with normal uterine structures. Mesonephric and Müllerian duct interaction is required for uterine structures to develop normally. It has been proposed that women with both Müllerian and renal anomalies be classified separately from other uterine malformations on an embryonic basis. In these patients, an absent or dysfunctional mesonephric duct has been implicated as potentially causal. This provided an embryonic explanation for uterine anomalies in female CE patients. There were also clinical implications. Women with renal agenesis and uterine anomalies were more likely to have endometriosis than those with isolated uterine anomalies, but were also more likely to have successful pregnancies. Males may have had an analogous condition with renal agenesis and seminal vesicle cysts. Future research into long-term kidney function in this population, uterine function, and possible male sexual duct malformation is warranted. CONCLUSION: Congenital renal anomalies occurred frequently in children with CE. They were more common in boys than in girls. Girls with abnormal Müllerian anatomy were more likely to have anomalous renal development. Mesonephric duct dysfunction may be embyologically responsible for both renal and Müllerian maldevelopment.

PATTERN AND OUTCOME OF RENAL DISEASES IN HOSPITALIZED CHILDREN IN TIKUR ANBESSA SPECIALIZED TEACHING HOSPITAL, ADDIS ABABA, ETHIOPIA.

Background: Renal diseases are major causes of morbidity and mortality in pediatric practice. Pediatric patients with renal disease, especially younger ones may present with nonspecific signs and symptoms unrelated to the urinary tract. Unexplained fever or failure to thrive may be the only manifestation. Most children with renal diseases in our hospital arrive very late either because of inadequate health awareness among the parents or failure of recognizing the symptoms of renal diseases at a lower health care level. This review will highlight the symptoms of renal diseases at presentation and outcomes of treatment in children in a major referral hospital. Methods: A cross-sectional retrospective chart review was done over a period of 3 years (June, 2012 to May, 2015) in 381 admitted children (Birth-17 years) at Tikur Anbessa Specialized Teaching Hospital in Addis Ababa, Ethiopia. Results: Out of 14521 pediatric ward admissions in the study period, kidney diseases accounted for 473 admissions in 381 children, accounting for 3.3% of all admissions. The three most common renal diseases observed were congenital anomalies of the kidney and urinary tract (CAKUT) seen in 127 children (26.8%), followed by nephrotic syndrome in 80 children 16.9% and acute glomerulonephritis in 58 children (12.2%). Other renal diseases observed were urinary tract infection 8.0%, urolithiasis 6.7%, Wilm's tumor 6.3%, acute kidney injury 4.2% and chronic kidney disease 4.0%. Other less frequently detected diseases were bladder exstrophy, lupus nephritis, Henock shonlein Purpura nephritis and prune-belly syndrome. Out of 381 children 207 (54.3%) recovered normal renal function, 20(5.2%) remained with proteinuria, 13(3.4%) progressed to chronic kidney disease and 11(2.9%) died. Sixty one nephrotic children (76.3%) achieved remission but 17 children (21.3%) remained with proteinuria; one steroid resistant child died of end stage renal disease. Ten children (2.6%) with different renal diseases were lost to follow-up and 5 (1.3%) discharged against medical advice. Conclusions: This data reflects that many of the renal diseases are preventable or potentially curable. Therefore, improvement of pediatric renal services and training of health workers would help in early detection and treatment of these conditions leading to reduction in their morbidity and mortality.

Prospective study on the incidence of bladder/cloacal exstrophy and epispadias in Europe.

