The bladder exstrophy-epispadias complex

The bladder exstrophy-epispadias complex (BEEC) represents a spectrum of urologic abnormalities in which part or all of the distal urinary tract fail to close and are exposed on the outer abdominal wall. The most common manifestation of BEEC, classic bladder exstrophy, occurs in approximately 1 out of 30,000 liveborn children. This severe sporadic birth defect is thought to have multifactorial etiology with evidence of genetic factors. Despite the need for multiple surgical corrections the final outcome for patients with epispadias and classic bladder exstrophy is quite favorable with many patients obtaining professional degrees and enjoying fulfilling personal and professional life. Very little is known about the causes of BEEC and our major goal is to identify genetic and non-genetic factors involved in the etiology of this birth defect. In 2000 we initiated a large-scale recruitment effort in collaboration with Dr. John Gerhard, professor of pediatric urology and leading expert of bladder exstrophy surgery at the Johns Hopkins University. Soon after that, Dr. Heiko Reuter and Dr. Michael Ludwig of the Bonn University, Germany joined the project and currently, more than 700 BEEC families from United States and Western Europe have been enrolled in the study and have donated samples for molecular analysis. The study is partially supported by the Children's Miracle network research grant awarded to Dr. Boyd.