Bladder exstrophy

Bladder exstrophy

Bladder exstrophy is a rare malformation when the urinary bladder is not closed and the child is born with an open bladder in the lower part of the abdomen. In Sweden around 3 children ae born every year with bladder exstrophy. They often have to be operated several times during up-bringing and also have medical check-ups regularly. The molecular background is not known, there is however an increased risk among relatives speaking for a genetic background. We were the first to identify that a duplication on chromosome 22 (22q11) is increasing the risk for getting bladder exstrophy and that a few % of bladder exstrophy cases have that chromosome aberration and also an increased risk for hearing loss (Lundin 2010). We have also identified a de novo mutation in a patient with bladder exstrophy and shown the effect of this mutation in a zebrafish model with a malformed cloaca (Körberg et al 2015).