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PubMed1984

The inheritance of the exstrophy-epispadias complex.

The inheritance pattern of the exstrophy-epispadias complex was investigated by a combined literature review and a survey of the personal experience of pediatric urologists in North and South America, and Europe. Bladder exstrophy recurred in only 9 of approximately 2,500 families (1 in 275) with bladder exstrophy or complete epispadias. The recurrence of the exstrophy-epispadias complex in offspring of parents with bladder exstrophy or complete epispadias has never been described previously. We identified 215 offspring produced by parents with bladder exstrophy or epispadias, and bladder exstrophy was inherited in 3 of the offspring (1 in 70 live births). The recurrence of bladder exstrophy in offspring of parents with the exstrophy-epispadias complex is greater than previously assumed.

Abnormalities, Multiple↗
PubMed2003

In vitro fertilization and the cloacal-bladder exstrophy-epispadias complex: is there an association?

PURPOSE: The cloacal-bladder exstrophy-epispadias complex represents a collection of congenital malformations caused by failed mesenchymal development during the first trimester. We sought to determine whether the exstrophy-epispadias complex is overrepresented among children conceived by in vitro fertilization (IVF). MATERIALS AND METHODS: The clinic charts of all patients born between 1998 and 2001 who presented to our institution with the exstrophy-epispadias complex were reviewed. Four patients conceived by IVF and born with exstrophy-epispadias were identified and telephone interviews were conducted with the parents. Statistical analysis using clinical data and available United States population data was performed. RESULTS: Of 78 clinic patients with exstrophy-epispadias born during a 4-year period 4 were conceived using IVF. An estimated 12% to 14% of children born in the United States with the exstrophy-epispadias complex are evaluated annually at our institution. During the years 1997 to 2000, 112,137 children in the United States were conceived using IVF. According to published incidence data, approximately 5 children with exstrophy-epispadias would be expected among this entire population. Expected numbers of children in the United States conceived by IVF and born with exstrophy-epispadias during a 4-year period were calculated based on the observed number in our clinic population. A resulting 7.3-fold relative increase in incidence was determined (p = 0.0021). CONCLUSIONS: The exstrophy-epispadias complex appears to occur more frequently in children conceived by in vitro fertilization.

Bladder Exstrophy↗
PubMed1999

Complete primary repair of exstrophy.

PURPOSE: The surgical correction of bladder exstrophy to achieve continence with voiding remains a challenging problem for the urologist. Since 1989 we have performed complete primary repair for exstrophy based on the concept that the primary defect of bladder and cloacal exstrophy is anterior herniation. Thus, the bladder and urethra must be treated as a single unit to move them posteriorly into the pelvis. We present this technique. MATERIALS AND METHODS: From 1989 to 1997, 18 patients with bladder exstrophy and 6 with cloacal exstrophy underwent complete primary repair of exstrophy. This procedure was done on day 1 of life in 18 patients. Mean followup is 44 months (range 4 months to 8 years). RESULTS: At a median followup of 48 months 4 boys and 4 girls have volitional voiding after complete primary repair of bladder exstrophy, 21 patients have continent intervals and 2 boys void with continent intervals after complete primary repair of cloacal exstrophy. No patient has had a loss of renal function in this series. Postoperative complications included urethrocutaneous fistula formation in 2 cases. No patient had primary closure dehiscence. CONCLUSIONS: The rate of urinary continence achieved with complete primary repair compares favorably to that of staged repair for exstrophy. Complete primary repair also minimizes the number of surgical procedures required to achieve urinary continence and potentiates bladder neck function that permits bladder cycling in year 1 of life. The complication rates of these techniques are significantly lower than those reported in previous series of primary closure of exstrophy.

Bladder Exstrophy↗
PubMed2001

The AP diameter of the pelvis: a new criterion for continence in the exstrophy complex?

