Bladder Exstrophy: Causes, Symptoms & Treatment

What Is Bladder Exstrophy?

Bladder exstrophy is a complex congenital anomaly characterised by an inside-out bladder that protrudes through an opening in the lower abdominal wall. In this condition, the bladder fails to develop normally and is unable to store urine effectively. The urethra, the tube that carries urine from the bladder to the outside of the body, may also be malformed or split into two parts.

According to the Urology Care Foundation, bladder exstrophy occurs in approximately 1 in every 50,000 live births, with males being slightly more affected than females.

How Bladder Exstrophy Affects the Body

Bladder exstrophy impacts both the structure and function of the body. The exposed bladder, separation of the pubic bones, and abnormalities in the pelvic region disrupt the normal position and function of the urinary system and sometimes reproductive organs. Children with bladder exstrophy are unable to store urine, resulting in urinary incontinence and an increased risk of infection or damage to the pelvic organs.

Causes of Bladder Exstrophy

While the exact cause of bladder exstrophy remains unknown, researchers believe that a combination of genetic and environmental factors may contribute to its development during foetal growth. The abnormal formation of the lower abdominal wall and bladder occurs early in pregnancy, typically between 4 to 10 weeks of gestation.

Genetic Factors

Studies suggest that genetic factors may play a role in the development of bladder exstrophy. Having a family history of this condition increases the risk, with a 1 in 70 chance for a child if one of the parents has bladder exstrophy. While bladder exstrophy is more common in males and sometimes runs in families, most cases occur sporadically without a clear genetic link.

Environmental Factors

• The use of assisted reproductive technologies, such as in vitro fertilisation (IVF), may slightly increase the risk of bladder exstrophy.
• Certain factors during early pregnancy that disrupt normal tissue development may contribute to the condition.
• No direct correlation has been established between the actions or exposures of the mother during pregnancy and the occurrence of bladder exstrophy.

Risk Factors for Bladder Exstrophy

• Family history of bladder exstrophy
• Male sex (more common in boys)
• Firstborn child
• Caucasian race
• Assisted reproductive technology (IVF, etc.)

Types of Bladder Exstrophy Complex (BEC)

• Classic bladder exstrophy: The bladder is exposed and turned inside out.
• Epispadias: The urethra develops abnormally and opens on the top of the penis or near the clitoris.
• Cloacal exstrophy: The most severe form, involving the bladder, bowel, genitals, and pelvic organs.

Classic Bladder Exstrophy

Classic bladder exstrophy is characterised by an open, inside-out bladder protruding through a defect in the lower abdominal wall. The pubic bones are widely separated, and the external genitalia appear abnormal. Urine continuously drips from the exposed bladder, leading to skin irritation and an increased risk of urinary tract infections.

Epispadias

Epispadias is a milder variant of the bladder exstrophy complex, where the urethra develops abnormally and opens on the top side of the penis in males or near the clitoris in females. This condition may occur in isolation or in association with classic bladder exstrophy. Epispadias can cause urinary incontinence and abnormal genital appearance, but the bladder itself is typically not exposed.

Cloacal Exstrophy

Cloacal exstrophy is the most severe and complex form of the bladder exstrophy spectrum. In this condition, the bladder, intestines, and reproductive organs are all exposed and split in the middle, often forming two halves on the surface of the abdomen. This form of exstrophy requires extensive surgical reconstruction and multidisciplinary care.

Symptoms of Bladder Exstrophy

Visible Symptoms

• Exposed bladder through the abdominal wall
• Abnormal external genitalia
• Widely spaced pelvic bones
• Lower than usual position of the belly button or anus

Functional Symptoms

• Inability to store urine, resulting in total incontinence
• Increased risk of urinary tract infections
• Potential kidney damage if left untreated
• Difficulties with sexual function and fertility in adulthood

Complications of Bladder Exstrophy

• Urinary incontinence often requires multiple surgeries and ongoing management.
• Recurrent urinary tract infections may lead to kidney damage if left untreated.
• Kidney damage or failure, particularly if urinary tract infections are not promptly addressed.
• Increased risk of bladder cancer later in life necessitates regular monitoring.
• Sexual dysfunction and fertility issues depend on the severity of genital abnormalities.
• Pelvic bone abnormalities, such as hip dysplasia or gait problems.
• High-risk pregnancies for affected females, due to anatomical changes in the pelvic region.

How Bladder Exstrophy Is Diagnosed

1. Physical examination at birth: The exposed bladder and other characteristic features are visually apparent upon delivery.
2. Imaging studies: Ultrasound, X-rays, and MRI scans help assess the extent of organ involvement and guide treatment planning.
3. Genetic and renal function tests: These tests evaluate any underlying genetic abnormalities and assess kidney health.

Prenatal Diagnosis

• Ultrasound may detect abnormalities in the bladder and abdominal wall structure during pregnancy.
• Foetal MRI can provide more detailed imaging of the developing foetus.
• Not all cases of bladder exstrophy are detected prenatally, and diagnosis is often made at birth.

