Bladder Exstrophy: Causes, Symptoms, and Treatment Options

Introduction

Bladder exstrophy is a rare congenital condition that affects the bladder and surrounding structures. It occurs when the bladder develops outside the body, leading to complications that impact urinary function, kidney health, and overall quality of life. Typically diagnosed at birth, early intervention is essential for managing symptoms and improving long-term outcomes. Bladder exstrophy has been recognized for centuries, with surgical treatments evolving significantly to enhance patient care. This article provides a comprehensive overview of bladder exstrophy, including its risk factors, symptoms, diagnostic tests, treatment options, and home care strategies. By understanding this condition, patients and their families can make informed decisions about care and treatment.

Definition of Bladder Exstrophy

Bladder exstrophy is a congenital condition where the bladder forms outside the body, leading to complications such as urinary incontinence, infections, and kidney damage. This article will cover risk factors, symptoms, diagnostic tests, medications, surgical procedures, and home care strategies to help manage bladder exstrophy.

Description of Bladder Exstrophy

Bladder exstrophy is a rare birth defect that occurs when the bladder and parts of the urinary tract do not form properly during fetal development. In this condition, the bladder is exposed outside the body, and the abdominal wall remains open. This can lead to complications such as difficulty controlling urine, frequent urinary tract infections, and potential kidney damage over time. Bladder exstrophy is part of the “exstrophy-epispadias complex,” which can also affect the genitalia and pelvic bones.

The progression of bladder exstrophy varies depending on the severity and timing of treatment. Without intervention, patients may experience chronic urinary incontinence, recurrent infections, and kidney damage. However, early surgical intervention can improve bladder function and quality of life.

Bladder exstrophy is rare, affecting approximately 1 in 30,000 to 50,000 live births. It is more common in males than females, with a male-to-female ratio of about 2:1. While the exact cause is not fully understood, it is believed to result from a combination of genetic and environmental factors that disrupt normal fetal development.

Risk Factors for Developing Bladder Exstrophy

Lifestyle Risk Factors

Bladder exstrophy is congenital, meaning it is present at birth. While no specific lifestyle factors directly cause bladder exstrophy, certain environmental exposures during pregnancy may increase the risk of congenital abnormalities, including bladder exstrophy. For example, maternal exposure to certain chemicals, medications, or infections during pregnancy may increase the risk of fetal developmental issues. Additionally, maternal smoking, alcohol use, or poor nutrition during pregnancy may contribute to an increased risk of birth defects, although these factors are not directly linked to bladder exstrophy.

Medical Risk Factors

No specific medical conditions directly cause bladder exstrophy, but certain factors may increase the likelihood of having a child with this condition. Women who have had previous pregnancies affected by bladder exstrophy or other congenital abnormalities may be at higher risk of having another child with the condition. Additionally, maternal health conditions like diabetes or obesity may increase the risk of birth defects, including bladder exstrophy. It is important for women with these conditions to work closely with healthcare providers during pregnancy to manage their health and reduce the risk of complications.

Genetic and Age-Related Risk Factors

Genetics play a role in the development of bladder exstrophy, although the exact genetic mechanisms are not fully understood. In some cases, bladder exstrophy may run in families, suggesting a hereditary component. Parents who have had a child with bladder exstrophy may have a slightly increased risk of having another child with the condition, though this risk remains relatively low. Additionally, advanced maternal age (over 35 years) has been associated with an increased risk of certain congenital abnormalities, including bladder exstrophy. However, the overall risk remains low, and most children born to older mothers do not have birth defects.

Clinical Manifestations of Bladder Exstrophy

Urinary Incontinence

Urinary incontinence, or the inability to control urination, is present in nearly all patients with bladder exstrophy. This occurs because the bladder is exposed and lacks the normal muscle and nerve structures required for proper urine storage and release. The bladder is often smaller and cannot hold urine, leading to continuous leakage. Surgical intervention may help restore some degree of continence, but this remains a major concern for individuals with bladder exstrophy.

Abdominal Wall Defect

An abdominal wall defect is present in all cases of bladder exstrophy. This defect occurs because the lower abdominal wall does not close properly during fetal development, leaving the bladder and sometimes parts of the intestines exposed outside the body. This condition is usually visible at birth and requires surgical correction to protect internal organs and improve the patient’s quality of life.