OBJECTIVE: Reconstructive surgery of bladder exstrophy remains a challenge. By using CT of the pelvis, we suggest a new pre- and post-operative investigative procedure to define the AP diameter (APD) as a predictive criterion for continence in this anomaly. PATIENTS AND METHODS: Three axial CT slices were selected in nine children with exstrophy who had undergone neonatal reconstructive surgery. The three levels selected were the first sacral plate, the mid acetabular plane and the superior pubic spine. We used combined slices to measure: APD = distance between the first sacral vertebra and the pubic symphysis. Pubic diastasis (PD). Three angles defined on the transverse plane of the first sacral vertebra--iliac wing angle, sacropubic angle and acetabular version. RESULTS: In exstrophy, the angles demonstrate opening of the iliac wings and the pubic ramus, and acetabular retroversion compared to controls. Comparisons between controls, continent and incontinent patients reveal that in continent patients, APD increases with growth and seems to be a predictive criterion for continence, independent of diastasis of the pubic symphysis. CONCLUSIONS: We believe that CT of the pelvis with measurements of the APD should be performed in all neonates with bladder exstrophy before reconstructive surgery and for better understanding of the malformation. The APD seems to be predictive and may be a major criterion for continence, independent of PD.

Bladder Exstrophy↗
PubMed2006

Aesthetic aspects of abdominal wall and external genital reconstructive surgery in bladder exstrophy-epispadias complex.

Long-term follow-up of patients born with classical bladder exstrophy-epispadias complex (EEC) reveals that many of them suffer from poor self-image, and the aesthetic aspects of the genitalia and lower abdomen acquire greater significance with age. In this article, we review the aesthetic outcomes in performing puboplasty, umbilicoplasty, and genitoplasty in patients born with EEC. Retrospective review of the cosmetic and functional outcomes in 116 patients born with EEC treated by puboplasty, umbilicoplasty, or genitoplasty was performed. Satisfaction with the cosmetic and functional outcomes of these three reconstructive surgeries was high following initial reconstructive efforts (> 90%). Attention to cosmesis during abdominal wall and genital reconstruction for EEC helps to improve a patient's perception of body image and self-esteem. Our experience with these procedures over the past 25 years demonstrated that the efforts directed toward aesthetics have been well worthwhile.

Abdominal Wall↗
PubMed1998

Loss of urethrovaginal septum as a complication of exstrophy closure in girls.

PURPOSE: The aim of this study was to report complications involving paraexstrophy skin flaps in the female bladder exstrophy closure. MATERIALS AND METHODS: Bladder exstrophies in three female patients were initially closed using paraexstrophy skin flaps, with an osteotomy being performed in only 1 patient. A dehiscence occurred in all, and a reclosure was performed at a mean of 10 (range: 7-18) months after the initial closure. RESULTS: Two patients underwent successful reclosure and are awaiting bladder neck reconstruction. The third patient, who had complete procidentia, had a bladder which failed to grow after successful reclosure and underwent augmentation cystoplasty. CONCLUSIONS: Closure of bladder exstrophy in female patients using paraexstrophy skin flaps can be associated with an increased complication rate and should be used judiciously in the exstrophy patient.

Bladder Exstrophy↗
PubMed1997

A simplified Kropp procedure for incontinence.

PURPOSE: A simplified Kropp bladder neck reconstruction was done to achieve urinary continence. MATERIALS AND METHODS: A total of 23 patients with an incompetent bladder neck underwent the procedure, including 22 with a neurogenic bladder secondary to myelodysplasia and 1 with bladder exstrophy. The bladder neck operation was incorporated into comprehensive lower tract reconstruction that included simultaneous augmentation cystoplasty in 20 patients, ureteroneocystostomy in 6 and appendicovesicostomy in 6. RESULTS: Of the 23 patients 21 (91%) are continent. Complications included difficult catheterization in boys and new onset vesicoureteral reflux. CONCLUSIONS: This operation is easily performed and effective for achieving continence.

Adolescent↗
PubMed2004

The continent bladder: indications and techniques for the continent catheterizable segment.

PURPOSE OF REVIEW: Continent catheterizable segments are a substantial part of the urologist's armamentarium for providing bladder drainage. It is used for a myriad of indications, and there are multiple techniques currently used for its formation. Despite refinements in these techniques significant complications still occur, and there is continued advancement and ongoing investigation. This review examines the current status of the continent catheterizable segment with regard to indications for its use, techniques in its formation, discussion of complications, and ongoing and future directions in research. RECENT FINDINGS: The continent catheterizable segment is indicated when it is not feasible to use the urethra for evacuation (e.g. bladder exstrophy, neurogenic bladder, radiation injury, and marked urethral dysfunction) or to facilitate catheterization. Compliance with catheterization and irrigation regimens is essential in patient selection. Multiple methods exist for its formation, either with or without the need for bladder augmentation. Although Mitrofanoff techniques with multiple applications predominate, "hemi" augments with efferent limbs also play a significant role. Stoma placement should be performed to best facilitate catheterization. Complications relating to catheterizable segments mainly pertain to continence, stenosis, and ability to catheterize, with more significant morbidity relating to the bladder augmentation. Ongoing research to develop more physiologic tissue substitutes and less invasive techniques may hopefully be superseded by prevention of the underlying lower urinary tract pathology. SUMMARY: Catheterizable segments allow the patient to control bladder evacuation, and continue to be refined by ongoing investigations in terms of indication and technique, with attendent decreasing morbidity.