Postnatal Diagnosis

• Physical examination immediately after birth reveals the presence of bladder exstrophy.
• Further imaging and tests are performed to confirm the anatomical details and rule out associated malformations.
• Assessment for related defects, such as epispadias or cloacal exstrophy, is crucial for comprehensive care.

Treatment for Bladder Exstrophy

• Surgical repair (primary closure): The initial surgery aims to close the bladder and abdominal wall.
• Epispadias repair: Reconstructive surgery to restructure the urethra and genitalia.
• Bladder neck reconstruction: A procedure to improve urinary continence.
• Follow-up care: Regular monitoring of kidney and bladder function and addressing any complications.

Initial Surgery (Closure Surgery)

1. Closure of the bladder and abdominal wall is typically performed soon after birth.
2. Realignment of the pelvic bones and organs is done during the initial surgery.
3. Genital and urethral reconstruction may be performed simultaneously if needed.

Epispadias Repair

Epispadias repair involves surgical correction of the abnormal opening of the urethra and reconstruction of the external genitalia. In males, the goal is to create a functional penis with a properly positioned urethral opening. In females, the surgery aims to reconstruct the clitoris and labia to improve anatomy and urinary control.

Bladder Neck Reconstruction

Bladder neck reconstruction is a surgical procedure designed to improve urinary continence by strengthening the bladder neck, the muscular valve that controls the flow of urine from the bladder. This surgery is typically performed after the initial closure has healed and the child has grown older, usually between 4 and 6 years of age. The goal is to create a functional bladder neck that can hold urine and prevent leakage, enabling the child to achieve social continence.

Additional Treatments

• Urinary diversion procedures may be necessary if the bladder is too small.
• Pelvic bone surgery can help improve stability and function.
• Close monitoring and prompt treatment of urinary infections are essential.
• Supportive care for sexual and reproductive health is provided as the child grows.

Long-Term Care and Management

• Regular follow-up with a multidisciplinary team, including urology, nephrology, orthopaedics, and psychology.
• Monitoring of kidney and bladder function through periodic tests and imaging.
• Support for sexual and reproductive health, including fertility counselling.
• Physical therapy to optimise pelvic and lower limb function.
• Psychosocial support and counselling for affected children and their families.

Living with Bladder Exstrophy

With coordinated multidisciplinary care, most children with bladder exstrophy can achieve urinary continence, maintain normal kidney function, and enjoy a good quality of life. Early and staged surgical interventions, ongoing medical follow-up, and psychosocial support are crucial in managing overall health, self-esteem, and social integration.

As children with bladder exstrophy grow, they may face challenges related to body image, relationships, and sexual function. However, with the right support and care, they can navigate these issues and lead fulfilling lives.

When to See a Doctor

• At birth, if any bladder or genital abnormalities are noticed.
• If the child experiences difficulty with urination or incontinence.
• If signs of urinary infection, fever, or kidney issues develop.
• For scheduled follow-up visits after surgery or if new symptoms appear.

Prevention and Genetic Counselling

Currently, there is no known way to prevent bladder exstrophy. However, families with a history of this condition may benefit from genetic counselling. A genetic counsellor can clarify the recurrence risk and guide future pregnancies. Early prenatal care and ultrasound screening can aid in the early detection of bladder exstrophy, allowing for better preparation and timely treatment.

Conclusion

Bladder exstrophy is a rare congenital condition that affects the development of the bladder and surrounding pelvic organs. While the diagnosis can be overwhelming for families, it is essential to remember that early intervention, comprehensive treatment, and ongoing multidisciplinary care can significantly improve the quality of life for affected children. With the right support and management, most children with bladder exstrophy can achieve urinary continence, maintain healthy kidney function, and lead fulfilling lives.

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FAQs

1. Is bladder exstrophy life-threatening?

Bladder exstrophy is not usually life-threatening if treated promptly with surgery. However, it can lead to serious complications if left untreated. These complications may include urinary tract infections, kidney damage, and bladder cancer.

2. Can bladder exstrophy be detected during pregnancy?

Yes, an advanced prenatal ultrasound or foetal MRI may detect bladder exstrophy before birth. However, many cases are not diagnosed until after delivery, as not all abnormalities are easily visible on prenatal scans.

3. Will my child need multiple surgeries?

Most children with bladder exstrophy require several staged surgeries for bladder closure, reconstruction, and achieving continence. The number and timing of surgeries depend on the individual case and the specific type of bladder exstrophy.

4. Can a child with bladder exstrophy live a normal life?

With timely surgical intervention and comprehensive long-term care, most children with bladder exstrophy can lead healthy, active lives. They can achieve normal growth, participate in social activities, and have the potential for satisfactory sexual and reproductive function.

5. What causes bladder exstrophy?

The exact cause of bladder exstrophy remains unknown. However, researchers believe that a combination of genetic factors and abnormal foetal development during early pregnancy plays a key role in the occurrence of this congenital condition.

References

• https://www.urologyhealth.org/urology-a-z/b/bladder-exstrophy
• https://my.clevelandclinic.org/health/diseases/21806-bladder-exstrophy
• https://www.ncbi.nlm.nih.gov/books/NBK563156/
• https://www.hopkinsmedicine.org/health/conditions-and-diseases/bladder-exstrophy