Quality of Life in Female Epispadias.

Introduction and Aim Female epispadias is a rare congenital anomaly associated with significant urinary incontinence. This study aims to evaluate the results of its treatment in terms of continence, sexuality, and impact of incontinence on quality of life. Materials and Methods We retrospectively reviewed nine patients (5-39 years) treated of female epispadias in our hospital during the period 1976-2013. Urinary continence (ICIQ-SF), sexuality, impact of incontinence on quality of life (Potenziani-14-CI-IO-2000-QOL), and overall quality of life (SF-36) were evaluated. Results All nine women were treated by bladder neck reconstruction (Young-Dees-Leadbetter) and genitoplasty; four received 2.5 (R = 1-5) endoscopic bladder neck injections; one required enterocystoplasty, urinary diversion, and bladder neck closure because of persistent incontinence; five performed pelvic floor rehabilitation; and two took anticholinergics. Three achieved continence; five had mild urinary incontinence; and 1 had moderate urinary incontinence and was awaiting an endoscopic injection. Of the seven who were older than 18 years, five answered the questionnaires of quality of life and sexuality. All had a general quality of life (SF-36) that does not differ from the normal population and had a slight impact (7 [0-15] points) of incontinence on quality of life (Potenziani-14-CI-IO-QOL-2000). Four had a normal sex life, and the fifth had lack of self-confidence due to her incontinence. Conclusion Patients with female epispadias have good long-term results regarding quality of life and sexuality, despite having some degree of urinary incontinence.

Bladder neck closure in children: long-term results and consequences.

AIM: Only few studies have gathered information on the long-term outcomes of children undergoing bladder neck closure (BNC). In the present study, we analyze the long-term results and consequences in this population. PATIENTS AND METHODS: The medical records of 20 patients (12 males and 8 females), who underwent BNC after several failed procedures to improve urinary incontinence were revised. Exstrophy complex was the underlying diagnose in all the cases: bladder exstrophy in 15 and cloacal exstrophy in 5. The median age of the patients at the time of surgery was 11.5 years (range 4-19 years). Previous surgeries were bladder neck reconstruction in 14 patients, bladder neck injection in 4 patients, and previous BNC in 1 patient. Overall 17 patients had concomitant bladder augmentation. The catheterizable stoma was made with appendix in 14, bowel in 3, and ureter in 3. The nine male patients aged>18 years at the time of this study received a questionnaire with specific questions on erections, orgasm, and details of ejaculation and were also asked to provide a semen sample. RESULTS: The median follow-up was 10 years (range 2-17 years) and median patient age was 21 years (range 13-32 years). Urinary continence was achieved initially in 16 patients (80%); 4 had a bladder neck fistula, 3 of them underwent surgical revision and achieved dryness. Long-term complications were: bladder stones (eight patients); stomal problems (four stenosis and three leaks); bladder perforation (two patients), and orchitis (one patient). All patients above the age of 18 years reported erections and orgasms although two had medium erectile dysfunction. The ejaculate volume was reported as normal in five, scarce in three, and absent in one, with slow ejection in seven. Only four supplied semen samples and only two showed normal values. CONCLUSIONS: BNC is an effective approach to incontinence when other procedures have failed. In the long term, the most frequent complications are those related with catheterizable stoma and stones. The high incidence report of a low fertility index and erectile dysfunction meant further study in a larger cohort.

Insertion/deletion polymorphisms in the ΔNp63 promoter are a risk factor for bladder exstrophy epispadias complex.

Bladder exstrophy epispadias complex (BEEC) is a severe congenital anomaly; however, the genetic and molecular mechanisms underlying the formation of BEEC remain unclear. TP63, a member of TP53 tumor suppressor gene family, is expressed in bladder urothelium and skin over the external genitalia during mammalian development. It plays a role in bladder development. We have previously shown that p63(-/-) mouse embryos developed a bladder exstrophy phenotype identical to human BEEC. We hypothesised that TP63 is involved in human BEEC pathogenesis. RNA was extracted from BEEC foreskin specimens and, as in mice, ΔNp63 was the predominant p63 isoform. ΔNp63 expression in the foreskin and bladder epithelium of BEEC patients was reduced. DNA was sequenced from 163 BEEC patients and 285 ethnicity-matched controls. No exon mutations were detected. Sequencing of the ΔNp63 promoter showed 7 single nucleotide polymorphisms and 4 insertion/deletion (indel) polymorphisms. Indel polymorphisms were associated with an increased risk of BEEC. Significantly the sites of indel polymorphisms differed between Caucasian and non-Caucasian populations. A 12-base-pair deletion was associated with an increased risk with only Caucasian patients (p = 0.0052 Odds Ratio (OR) = 18.33), whereas a 4-base-pair insertion was only associated with non-Caucasian patients (p = 0.0259 OR = 4.583). We found a consistent and statistically significant reduction in transcriptional efficiencies of the promoter sequences containing indel polymorphisms in luciferase assays. These findings suggest that indel polymorphisms of the ΔNp63 promoter lead to a reduction in p63 expression, which could lead to BEEC.

Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe.

OBJECTIVE: To identify genetic and nongenetic risk factors that contribute to the severity of the bladder exstrophy-epispadias complex (BEEC). STUDY DESIGN: Patients with BEEC from North America (n = 167) and Europe (n = 274) were included. The following data were collected: associated anomalies, parental age at conception, mode of conception, periconceptional folic acid supplementation, maternal risk factors during pregnancy, and environmental risk factors. The patients were divided into 3 subgroups according to phenotype severity: (i) mild, epispadias (n = 43); (ii) intermediate, classic bladder exstrophy (n = 366); and (iii) severe, cloacal exstrophy (n = 31). These subgroups then were compared with identify factors that contribute to phenotype severity. RESULTS: Males were overrepresented in all subgroups. A relatively high prevalence of cleft lip, with or without cleft palate, was observed. Maternal smoking and medical radiation during the first trimester were associated with the severe cloacal exstrophy phenotype. Compliance with periconceptional folic acid supplementation was associated with the mildest phenotype (epispadias). CONCLUSIONS: Periconceptional folic acid supplementation appears to prevent the development of the severe phenotype of BEEC.

The valve bladder: etiology and outcome.

The infravesical obstruction created by posterior urethral valves produces a series of structural, biochemical, and functional changes in these boys' bladders that begins during fetal life. Any change can be irreversible and result in the alterations in bladder function that can be found in some of these patients. Bladder instability, poor compliance, and myogenic failure are the three most common urodynamic patterns and are also responsible for some of these patients' poor long-term prognosis. Treatment of bladder dysfunction in these patients is basically directed toward improving their kidney function prognosis and also to avoid the urinary incontinence presented secondarily by some valve bladders.