OBJECTIVE: On behalf of the European Society of Paediatric Urology (ESPU), a prospective study was designed with the aim of defining the actual number of babies born with bladder exstrophy, cloacal exstrophy, and epispadias in Europe over a 12-month period, and verifying the distribution of the exstrophy patients born during the study period among the different paediatric urology centres in Europe. STUDY DESIGN: The study was structured with a chief investigator and one national investigator for each country enrolled in the study. The national investigators nominated one local investigator for each European centre of paediatric surgery/paediatric urology and urology where the exstrophy complex could potentially be treated. The local investigators were responsible for reporting babies treated in their institutions for bladder/cloacal exstrophy and/or epispadias. During 2010, every 3 months, an electronic survey (Figure) was e-mailed to the local investigators asking them to report babies treated or referred for treatment during the previous 3 months. RESULTS: One-hundred and sixteen centres in 27 European counties were enrolled in the study. The overall response rate for the four online surveys was 79%. Two-hundred and thirty-eight babies were reported to be born with a condition within the bladder exstrophy epispadias complex (BEEC): 71 primary epispadias (66 males), 146 classic bladder exstrophy (97 males) of which two were female bladder exstrophy variant, and 21 cloacal exstrophy (17 males). Two of 67 (3%) male epispadias, 24/146 (16.4%) bladder exstrophy, and 6/21 (28%) cloacal exstrophy were antenatally diagnosed. Associated anomalies were reported in 2/71 (2.8%) epispadias patients, 8/146 (5.5%) bladder exstrophy patients, and 15/21 (71.4%) cloacal exstrophy patients. One-hundred and forty-seven (62%) of the 238 babies born in Europe with a condition within the exstrophy spectrum during 2010 were transferred from other institutions for treatment (36 male epispadias, 97 bladder exstrophy, and 14 cloacal exstrophy). Only 12 centres treated six or more exstrophy and or epispadias patients during the study period; 52 treated between one and five patients, of which 22 treated only one case in 12 months. DISCUSSION: This study provides a contemporary incidence of the BEEC in Europe. It demonstrates also that only a minority (19%) of the European centres involved in the treatment of exstrophy can be considered "high volume" exstrophy centres. CONCLUSION: There is a case for proposing a rationalisation of the treatment of this group of conditions in a small number of exstrophy units around Europe.

Cuidados enfermeros en la extrofia vesical neonatal / Nursing care in neonatal vesical exstrophy

La extrofia vesical (EV) es una alteración congénita poco frecuente que consiste en la protrusión de la vejiga sobre la pared abdominal, lo que requiere una compleja y rápida intervención quirúrgica, muchas veces por un equipo multidisciplinar. Es una enferme-dad rara, se presenta en uno de cada 35.000-40.000 nacimientos y es más frecuente en varones. Aunque su etiología no está muy definida, parece haber una predisposición genética. Se produce por un defecto de la migración de las células del mesénquima infraumbilical que dará lugar a la pared abdominal inferior, los tubérculos genitales y las ramas púbicas. El tratamiento de la EV es quirúrgico y muchas veces en varias etapas. Uno de los problemas de estos pacientes es el control de esfínteres, una vez intervenidos. Los niños sometidos a cirugía reparadora en el momento del nacimiento obtienen mejores resultados en la continencia urinaria, que es uno de los grandes problemas. Los cuidados enferme-ros pre y postquirúrgicos son muy importantes para la recuperación de estos pacientes, ya que permanecerán varios días inmovilizados para lograr el correcto cierre de la vejiga

Vesical Exstrophy (VE) is a rare congenital alteration which consists in the protrusion of the bladder through the abdominal wall, and it requires a complex and fast surgical intervention, often by a multidisciplinary team. This is a rare disease, which appears in one out of 35,000-40,000 newborns, and it is more frequent in males. Even though its etiology is not very well defined, there seems to be a genetic predisposition. It occurs due to a defect of migration in the infraumbilical mesenchyma cells, which will lead to the formation of the lower abdominal wall, genital tubercles and pubic branches. The treatment for VE is surgical, and often in various stages. One of the problems in these patients is sphincter control, once they have undergone surgery. Children who undergo reconstructive surgery at the time of birth will achieve better results regarding urinary incontinence, which is one of the great problems. Nursing care before and after surgery is very important for the recovery of these patients, because they must remain immobile during several days in order to achieve an adequate bladder closure

Congenital bladder exstrophy associated with Duogynon hormonal pregnancy tests-signal for teratogenicity or consumer report bias?

A combination of ethinylestradiol and 10mg norethisterone under the brand names of Duogynon (Germany) or Primodos (UK) was used as a pregnancy test until the 1970s. Until very recently there was continuing public concern about the safety of these drugs and legal proceedings were instituted against the medicinal authorization holder. Given the lack of epidemiological studies focusing on Duogynon/Primodos, the present study evaluates 296 consumer reports of the German Duogynon database and compares the reported birth defects with data from a population based birth registry. The most striking result is an increase of bladder exstrophy (OR=37.27; 95%-CI 14.56-95.28). Neural tube defects (OR=2.99; 95%-CI 1.85-4.84) and renal agenesis (OR=2.53; 95%-CI 1.17-5.45) were also significantly increased. Bladder exstrophy may be a yet undetected teratogenic effect of Duogynon, but may also represent a reporting bias. The present study highlights the difficulties of evaluating consumer reports which may be influenced by public media.

