Bladder Exstrophy – Symptoms and Causes

Overview

Bladder exstrophy is a rare birth defect where a baby’s bladder forms outside the abdomen during pregnancy. In this condition, the exposed bladder cannot properly store urine, causing the newborn to leak urine.

The condition affects more than just the bladder. It can impact:

• Genitals
• Abdominal muscles
• Pelvic bones
• Intestines
• Reproductive organs

Doctors don’t fully understand what causes bladder exstrophy, but they believe genetic factors may play a role in its development.

Sometimes doctors can detect this condition during pregnancy through routine ultrasound screenings. However, in many cases, the condition isn’t discovered until after birth.

Treatment for bladder exstrophy requires surgery. Doctors need to close the bladder and repair other affected body parts. These surgical procedures help restore normal function and appearance.

Babies born with this condition need specialized care from a team of medical experts who can address all aspects of this complex birth defect.

Symptoms

Bladder exstrophy belongs to a group of birth conditions called bladder exstrophy-epispadias complex (BEEC). These conditions affect how the urinary system, reproductive organs, and sometimes other parts of the body develop.

The symptoms vary based on which type of BEEC a child has.

There are three main types of BEEC, each with different symptoms:

Epispadias

• The mildest form of BEEC
• Incomplete development of the urethra (the tube that carries urine out of the body)
• Affects urination and possibly genital appearance

Bladder Exstrophy

• Bladder forms outside the body
• Bladder is turned inside out
• Affects multiple systems:
  • Urinary system
  • Digestive system
  • Reproductive system
• Changes in the abdominal wall structure
• Abnormal development of genital organs
• Irregular formation of pelvic bones
• Problems with the rectum and anus
• Includes vesicoureteral reflux (urine flows backward from bladder toward kidneys)
• Always includes epispadias

Cloacal Exstrophy

• Most severe form of BEEC
• Both bladder and intestine are exposed outside the body
• Possible absent or improperly formed anus
• Shortened intestine
• Split penis or vagina
• Abnormal pelvic bone formation
• Often affects:
  • Kidneys
  • Backbone
  • Spinal cord
• Frequently occurs with spina bifida
• Visible abdominal organs at birth

The symptoms a child experiences depend on which form of the condition they have. Children with more severe forms, like cloacal exstrophy, typically have more complex symptoms affecting multiple body systems compared to those with milder forms, like isolated epispadias.

Causes

The exact reason why bladder exstrophy occurs remains unknown. However, scientists believe genetic elements may contribute to this condition.

During pregnancy, the lower abdomen of a developing baby is covered by a special tissue called the cloaca. This tissue should eventually be replaced by stomach muscles as development continues.

If the cloaca tissue ruptures before stomach muscles have properly formed, bladder exstrophy can result.

Risk Factors

Several factors can increase the chance of bladder exstrophy:

• Birth Order and Family Links: First children have a higher risk. Having a parent or sibling with this condition also raises the chances.

• Racial Differences: White babies are more likely to be affected than Black or Hispanic babies.

• Gender: Boys develop this condition more often than girls.

• Fertility Treatments: Children conceived through assisted reproductive technologies, such as in vitro fertilization, face an increased risk.

Health Issues

Children who don’t receive surgery for bladder exstrophy cannot control their urine flow. This lack of control means they will leak urine continuously.

Without proper medical care, these children might face problems with sexual function as adults. They also have a higher chance of developing bladder cancer later in life.

Recovery After Procedures

Surgical treatment can reduce many potential problems. The results depend on how severe the condition is. Many children gain bladder control after successful repair.

Young patients may walk with their feet pointing outward because their pelvic bones are separated. This walking pattern typically improves as they get older.

Future Health Concerns

People born with this condition can develop normal sexual function and have children.

However, pregnancy carries higher risks for both the parent who has bladder exstrophy and the baby. Doctors often recommend a planned C-section delivery for safer childbirth.

Important factors affecting long-term outcomes:

• Quality of initial surgical repair
• Ongoing medical care
• Individual anatomical differences
• Treatment timing