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.
The structure and ultrastructure were studied of 48 specimens from cases of congenital ureteroplevic junction obstructions and primary obstructive megaureters. Under light microscopy a spectrum of findings occurs, extending from the nearly normal to the clearly abnormal obstructive segments. However, under electron microscopy there were consistent abnormalities: 1) excessive collagen fibers between and around the muscle cells and 2) a group of compromised muscle cells proximal to the collagenous segment. These findings are responsible for functional discontinuity via the nexus and indistensibility of the pathologic areas. The high resolution of the electron microscope allows clearer definition of these obstructions and the impact of these findings on surgical remodeling is discussed.
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