Examining long-term outcomes of bladder exstrophy: a 20-year follow-up.

OBJECTIVE: To examine long-term quality-of-life, urinary continence and sexual function outcomes in patients diagnosed with bladder exstrophy (BE). PATIENTS AND METHODS: A total of 65 patients with BE and follow-up of at least 20 years were identified. After informed consent for inclusion in the study, the patients were asked to complete three validated questionnaires, the Short-Form 36 quality-of-life questionnaire (SF-36), the International Consultation on Incontinence Questionnaire (ICIQ) and the International Index of Erectile Function (IIEF), to assess quality of life, perceived urinary continence and sexual function. RESULTS: In all, 21 patients responded to the questionnaires, yielding a 32% response rate. High scores in each of the eight dimensions of the SF-36 reflected a positive perception of quality of life by respondents; calculated scores were compared with those of a normal control group. The only significant difference found between the groups was that the study population perceived their general health to be poorer than those in the control group. High scores on the ICIQ indicate high levels of subjective incontinence in patients, with scores ranging from 0 to 21. Reporting scores of 0 (continent), 12/21 patients perceived their continence to be normal, 9/21 patients had scores >2 (mild), with one patient scoring a 16, and 11 (severe incontinence), patients reported no identifiable leakage during normal activities. There was a 29% response rate for the IIEF (15 patients completed this). IIEF scores were broken down into five dimensions and mean scores were calculated. The mean scores showed mild to moderate dysfunction in each category, including overall satisfaction with sexual experience. CONCLUSIONS: The patient-reported quality of life in patients with BE was normal in all dimensions, with the exception of perception of general health. Half of the patients reported normal continence and had no complaints of urinary leakage. Sexual function in males was significantly affected across all dimensions, with mild to moderate dysfunction.

Intracranial anomalies and cloacal exstrophy--is there a role for screening?

BACKGROUND/PURPOSE: Cloacal exstrophy (CE) is a severe multi-system congenital defect. While spina bifida is a defining feature of cloacal exstrophy, patients are not routinely screened for intracranial anomalies (ICAs). We sought to better characterize this risk of ICA in the CE patient. METHODS: We retrospectively reviewed the medical records of 81 children with CE treated at our institution, identifying intracranial pathology, including hydrocephalus, Chiari malformation and craniosynostosis. Data points included ICA, neural tube defect, surgical procedures, and ambulatory status. RESULTS: Of the 39 patients with cranial imaging, 31% had an ICA: 6 hydrocephalus, 3 Chiari malformation, 1 craniosynostosis, 1 hydrocephalus and craniosynostosis, and 1 Chiari malformation and craniosynostosis. All patients with ICAs had spina bifida. Patients with ICAs underwent more neurosurgical procedures, including more spinal procedures. Patients with ICAs were much more likely to be wheelchair-bound or ambulate minimally when compared to patients without anomalies. CONCLUSION: In our population of CE patients with available head imaging, 31% had an ICA, thus screening would seem prudent. As all patients with ICAs had spina bifida, it may be less important to screen those rare CE patients without spinal pathology. Patients with ICAs were more likely to be wheelchair-bound, suggesting worse neurologic outcomes.

New insights into the pathogenesis of bladder exstrophy-epispadias complex.

Bladder exstrophy-epispadias complex (BEEC) is a complex and debilitating congenital disease. Familial and twin studies suggest a possible genetic component in BEEC pathogenesis. Bladder mesenchyme (detrusor) development requires induction by a signal from bladder urothelium, and we and others have shown the Shh-Gli-Bmp4 signalling pathway is likely to be involved. P63 is a master regulator in epithelial stratification and is expressed in urothelium. We have shown that p63 knock-out mice undergo excessive urothelial apoptosis. Failure of mesenchymal induction by epithelium leads to BEEC. We further demonstrated that insertion/deletion (in/del) polymorphisms (1 base pair (bp) ins and 4 bp ins., and 12 bp del) in the ΔNP63 promoter reduce transcriptional efficiency, and are associated with a statistically significant increase in the risk of BEEC in humans. Furthermore, a Genome-Wide Expression Profiling (GWEP) study suggests possible involvement of PERP in human BEEC. Intriguingly, PERP is a direct target of p63 during development, and is also involved in epithelial stratification. PERP co-localizes with desmosome, and both PERP and desmosome are essential for maintaining tissue integrity by cellular adhesion and epithelial stratification. A recent study showed that PERP and desmosome expression levels are abnormal in human BEEC patients. This review describes the role of the P63 > PERP > desmosome pathway in the development of human bladder during embryogenesis. We hypothesize that disruption of this pathway may increase the risk of BEEC.

