What is Bladder Exstrophy?

Bladder exstrophy is a rare congenital abnormality, in which the bladder develops inside out. The condition occurs when the skin and pelvis do not join together appropriately, causing the bladder to push outside the fetus’s abdomen. The abnormality does not allow the bladder to function properly, inhibiting its ability to store urine and causing bladder leakage. Corrective surgery is needed for the bladder to function properly. Treatment has a high success rate without future complications.

This condition is more common in males, but if there is a family history of bladder exstrophy, a baby has a greater likelihood of being born with the condition.

Symptoms

There are several symptoms for bladder exstrophy. These symptoms vary, depending on the type of bladder exstrophy. Bladder exstrophy is one condition in a group of congenital abnormalities known as bladder exstrophy-epispadias complex (BEEC). The other two types within BEEC include:

• Epispadias. This is the least severe form of BEEC. This condition occurs when the baby’s urethra does not develop normally.
• Cloacal exstrophy. This is the most severe form of BEEC. This condition occurs when the genitals, bladder, and rectum do not separate properly.

Symptoms for bladder exstrophy may include:

• The bladder protrudes through the skin of the belly
• The bladder develops inside out
• Urine will flow the wrong way (vesicoureteral reflux)
• Smaller bladder capacity
• Anus that is lower than normal
• Belly button that is lower than normal
• Pelvic bones that are separated
• Undescended testicles
• Abnormal development of the genitals

In some cases, symptoms may include the development of an inguinal or umbilical hernia. Hernias occur when the stomach or intestine linings push through the abdominal wall. Hernias usually require surgery.

Causes

The cause of bladder exstrophy is unknown. It is speculated that genetic and environmental factors play a contributing role in the development of the condition. Ongoing research is being conducted to determine the exact cause of bladder exstrophy.

Diagnosis

Diagnosis may be determined pre-birth by using an ultrasound or MRI if bladder exstrophy is suspected. Imaging tests can detect various symptoms of bladder exstrophy pre-birth. Typically, the diagnosis is made after birth when it is observed that the bladder has developed outside the baby’s body, or when other symptoms of the condition are present.

Risk Factors

There are several different risk factors that may increase the likelihood of developing bladder exstrophy. Risk factors include:

• Family history. Children who are firstborn or have a family member with bladder exstrophy have a greater risk of developing the condition.
• Sex. Males have a higher risk of developing bladder exstrophy.
• Race. White people have a higher risk of developing bladder exstrophy.
• Use of assisted reproduction. Children who are born using assisted reproduction have a greater risk of developing bladder exstrophy.

Treatment

There are two different surgery options for bladder exstrophy. The first option is known as a complete primary repair of exstrophy (CPRE). This option allows doctors to repair everything in one surgery. The second option uses a staged approach. This allows doctors to perform different reconstructive surgeries over time, or in different stages. This option is known as modern staged repair of bladder exstrophy (MSRE). These surgeries can be performed from shortly after birth to the age of 4-5 years. Your doctor will consult with you to determine the best option for surgery. This is usually determined by the severity of the condition.

CPRE

Complete primary repair of exstrophy (CPRE) can be done between 72 hours after birth but is most commonly performed at 6-12 weeks after birth. This reconstructive surgery seeks to correct congenital abnormalities that disrupt or inhibit bladder and sexual functioning. The main goals of the surgery include:

• Moving the bladder back inside the body
• Reconstructing genitalia and fixing epispadias
• Closing the pelvic bones
• Reconstructing the bladder neck

MRSE

Modern staged repair of bladder exstrophy is another option doctors recommend. This type of surgery takes a staged approach and separates the reconstructive surgery into 3 different surgeries, sometimes over the course of 4-5 years. The 3 surgeries include:

• Soon after birth, surgery is performed to close the bladder inside the abdomen.
• Between 6 and 9 months, surgery is performed to reconstruct and repair the urethra and sex organs.
• Anywhere between shortly after birth and 5 years, surgery is performed to reconstruct the bladder neck.

Prevention

Without a known cause for bladder exstrophy, it is hard to determine preventative measures. However, if there is a known family history of bladder exstrophy, consult with your doctor about potential testing and treatment plans.

Complications

Children who do not receive treatment for bladder exstrophy are at greater risk of experiencing long-term complications, such as urinary incontinence, sexual dysfunction, and bladder cancer. Although recovery rates are highly successful after surgery, some children may walk with their legs turned slightly outward because of the separation of the pelvis. Additionally, although surgery is typically successful and corrects any urinary and sexual functioning, there is a higher risk for complications in pregnancy for both mother and child. Usually, there needs to be a planned cesarean section. Additional complications that may follow surgery include:

• Some issues with urinary incontinence
• Hydronephrosis (swelling of the kidneys due to buildup of urine)
• Urinary tract infections
• Renal scarring