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PubMed · 10958737

How well do patients with exstrophy actually void?

Abstract

PURPOSE: Achieving continence and preserving renal function are goals in the care of patients with bladder exstrophy. The Young-Dees-Leadbetter bladder neck reconstruction should ideally provide continence and normal voiding dynamics without the need for intermittent catheterization. We review our experience with bladder neck reconstruction in this population with emphasis on voiding dynamics among those patients doing well. MATERIALS AND METHODS: We retrospectively analyzed all patients with the exstrophy-epispadias complex seen at our institutions since 1985. We reviewed staged reconstruction in 53 patients, including 31 with classic bladder exstrophy, 4 with exstrophy variants and 18 with incontinent epispadias. Patients with additional neurogenic dysfunction were excluded from study. Subjective and objective data regarding voiding function and complications were collected. RESULTS: Complete reconstruction for continence was performed in 38 cases, of which 11 that required bladder augmentation with bladder neck reconstruction or who had a different primary continence procedure were excluded from study. The remaining 27 patients treated with the Young-Dees-Leadbetter bladder neck reconstruction had 2 or more years of followup (mean 5.9). Dry intervals of at least 2 hours were achieved by 18 patients and all were considered by parents to void well. Despite near or total subjective continence and "good" voiding, 13 of these 18 patients (72%) have clinical problems related to emptying, which include recurrent urinary tract infections in 10, epididymitis in 2 and bladder calculi in 4. Objective urodynamic parameters confirm poor voiding in most patients. CONCLUSIONS: Bladder neck reconstruction in patients with exstrophy can achieve continence without intermittent catheterization. In our experience patients who achieve these goals have an alarming frequency of clinical and urodynamic problems related to emptying. One must question the normalcy of the voiding pattern and price to achieve continence among patients with exstrophy.

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BibTeXRIS

E B Yerkes, M C Adams, R C Rink, I V Pope JC, J W Brock. 2000. How well do patients with exstrophy actually void?. https://doi.org/10.1097/00005392-200009020-00030

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MTHFR 677 TT genotype in a mother and her child with Down syndrome, atrioventricular canal and exstrophy of the bladder: implications of a mutual genetic risk factor?

Apart from Husmann and Vandersteen [in: Gearhart JP, Matthews R (eds) The Epispadias-Exstrophy Complex. Kluwer, New York, pp 199-206, 1999], we report only the second case of Down syndrome (DS) associated with exstrophy of the bladder (EB). Besides the appearance of DS, the newborn exhibited a complete atrioventricular canal (CAVC) and classical EB, including diastases of the symphysis, an epispadic penis and an open bladder plate. Despite current recommendations, the mother had not supplemented her intake of folic acid during the periconceptional period. In a comparable case, Al-Gazali et al. (Am J Med Genet 103:128-132, 2001) found the homozygous 677T allele of the methylenetetrahydrofolate (MTHFR) gene 677C-->T polymorphism in a mother and her child with DS and cervical meningomyelocele. They found that the mother, who also had not supplemented her folic acid intake, had a secondarily altered folate status with an increased homocysteine level, suggesting that the homozygous TT mutation in the MTHFR gene in both mother and her child had contributed to the presentation of DS and a neural tube defect. The combined clinical findings of the present case and the observations of Al-Gazali et al. led us to investigate the 677C-->T polymorphism in our mother-child pair. Likewise we found that mother and child were homozygous for the mutant 677T allele. Our findings support the suggestion of Al-Gazali et al. that the MTHFR 677TT could be a mutual genetic risk factor for the co-occurrence of trisomy 21 and midline defects, the risk of which may be reduced by periconceptional folic acid supplementation.

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