Contemporary epidemiological trends in complex congenital genitourinary anomalies.

PURPOSE: Anecdotal evidence suggests that complex congenital genitourinary anomalies are occurring less frequently. However, few epidemiological studies are available to confirm or refute this suggestion. MATERIALS AND METHODS: The Kids' Inpatient Database (KID) is a national, all payer database of several million inpatient pediatric hospitalizations per year, including complicated and uncomplicated in-hospital births. We reviewed the 1997 to 2009 KID to determine the birth prevalence of spina bifida, posterior urethral valves, bladder exstrophy, epispadias, prune belly syndrome, ambiguous genitalia and imperforate anus. For posterior urethral valves and prune belly syndrome we limited our search to newborn males only. RESULTS: During the study period, there was a diagnosis of spina bifida in 3,413 neonates, bladder exstrophy in 214, epispadias in 1,127, ambiguous genitalia in 726, prune belly syndrome in 180, posterior urethral valves in 578 and imperforate anus in 4,040. We identified no significant change in the birth prevalence of spina bifida (from 33.9 new spina bifida births of 100,000 uncomplicated births to 29.0/100,000, p = 0.08), posterior urethral valves (from 10.4/100,000 to 11.0/100,000, p = 0.51), prune belly syndrome (from 4.8/100,000 to 3.3/100,000, p = 0.44) or ambiguous genitalia (from 5.82/100,000 to 5.87/100,000, p = 0.38). There was a significant decrease in the birth prevalence of bladder exstrophy (from 2.4/100,000 to 1.6/100,000 uncomplicated births, p = 0.01) and a significant increase in epispadias (from 8.0/100,000 to 11.6/100,000) and imperforate anus (from 33.6/100,000 to 35.0/100,000, each p = 0.04) during the study period. CONCLUSIONS: The birth prevalence of spina bifida, posterior urethral valves and prune belly syndrome appears to have been stable in the last 12 years. Epispadias, ambiguous genitalia and imperforate anus diagnoses in newborns became more common in the same period, while bladder exstrophy diagnoses became less common.

Lower urinary tract symptoms (LUTS) in patients in adulthood with bladder exstrophy and epispadias.

UNLABELLED: WHAT'S KNOWN ON THE SUBJECT? AND WHAT DOES THE STUDY ADD?: Many patients with bladder exstrophy or epispadias (BEE) have bladder augmentation or use a catheterisation programme. Of the remainder only some achieve so called '3-h urinary continence'. In addition, some of the patients develop urinary tract infections or bladder stones related to voiding and storage problems. The present study is one of the first to evaluate lower urinary tract symptoms (LUTS) in detail in young adults treated for BEE in childhood by using a validated questionnaire. In addition the patient's own opinion about continence was ascertained. The study shows that both voiding and storage symptoms are frequent in patients with BEE and that most symptoms only become apparent by using a detailed questionnaire. OBJECTIVE: To evaluate lower urinary tract symptoms (LUTS) in patients with bladder exstrophy and epispadias (BEE) who have reached adulthood. PATIENTS AND METHODS: A questionnaire evaluating LUTS was mailed to 52 BEE patients (aged 15-44 years), 32 (62%) returned the questionnaire (19 with bladder exstrophy and 13 with epispadias; 21 males and 11 females). Seven exstrophy patients (37%) had undergone bladder augmentation. Information on LUTS was assessed first with a preliminary question (do you have urinary incontinence?) followed by the Danish Prostatic Symptom Score (DAN-PSS) questionnaire. RESULTS: Of the patients without bladder augmentation or clean intermittent catheterisation, five of 11 patients with exstrophy and 6 of 13 with epispadias considered themselves dry and 13 of 24 (54%) patients had >3 h dry intervals between voiding. According to DAN-PSS questionnaire only two of 11 patients with exstrophy and two of 13 with epispadias were fully continent and could void normally. In addition to storage symptoms, eight of 13 patients with epispadias and 10 of 12 with exstrophy had disturbing voiding symptoms. Moderate or severe LUTS was reported altogether by 12 of 15 (80%) males and by six of nine females. CONCLUSIONS: Continence rates in patients with BEE are very dependent on the evaluation method. Most LUTS become apparent only by using a detailed questionnaire. Moderate or severe LUTS appear to be common amongst patients with BEE.