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Hypospadias and bladder exstrophy.

Abstract

Reconstructive surgery for patients with hypospadias, bladder exstrophy and cloacal exstrophy is challenging. Over the last few years, more and more data have become available concerning incidence and epidemiology, as well as short- and long-term results of surgical techniques. The tubularized incised plate urethroplasty for hypospadias repair continues to gain in popularity. However, the results of long-term studies of larger series supporting this enthusiasm are still missing. Buccal mucosa is more frequently used in complex hypospadias cases with good short- and long-term results. The one-stage approach of exstrophy repair seems to be promising. However, failures, which require very complex reconstructions, are also reported. Urodynamic studies demonstrated severe abnormalities of bladder function even in continent patients. Therefore, one must question the normality of voiding patterns, and the price to be paid in achieving continence for patients with exstrophy. Achievement of continence for urine and stool is possible for patients with cloacal exstrophy. The colon should be preserved and should not be used for bladder or vaginal reconstruction. The incidence of neoplasia in patients with bladder exstrophy seems to be higher than expected. However, only one cohort study is presently available.

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BibTeXRIS

Raimund Stein, Joachim W Thüroff. 2002. Hypospadias and bladder exstrophy.. https://doi.org/10.1097/00042307-200205000-00003

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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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