Bladder exstrophy

COMPLETE PRIMARY REPAIR OF EXSTROPHY

Is Pelvic Osteotomy Associated with Lower Risk of Pelvic Organ Prolapse in Postpubertal Females with Classic Bladder Exstrophy?

A population based analysis of continence outcomes and bladder exstrophy.

Expression and Potential Clinical Significance of Urothelial Cytodifferentiation Markers in the Exstrophic Bladder

IntroductionAchieving urinary continence is a key goal in children born with the bladder exstrophy-epispadias complex (BEEC). Unfortunately, this goal is only moderately achieved despite sometimes extensive surgical treatment. Undergoing repeated hospitalization and operations may consequently have a negative impact on quality of life. We therefore believe that other, conservative treatment options should be explored in an earlier stage of incontinence treatment in BEEC patients. As part of this, an intensive urotherapy program based on was offered to patients with persistent incontinence after reconstructive surgery for BEEC. ObjectiveThe aim of this study is to evaluate the benefits of intensive urotherapy on incontinence after reconstructive surgery in children with BEEC. Study designA retrospective chart study was performed including all children who were enrolled in an intensive urotherapy program because of persistent incontinence after reconstructive surgery for BEEC. Urotherapy consisted of a ten-day inpatient training program based on cognitive behavioral therapy, with intensive follow-up by experienced urotherapists. Main outcome measurement was continence, expressed as the percentage of children that achieved complete continence (good result; 100% dry) or 50-99% decrease of wet days a week (improved result) after treatment. ResultsData of 33 patients with a mean age of 10.6 years were analyzed. In 61% of cases (20/33) an improved or good result was reported on incontinence after urotherapy. Children with classic bladder exstrophy more often achieved a good or improved result (13/16; 81%), compared to children with epispadias (6/16; 38%). The only patient with a cloacal exstrophy completed treatment with an improved result. From the group of patients with persistent incontinence, 75% (12/16) reported that the complaints were socially acceptable at the end of follow-up. DiscussionBy following our intensive urotherapy program the majority of patients achieved complete continence or improved incontinence. In addition, our results show that the inpatient training program has a positive impact on acceptance in cases of persistent incontinence. The urotherapists offer individualized care and clear guidance, which we deem essential elements of successful treatment. Considering that repeated surgery may impede progress and offers no guarantee of continence, we recommend giving preference to conservative treatment options ConclusionOur results show that 37% (12/33) of patients with BEEC who were enrolled in our intensive urotherapy program because of persistent incontinence after reconstructive surgery, achieved complete continence after urotherapy and 63% (21/33) still experienced some degree of incontinence. 75% of patients who did not achieve complete continence, described the remaining incontinence as socially acceptable. These findings strongly support counselling patients with BEEC to consider conservative treatment before opting for further surgery.

The modern staged approach to bladder exstrophy reconstruction has undergone significant changes since it was first advocated by Jeffs and Cendron in the 1970s. Although varied surgical approaches have been tried in the bladder exstrophy condition, the staged approach to bladder exstrophy repair has withstood the test of time. Progress continues to be made in evaluating the outcome of older types of staged reconstruction, with continuing modification and improvements in the modern approach to staged reconstruction. This treatise will update the reader on recent advances in the treatment of bladder and cloacal exstrophy.

Videofetoscopically assisted fetal tissue engineering: Bladder augmentation

Bladder exstrophy is a defect which forms a part of midline abdominopelvic fusion abnormalities known as exstrophy-epispadias complex. At one end of this spectrum lies epispadias with cloacal exstrophy being the most severe form.

An Initial Evaluation of Pelvic Floor Function and Quality of Life of Bladder Exstrophy Patients After Ureterosigmoidostomy

Previous studies in developing Xenopus and zebrafish reported that the phosphate transporter slc20a1a is expressed in pronephric kidneys. The recent identification of SLC20A1 as a monoallelic candidate gene for cloacal exstrophy further suggests its involvement in the urinary tract and urorectal development. However, little is known of the functional role of SLC20A1 in urinary tract development. Here, we investigated this using morpholino oligonucleotide knockdown of the zebrafish ortholog slc20a1a. This caused kidney cysts and malformations of the cloaca. Moreover, in morphants we demonstrated dysfunctional voiding and hindgut opening defects mimicking imperforate anus in human cloacal exstrophy. Furthermore, we performed immunohistochemistry of an unaffected 6-week-old human embryo and detected SLC20A1 in the urinary tract and the abdominal midline, structures implicated in the pathogenesis of cloacal exstrophy. Additionally, we resequenced SLC20A1 in 690 individuals with bladder exstrophy-epispadias complex (BEEC) including 84 individuals with cloacal exstrophy. We identified two additional monoallelic de novo variants. One was identified in a case-parent trio with classic bladder exstrophy, and one additional novel de novo variant was detected in an affected mother who transmitted this variant to her affected son. To study the potential cellular impact of SLC20A1 variants, we expressed them in HEK293 cells. Here, phosphate transport was not compromised, suggesting that it is not a disease mechanism. However, there was a tendency for lower levels of cleaved caspase-3, perhaps implicating apoptosis pathways in the disease. Our results suggest SLC20A1 is involved in urinary tract and urorectal development and implicate SLC20A1 as a disease-gene for BEEC.

