Overview

Bladder exstrophy (EK-stroh-fee) is a rare birth defect in which the bladder develops outside the fetus. The condition is more common in males than in females. The exposed bladder and urethra — the tube that expels urine — result in the bladder being unable to store urine.

Bladder exstrophy is the most common of a larger group of birth defects called the bladder exstrophy-epispadias (EK-stroh-fee-ep-ih-SPAY-dee-us) complex (BEEC). Defects resulting from this complex range from mild to severe. Bladder exstrophy itself also has a range of severity and, in addition to the abnormalities in the bladder, genitals and pelvic bones, may include defects in the intestines and reproductive organs.

Often doctors will identify bladder exstrophy on an ultrasound during pregnancy. Sometimes, though, the defect isn't visible until after the baby is born.

Surgeons treat bladder exstrophy after birth. Surgical repair is usually done at age 3 months or later. Sometimes two or more procedures are needed. Some children require additional surgery around age 4.

With surgery, and sometimes with medication, many children achieve bladder control (continence).

Source: http://www.mayoclinic.com

Symptoms

Bladder exstrophy is the most common of a larger group of birth defects called the bladder exstrophy-epispadias complex (BEEC). As the fetus grows, a structure called the cloaca (klo-AY-kuh) — where reproductive, urinary and digestive openings all come together — does not develop properly. The resulting defects can range greatly in severity depending on the age of the fetus when the developmental error occurs. If your child has BEEC, he or she will have one of the following:

• Epispadias. This is the least severe form of BEEC, in which the tube to expel urine (urethra) does not fully develop.

• Bladder exstrophy. This is the most common form of BEEC. Bladder exstrophy means that the bladder is formed on the outside of the body and is turned inside out. Usually bladder exstrophy will involve organs of the urinary tract, as well as the digestive and reproductive systems. The condition can include specific defects of the abdominal wall, bladder, genitals, pelvic bones, final section of the large intestine (rectum) and opening at the end of the rectum (anus).

  Children with bladder exstrophy will also have a condition called vesicoureteral reflux, in which urine flows the wrong way — from the bladder back up into the tubes that connect to the kidneys (ureters). Children with bladder exstrophy also have epispadias.

  These defects are treated through surgical procedures that repair the affected organs, muscles and bones.

• Cloacal exstrophy. Cloacal exstrophy (KLOA-kul EK-stroh-fee) is the most serious form of BEEC, in which the rectum, bladder and genitals did not fully separate as the fetus developed. These organs may not be correctly formed. The pelvic bones are more severely affected as well. The backbone and spinal cord may be affected, as well as the kidneys.

  Children born with protruding abdominal organs (omphalocele) likely have cloacal exstrophy. However, an omphalocele (OM-fuh-loh-seel) may occasionally be associated with bladder exstrophy as well. Most children with cloacal exstrophy have spinal abnormalities, including spina bifida.

Source: http://www.mayoclinic.com

Causes

Doctors aren't sure what causes bladder exstrophy. As with similar problems, it appears to result from a combination of genetic and environmental risk factors.

• Genetic factors. Recent studies indicate that the master control gene ISL1 is probably a susceptibility gene for bladder exstrophy. A susceptibility gene is one that is likely the cause of a specific disease or disorder. This gene is also important in regulating urinary tract development.
• Environmental factors. Some research suggests associations with the age of the mother, assisted reproduction, use of the hormone progesterone during pregnancy and smoking during pregnancy, but no cause and effect has been determined.

Source: http://www.mayoclinic.com

Diagnosis

Bladder exstrophy is often diagnosed before birth using ultrasound or magnetic resonance imaging (MRI). Signs the doctor will look for in the images include:

• Bladder doesn't fill or empty correctly
• Umbilical cord is placed low on the abdomen
• Pubic bones — part of the hipbones that form the pelvis — are separated
• Smaller than normal genitals

Sometimes the condition can't be seen until after the baby is born. In a newborn, doctors look for:

• Size of the portion of the bladder that is open and exposed to air (bladder template)
• Position of the testicles
• Intestine bulging through the abdominal wall (inguinal hernia)
• Anatomy of the area around the navel
• Position of opening at the end of the rectum (anus)
• How much the pubic bones are separated, and how easily the pelvis moves

Mayo Clinic has a state-of-the-art Fetal Care Center, which helps in the diagnosis and prenatal management of babies with urology abnormalities, including BEEC. The Fetal Care Center has access to some of the most advanced fetal imaging, including high-resolution ultrasound and fetal MRI. Management by the Fetal Care Center also ensures that parents of babies with BEEC meet the entire care team prior to birth.

Source: http://www.mayoclinic.com

Complications

If not treated, children with bladder exstrophy will have an inability to hold urine (urinary incontinence) and an increased risk of bladder cancer. They're also at risk of sexual dysfunction.

Surgical treatment can reduce complications, depending on the severity of defects. Many children who have surgical repair are able to hold urine (continent). Young children with bladder exstrophy may walk with their legs turned somewhat outward, due to the separation of their pelvic bones.

People born with bladder exstrophy can go on to have normal sexual function, including the ability to have children. However, pregnancy will be high risk for both mother and baby. It's possible for pregnant women with bladder exstrophy to choose a vaginal birth, although it may be complicated by the condition of her cervical tissue. A planned cesarean section is likely to be the preferable option.

Coping and support

Having a baby diagnosed with a significant and rare birth defect such as bladder exstrophy can be extremely stressful. Learning that your newborn faces major reconstructive surgery, as well as potential additional surgeries and a chronic health condition, can understandably cause a range of emotions.

Doctors also may not know how successful surgery will be, so you're facing an unknown future for your child. Depending on the surgery's outcome and his or her degree of continence, your child may experience emotional and social challenges. Your child and your family may need the support of a social worker and other behavioral health professionals.

Researchers have studied the cosmetic appearance, body image and psychological well-being of children with bladder exstrophy. But given the complexity and variability of the condition, more investigation is needed. Some doctors recommend that all children with BEEC receive early counseling and that they and their families continue to receive psychological support into adulthood.

You may also benefit from finding a support group of other parents who are dealing with the condition. Talking with others who have had similar experiences and understand the challenges can be helpful.

However, you can feel hopeful that your child has a good chance of living a full, productive life, with work, relationships, and children of his or her own.

Source: http://www.mayoclinic.com

Risk factors

Factors that increase the risk of bladder exstrophy include:

• Family history. Firstborn children, children of a parent with bladder exstrophy or siblings of a child with bladder exstrophy have an increased chance of being born with the condition.
• Race. Bladder exstrophy is more common in whites than in other races.
• Sex. More males than females are born with bladder exstrophy.

Source: http://www.mayoclinic.com