Humans↗
PubMed1989

[The continent urostomy. 12 years' experience with the continent ileocecal bladder].

The ileo-caecal continent urostomy was first described in 1975. It is a combination between an ileo-caecal reservoir and an ileal hydraulic valve. From 1973 to 1986 we performed 107 such operations (41 for vesicovaginal fistula, 40 for bladder tumor, 26 for bladder exstrophy, neurogenic bladder and miscellaneous). Continence was obtained in 100 patients (80 at the first operation and 20 after operation). The follow up was 3 to 146 months (average 37) in 82 patients 74 of whom had conserved good continence. In cases with failure of continence, repair was obtained by reinvagination of the same valve or by creating a new valve. Only 2 cases of metabolic disorders in the form of acute pyelonephritis are reported. The continent urostomy provides a better quality of life for patients requiring a urinary diversion. The psychosocial and economic impact is very important.

Adolescent↗
PubMed2006

Gender-associated differences in the psychosocial and developmental outcome in patients affected with the bladder exstrophy-epispadias complex.

OBJECTIVE: To identify problems in the long-term psychosocial and developmental outcome specific to patients with the bladder exstrophy-epispadias complex (BEEC), using a self-developed semi-structured questionnaire, as there are various techniques of reconstruction to repair BEEC but to date neither patients nor surgeons have a clear answer about which type gives the most acceptable long-term results. PATIENTS AND METHODS: Increasingly many patients with BEEC reach adulthood and wish to have sexual relationships and families. To date, no studies have used disease-specific psychological instruments to measure the psychosocial status of patients with BEEC. Thus we contacted 208 patients with BEEC, and 122 were enrolled, covering the complete spectrum of the BEEC. The data assessed included the surgical reconstruction, subjective assessment of continence, developmental milestones, school performance and career, overall satisfaction in life, disease-specific fears and partnership experiences in patients aged >18 years. We compared affected females and males to assess gender-associated differences in quality of life. RESULTS: Affected females had more close friendships, fewer disadvantages in relation to healthy female peers and more partnerships than the males. Family planning seemed to be less of a problem in affected females. There were no gender differences in the adjustments within school and professional career, which was very good in general. CONCLUSION: Future studies are needed to assess the disease-specific anxieties, considering gender-specific differences.

Adolescent↗
PubMed2006

Bladder exstrophy-epispadias complex: Investigation of suppressor of variegation, enhancer of zeste and Trithorax (SET) as a candidate gene in a large cohort of patients.

OBJECTIVE: The bladder exstrophy-epispadias complex (BEEC) describes a rare anterior midline defect with variable expression involving the infra-umbilical abdominal wall, including the pelvis, urinary tract and external genitalia. It is assumed that the underlying cause of BEEC is a multifactorial mode of inheritance; however, its aetiology remains unknown. Only a few BEEC patients with distinctive cytogenetic features such as numeric or structural chromosomal abnormalities have been reported. The observation of translocations concerning the region of chromosome 9q32-q34.1 in two patients implies that this region bears a candidate gene which, during early blastogenesis, governs the development of this primary field. In this context, we considered the suppressor of variegation, enhancer of zeste and Trithorax (SET) gene, located at chromosome 9q34, to be a good candidate, as the protein encoded is involved in the regulation of cell proliferation and differentiation. Moreover, SET expression was detected in embryonic kidney. MATERIAL AND METHODS: A total of 33 patients affected with BEEC were analysed for mutations in the SET gene. RESULTS: SET analysis did not reveal either a mutation or the presence of four single-nucleotide polymorphisms (dbSNP124) already described in the database. CONCLUSIONS: The data obtained in this study most likely exclude the SET gene as a possible genetic cause of BEEC. Hence, other genes in this region may contribute to the development of this midline defect.

Bladder Exstrophy↗
PubMed1988

A comparison of renal function in the exstrophy patient treated with staged reconstruction versus urinary diversion.

To assess the preservation of renal function in bladder exstrophy 91 patients with classical bladder exstrophy managed with either staged reconstruction or urinary diversion were reviewed. Renal damage was defined as the development of a renal scar or a persistent elevation in serum creatinine. Of the patients 72 have completed the bladder reconstruction; 51 (71 per cent) are continent and renal damage occurred in 10 (13 per cent) of the reconstructed patients. Median followup was 12.7 years. In a comparable group of 23 exstrophy patients managed by urinary diversion the occurrence of renal damage was notably higher: 82 per cent for ileal conduits, 22 per cent for nonrefluxing colonic conduits and 33 per cent for ureterosigmoidostomy. Based on these results we believe that staged reconstruction of the patient with classical bladder exstrophy offers a low risk for renal injury, an excellent chance for urinary continence and a more acceptable cosmetic appearance.

Bladder Exstrophy↗
PubMed1991

Bladder function and dysfunction in exstrophy and epispadias.

Bladder exstrophy and epispadias are congenital abnormalities of the urinary bladder. Evaluation of bladder function before and after bladder-neck reconstruction has not been done in patients with these conditions. We report the preliminary results of a prospective study of lower-urinary-tract function in 36 children (10 girls, 26 boys; age range 1.5-16 years) with bladder exstrophy and epispadias. Children's bladder function was measured by cystometry and cystography, and their upper urinary tracts were examined by ultrasound imaging. Normal bladder function was seen in children with primary epispadias but this was severely impaired in children who had had conventional bladder-neck surgery for continence, implying that this may not be the optimal treatment. Contrary to current assumption, children with closed exstrophy bladders are not capable of normal function, and the abnormalities we identified may be a major cause of upper-urinary-tract damage and may impair development of bladder capacity. Although unrecognised in the past, involuntary bladder contractions are a primary cause of urine leakage persisting in children with exstrophy and epispadias after continence surgery. Detailed functional testing should become a routine part of the evaluation of children with exstrophy and epispadias.

Adolescent↗
PubMed1991

Management of the failed exstrophy closure.

In the last 5 years we have seen 15 boys and 9 girls with failure of exstrophy closure, including 20 who had classical bladder exstrophy and 4 who had cloacal exstrophy. At the time of presentation 18 patients had undergone 1 closure while 6 patients had undergone 2 prior exstrophy closures. Closure was performed for complete bladder dehiscence in 16 cases and for significant bladder prolapse in 8. None of the patients underwent any form of osteotomy at the time of initial closure and in 19 closure was done within 72 hours of birth. Two patients underwent posterior iliac osteotomy elsewhere at the time of secondary closure. All patients referred to our institution underwent either posterior iliac osteotomy (8 patients) or anterior innominate osteotomy (16 patients). Epispadias repair along with reclosure of bladder exstrophy was done in 13 boys. The upper tract remained normal in all patients. There were no instances of failure in this group of reclosures. Eight patients have undergone subsequent bladder neck reconstruction of whom 7 are dry for 4 hours and 1 remains totally incontinent. Two patients have undergone simultaneous bladder neck reconstruction and augmentation cystoplasty, and they are dry on intermittent self-catheterization. The failed exstrophy closure presents a formidable dilemma. However, a secure reclosure can be achieved with careful surgical technique, a well performed osteotomy (even if previously performed) and concomitant epispadias repair for male subjects.

Bladder Exstrophy↗
PubMed1988

[Transureteroureterostomy. Results in a series of 42 children and young adults].

Forty two TUU have been performed from 1974 to 1986 in children and young adults: the youngest was 10 years, the oldest 26. The mean follow-up has been more than 5 years: 23 bladder exstrophies, 12 neurogenic bladders, 5 mega-ureters and 2 retroperitoneal tumors. TUU were performed after failure of uretero-cysto-neostomies (8/42) ou uretero-sigmoid reimplantation (19/42). The technique with details about drainage (16/42) is described. In 5 cases, complications appeared early: 3 fistulae, 2 sweelings of the anastomosis. tests done 3 months after the operation did not show any other complication in relation with the TUU. Nevertheless one reflux and 3 stenoses of the end of the recipient ureter caused dilatation of two upper urinary tracts. During the long term follow-up, it was necessary to perform 2 nephrectomies of the donor ureter and 5 operations on the end of the recipient ureter. These complications were independant of the TUU. The final result of TUU was excellent.

Adolescent↗