IntroductionWith the advance of prenatal imaging, more often pediatric surgeons are called for prenatal counseling in suspected cases of cloaca or cloacal exstrophy. This presents new challenges for pediatric surgeons since no specific guidelines have been established so far. The purpose of this review is to analyze our experience in prenatally diagnosed cloaca or cloacal exstrophy and to provide some guidelines for prenatal counseling of these complex congenital anomalies.MethodsA retrospective review of the medical charts of patients with prenatally diagnosed cloaca and cloacal exstrophy who received postnatal care in our institution between July 2005 and March 2012 was performed. Representative images of prenatal studies were selected from 13 cases to illustrate different scenarios and the recommendations given. In addition, a review of the literature was performed to support our advice to parents.ResultsEleven patients were female and two patients were male. The postnatal diagnoses were cloacal exstrophy (6), cloaca (5), posterior cloaca variant (1), and covered cloacal exstrophy (1). The selected abnormal prenatal imaging findings in these 13 patients included hydronephrosis (12), neural tube defect (8), omphalocele (7), lack of meconium at expected rectal location (7), vertebral anomaly (7), non-visualize bladder (5), distended bladder (5), hydrocolpos (4), dilated or echogenic bowel (3), umbilical cord cyst (3), separated pubic bones (2), and the “elephant trunk” sign (2). The prenatal diagnosis was correct in 10 cases, partially correct in two cases, and it was missed in one case. All parents received prenatal counseling depending on the specific diagnosis.ConclusionThe continuous technologic innovations in prenatal imaging make it possible to prenatally diagnose more complex anomalies including cloaca and cloacal exstrophy with increased levels of confidence and enhance the benefit of prenatal counseling. Together, these allow the parents to be better prepared for the condition and the care team to provide the best possible initial management in order to improve the outcomes of these challenging patients.

Purpose:The Bladder Exstrophy-Epispadias Complex (BEEC) is the most serious form of midline abdominal malformation. The etiology of BEEC is unknown and is thought to be multifactorial. Methylenetetrahydrofolate reductase (MTHFR) polymorphism C677T is strongly associated with other midline abnormalities such as neural tube defects. No proper case-control study existed comparing MTHFR polymorphism with BEEC. We sought to find an association with MTHFR polymorphism and patients with bladder exstrophy (BE).Materials and Methods:The design of the study was a case-control study, involving 50 children with BEEC and 50 normal healthy school children. Genetic analysis for MTHFR 677 polymorphism was carried out after DNA extraction and polymerase chain reaction amplification. Epidemiological analysis was done by using the birth defect questionnaire on parents of BEEC.Results:Forty-two classical BE, two cloacal exstrophies (CE), four epispadias, and two exstrophy variant patients were a part of this study. Severe variety of BE had a significant association with C667T MTHFR polymorphism as compared to the normal control population (P = 0.01).Conclusion:C677T MTHFR polymorphism has a strong association with severe variety (CE) of BEEC occurrence.

Pelvic Ring Stabilization Using Anterior Subcutaneous Internal Fixation in Bladder Exstrophy Repair

Classic bladder exstrophy (BE) is regarded as an isolated malformation without any further anomalies, but some studies have indicated a higher incidence of cardiac anomalies. This cross-sectional study is planned to evaluate the prevalence of congenital heart defects (CHDs) and the clinical relevance for patients with BE admitted for primary closure. Patients were prospectively recruited between March 2012 and January 2019. Patients' profiles including demographic data, results of transthoracic echocardiography (TTE), as well as essential peri- and postoperative data were assessed. Thirty-nine (25 boys and 14 girls) patients with BE (median age 61 days) underwent delayed primary bladder closure. Thirty-seven (24 boys and 13 girls) patients had received TTE 1 day before surgery. CHD was detected in 7 (18.9%) out of the 39 patients, but no clinical differences between patients with and without CHD were observed peri- or postoperatively. This prospective systematic evaluation shows an even higher rate of CHD in patients with BE than assumed previously. Although peri- and postoperative outcome did not differ between patients with and without CHD, we consider TTE an important additional method for ensuring a safe peri- and postoperative courses and a short- and long-term care for patients with CHD.

Bladder exstrophy-epispadias complex is a rare condition that necessitates numerous surgical procedures during a patient's youth to achieve adequate urine storage and continence. This study aimed to identify the specific needs and functional challenges faced by adults who underwent pediatric bladder exstrophy reconstructions and assess the management of these issues in an adult population. A retrospective chart review was conducted for all bladder exstrophy complex patients who underwent surgery at a young age and were subsequently referred to our center between 2005 and 2020. Inclusion criteria included patients with cloacal or classical bladder exstrophy older than 18 years. We recorded the reasons for referral, management of contemporary complaints, types of past and present urinary reconstructions, and their current functional status. The study included 38 patients. The primary reasons for referral were incontinence (39%) and catheterization difficulties (24%). Management typically involved partial or complete surgical revision of their urinary reservoir, occasionally combined with a bladder neck procedure. Ultimately, only three patients continued to experience incontinence, while none reported catheterization issues after undergoing treatment at our center. Long-term exstrophy-related reconstruction complications included urinary tract infections (39%), stones (29%), stenosis (24%), fistulas (13%), chronic renal disease (16%), metabolic abnormalities (3%), and cancer (3%). Adults who have previously undergone bladder exstrophy reconstruction exhibit a wide range of urologic reconstructions. Their needs often revolve around continence and catheterization concerns. Most patients with satisfactory functional outcomes perform self-catheterization through a continent cutaneous channel and have either a continent pouch or an augmented bladder.