Bladder Exstrophy

 

Condition Description

Bladder exstrophy is a serious birth defect where the fetal cells do not come together to fuse over the middle of the abdomen, leaving the lower abdomen open and the structures improperly developed. The word "exstrophy" is Greek, meaning "turn inside out". That description is fairly accurate in that the bladder's inner surface is exposed. The bladder is incomplete and open to the surface and urine from the kidneys drains into this open area instead of into an enclosed bladder. The lining of the bladder is attached to the skin of the abdomen and the pubic bones are not in place to form a protective cavity around the bladder and reproductive organs. There is a large range of severity in bladder exstrophy: the abdominal opening may be small and easily closed, or it may be very large and the defect may involve the genitals and pelvis as well.

Prevalence

Bladder exstrophy occurs in 1 of 30,000 live births and is 5 times more common in boys than in girls. There is no known cause of bladder exstrophy but it does run in families, with a rate of 1 in 100 births in families that have already had one child with the condition.

Common Associated Conditions

The kidneys of a child with bladder exstrophy are typically normal but the rest of the urinary drainage system is often affected, including the genitalia. Epispadius is found with 15% of children with bladder exstrophy (though epispadius may occur without bladder exstrophy). Epispadius is a defect of the penis where the upper surface is open, flat and short with the outlet for the urine (meatus) on the upper surface instead of at the tip of the penis. In girls with epispadius, the clitoris is typically split and the urethral opening is misplaced, usually opening into the vagina. Baby boys can also have an associated condition called chordee where a fibrous band on the undersurface of the penis pulls the penis into a downward curve, especially noticeable with the penis is erect. Other associated conditions include an absent bladder sphincter which prevents bladder control, a small bladder capacity, abnormally positioned ureter, and outwardly rotated hips with an open pelvic ring causing children to walk with a "toeing out" gait. Two other findings do not cause any symptoms: the anus and rectum are positioned further forward (closer to the vagina or scrotum), and the umbilicus is low in the abdomen (and usually removed during the bladder surgery).

Short-Term Treatment and Outcomes

Surgery is necessary to reconstruct the bladder and position the pelvis around the bladder. This will need to be done promptly (within the first 48 hours of life) to prevent infection from damaging the kidney function since the whole urinary system is open to the air. The pelvic bones will be brought together, the bladder placed inside and closed, and the abdominal wall's muscles and skin will be closed over the bladder. In girls, the genitalia can often be reconstructed at least partially at this initial surgery. In boys the penis and urethra repair will be done between 1 and 2 years of age when the penis is bigger.

The prognosis for maintenance of normal renal function is good. The bladder can almost always be reconstructed and returned to the pelvis, although vesicoureteral reflux (back-flow of urine from the bladder into the ureters and kidneys) is invariably present and must be closely observed and treated. Surgical reconstruction of the genitalia is often required.

Long-Term Treatment and Outcomes

Staged reconstructive surgeries will typically be necessary, and each child's plan for correction will be unique to that child's condition. If the bladder reconstruction is not immediately possible, urine drainage may be created by diverting the ureters to the surface (ureterostomy) or into a loop of bowel (ureterosigmoidostomy) so that there will not be back-pressure into the kidneys to cause damage. The ureters can be then placed into the reconstructed bladder at a later time in multi-staged surgical procedures once growth and healing of the bladder make this possible. Sometimes pieces of intestinal tissue will be used to create a bladder wall.

Further bladder surgery is typically done at around 5 years of age to reposition the ureters in the bladder and create a bladder sphincter that will open and close to release urine. The surgery is done at this time because growth has enlarged the tissues and control of urine can usually then be achieved before the child starts school. If bladder control cannot be created children will be taught to do intermittent self-catheterization to empty their bladders, a procedure that can become very routine to the child and family and can be successful in preventing kidney damage and achieving control of urine.

The family will be offered genetic counseling in order to be informed about risks of bladder exstrophy in future pregnancies.

Common Complications

Almost always there will be back-flow of urine into the kidneys (reflux) that can damage the delicate tissue and function of the kidneys (hydronephrosis). Antibiotics (1 low dose each night) may be used for many years in order to prevent infections. Many children with bladder exstrophy will have bladder control problems with lack of control of the emptying of the bladder, making toilet training and continence of urine problematic.

People with bladder exstrophy can usually reproduce but there may need to be medical help to do so. They are usually not sterile and their genital sensation will typically be intact. Girls may require surgery to enlarge the vagina during puberty in order to make intercourse comfortable. When a woman with exstrophy becomes pregnant the uterus may drop down into the vagina and delivery through the vagina may not be possible, requiring a cesarean section. Careful attention throughout pregnancy from an obstetrical specialist will be essential.

Men with bladder exstrophy can father children and typically have normal sensations during sexual intercourse. However, with ejaculation the sperm may travel back into the bladder instead of outside through the penis to impregnate the woman. The sperm can be implanted in the woman via artificial insemination to permit the man to father children. Men may also have highly-positioned testicles, and testicles that are very close to the body may have low sperm counts because the temperature is too high for some of the sperm to survive.

Implications for Children's Development

Bladder exstrophy is a complex condition in children when they have the severe form of the defect. However after surgery, they can live normal lives with careful control of infection, bladder emptying through self-catheterization and further surgical corrections as necessary. Sexual function will vary depending on the involvement of the reproductive organs.

Children will require careful follow-up for high blood pressure, kidney function, infections and overall growth and well-being. They will require visits to urologists and possibly to nephrologists if kidney function is a concern.

Children should be taught simple information about their condition and treatment, using terms that children can understand. Books and dolls can help children understand how their bodies work. They should be encouraged to ask questions about their bodies and the treatments and tests. Children do not need a great deal of detailed information but rather they require reassurance and explanations that are tailored to their age and understanding.

They need to be helped to understand that blood tests and uncomfortable procedures are necessary to help them feel better, even though they experience temporary pain or discomfort. Play therapy can assist young children to express their fears and feelings and can reveal misunderstandings they may have about their condition or treatment.

The trauma to children of having major surgical procedures needs to be considered, and parents will need support and guidance to allow the child to develop independence and self-confidence. Because this is generally a hidden condition it may be difficult for children's self-esteem as they may feel different and have special health care needs that are not apparent to others.

For more information, including resources for parents and general information about Bladder extrophy, visit the following websites: