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Indications for bladder augmentation in the exstrophy-epispadias complex.

Abstract

OBJECTIVE: To determine whether bladder augmentation has a role in avoiding urinary diversion in patients with exstrophy-epispadias complex (EEC), whether it can improve the lifestyle in patients who have previously undergone diversion or improve the result of any single surgical step in the staged functional reconstruction of the bladder in these patients. PATIENTS AND METHODS: From 1970 to 1991, 85 patients were treated for EEC. Between 1981 and 1991, 12 bladder augmentations were performed in 11 patients (seven girls and four boys) with bladder exstrophy, male epispadias (one case) and cloacal exstrophy (one case). RESULTS: No significant early surgical complications were reported. Follow-up ranged from 18 months to 11 years. Late complications included bowel obstruction in one patient, a partial left ureteric stenosis at the level of the anastomosis with the gastric patch wall in one patient and bladder lithiasis in five patients (sigmoidocystoplasty in one and ileocystoplasties in four). No metabolic problems, no bladder perforations or malignancies were observed. The results on continence were good and, with the one exception reported, the condition of the upper urinary tract following surgery was satisfactory in all patients. CONCLUSION: Augmentation cystoplasty is of use in the treatment of patients with bladder exstrophy when staged functional reconstruction is unsuccessful. This technique greatly reduces the indications for urinary diversion and can be used in the surgical treatment of EEC. The only disadvantage is that clean intermittent catheterization must be performed, sometimes only temporarily, but patient acceptance is usually high.

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BibTeXRIS

R De Castro, P Pavanello, R Dòmini. 1994. Indications for bladder augmentation in the exstrophy-epispadias complex.. https://doi.org/10.1111/j.1464-410x.1994.tb07523.x

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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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