Pelvic Bone Abnormalities

Pelvic bone abnormalities occur in about 90% of bladder exstrophy patients. These abnormalities include a separation of the pubic bones, which are normally fused together. This separation can affect pelvic stability and may lead to difficulties with walking or other physical activities. In some cases, orthopedic surgery may be needed to correct these abnormalities and improve mobility.

Bladder Dysfunction

Bladder dysfunction is present in nearly all individuals with bladder exstrophy. The bladder is often smaller than normal and lacks the muscle tone needed to store urine. This can lead to frequent urination, incomplete emptying of the bladder, and an increased risk of urinary tract infections (UTIs). Surgical reconstruction of the bladder may be necessary to improve its function and reduce complications.

Urinary Tract Infections (UTIs)

Urinary tract infections are common in bladder exstrophy patients, with an estimated 50-70% experiencing recurrent infections. The abnormal structure of the bladder and urinary tract makes it easier for bacteria to enter and multiply, leading to infections. Symptoms of UTIs include pain during urination, frequent urination, and fever. Preventive measures, such as regular catheterization or surgery, may be recommended to reduce the risk of infections.

Skin Irritation

Skin irritation occurs in about 80% of patients with bladder exstrophy due to constant exposure to urine. The skin around the bladder and genital area can become red, sore, and prone to infections. Proper skin care, including frequent cleaning and the use of barrier creams, is essential to prevent irritation and maintain skin health.

Genital Abnormalities

Genital abnormalities are present in nearly all cases of bladder exstrophy. In males, this often includes epispadias, where the urethra opens on the upper surface of the penis rather than at the tip. In females, the clitoris may be split, and the vaginal opening may be abnormally positioned. These abnormalities can affect sexual function and fertility, and surgical correction may be necessary to improve both appearance and function.

Renal Anomalies

Renal anomalies, or abnormalities in the kidneys, occur in about 30-40% of bladder exstrophy patients. These can include kidney malformations or issues with kidney function. Since the kidneys play a crucial role in filtering waste from the blood, any abnormalities can lead to long-term health problems, including chronic kidney disease. Regular monitoring of kidney function is important for managing these complications.

Difficulty with Urination

Difficulty with urination is common in bladder exstrophy patients due to the abnormal structure of the bladder and urinary tract. This can include problems starting urination, incomplete emptying of the bladder, or a weak urine stream. These issues can increase the risk of urinary retention and infections. Surgical interventions may be necessary to improve urinary function and reduce complications.

Recurrent Urinary Issues

Recurrent urinary issues, such as frequent urination, urinary retention, and infections, are common in bladder exstrophy patients. These problems are often related to the abnormal structure of the bladder and urinary tract. Long-term management may include regular catheterization, medications, or surgery to improve bladder function and reduce the risk of complications.

Diagnostic Evaluation of Bladder Exstrophy

The diagnosis of bladder exstrophy is typically made at birth due to the visible nature of the condition. The exposed bladder and abdominal wall defect are usually apparent, and further diagnostic tests are used to assess the extent of the abnormalities and plan for treatment. In some cases, bladder exstrophy may be detected during prenatal ultrasounds. Diagnostic tests are essential for evaluating the severity of the condition and identifying any associated complications, such as kidney or pelvic bone abnormalities.

Ultrasound

Test Information

An ultrasound is a non-invasive imaging test that uses sound waves to create pictures of the inside of the body. For bladder exstrophy, an ultrasound is often performed to assess the kidneys, bladder, and other organs in the urinary system. This test is important because it helps doctors evaluate the size and function of the kidneys and bladder, as well as identify any associated abnormalities, such as kidney malformations or hydronephrosis (swelling of the kidneys due to urine buildup).

Results that Indicate Bladder Exstrophy

In bladder exstrophy, an ultrasound may show an absent or abnormally small bladder, as well as abnormalities in the kidneys or ureters (the tubes that carry urine from the kidneys to the bladder). If the ultrasound shows these findings, it can confirm the diagnosis of bladder exstrophy and help guide treatment planning. If the ultrasound results are normal but symptoms persist, further testing may be needed to rule out other conditions.

X-ray

Test Information

An X-ray is an imaging test that uses a small amount of radiation to create pictures of the bones and organs inside the body. In bladder exstrophy, X-rays are often used to evaluate the pelvic bones, which are typically separated in patients with this condition. This test is important because it helps doctors assess the extent of the pelvic bone abnormalities and plan for any necessary surgical interventions.

Results that Indicate Bladder Exstrophy

In bladder exstrophy, an X-ray may show a separation of the pubic bones, which is a hallmark of the condition. This finding, along with the visible bladder and abdominal wall defect, can confirm the diagnosis. If the X-ray results are normal but symptoms persist, other imaging tests, such as an MRI or CT scan, may be needed to further evaluate the condition.

MRI

Test Information

An MRI (magnetic resonance imaging) is a non-invasive imaging test that uses powerful magnets and radio waves to create detailed pictures of the inside of the body. For bladder exstrophy, an MRI may be used to evaluate the bladder, pelvic bones, and surrounding organs. This test is important because it provides detailed images that can help doctors assess the severity of the condition and plan for surgical correction.

Results that Indicate Bladder Exstrophy

In bladder exstrophy, an MRI may show an exposed or abnormally small bladder, as well as abnormalities in the pelvic bones and surrounding tissues. These findings can confirm the diagnosis and help guide treatment planning. If the MRI results are normal but symptoms persist, further testing may be needed to rule out other conditions.

CT Scan

Test Information

A CT scan (computed tomography) is an imaging test that uses X-rays and computer technology to create detailed cross-sectional images of the body. For bladder exstrophy, a CT scan may be used to evaluate the bladder, kidneys, and pelvic bones. This test is important because it provides detailed images that can help doctors assess the extent of the abnormalities and plan for surgical correction.

Results that Indicate Bladder Exstrophy

In bladder exstrophy, a CT scan may show an exposed or abnormally small bladder, as well as abnormalities in the kidneys and pelvic bones. These findings can confirm the diagnosis and help guide treatment planning. If the CT scan results are normal but symptoms persist, further testing may be needed to rule out other conditions.

Cystoscopy

Test Information

A cystoscopy is a procedure that allows doctors to look inside the bladder and urethra using a thin, flexible tube with a camera on the end. This test is important for bladder exstrophy because it allows doctors to directly visualize the inside of the bladder and assess its structure and function. Cystoscopy can also help identify any associated abnormalities, such as urethral strictures (narrowing of the urethra) or bladder stones.

Results that Indicate Bladder Exstrophy

In bladder exstrophy, a cystoscopy may show an abnormally small or exposed bladder, as well as abnormalities in the urethra. These findings can confirm the diagnosis and help guide treatment planning. If the cystoscopy results are normal but symptoms persist, further testing may be needed to rule out other conditions.

Urinalysis

Test Information

Urinalysis is a simple test that examines a urine sample for signs of infection, blood, or other abnormalities. For bladder exstrophy, urinalysis is important because it can help detect urinary tract infections (UTIs), which are common in patients with this condition. The test can also provide information about kidney function and the presence of any other urinary abnormalities.

Results that Indicate Bladder Exstrophy

In bladder exstrophy, urinalysis may show signs of a urinary tract infection, such as the presence of bacteria, white blood cells, or blood in the urine. These findings can help guide treatment, such as antibiotics for infections. If the urinalysis results are normal but symptoms persist, further testing may be needed to rule out other conditions.

Voiding Cystourethrogram (VCUG)

Test Information

A voiding cystourethrogram (VCUG) is an imaging test that uses X-rays to visualize the bladder and urethra while the patient urinates. This test is important for bladder exstrophy because it allows doctors to assess how well the bladder empties and whether there is any reflux of urine back into the kidneys (vesicoureteral reflux), which can increase the risk of kidney damage.

Results that Indicate Bladder Exstrophy

In bladder exstrophy, a VCUG may show an abnormally small bladder, incomplete emptying of the bladder, or vesicoureteral reflux. These findings can confirm the diagnosis and help guide treatment planning. If the VCUG results are normal but symptoms persist, further testing may be needed to rule out other conditions.

Renal Function Tests

Test Information

Renal function tests are blood tests that measure how well the kidneys are working. These tests are important for bladder exstrophy because kidney function can be affected by the abnormal structure of the urinary system. Renal function tests typically measure levels of creatinine and blood urea nitrogen (BUN), which are waste products filtered by the kidneys.

Results that Indicate Bladder Exstrophy

In bladder exstrophy, renal function tests may show elevated levels of creatinine or BUN, indicating that the kidneys are not working properly. These findings can help guide treatment, such as medications or surgery to improve kidney function. If the renal function test results are normal but symptoms persist, further testing may be needed to rule out other conditions.

What if All Tests are Negative but Symptoms Persist?

If all diagnostic tests come back negative but symptoms of bladder exstrophy persist, it is important to continue working with your healthcare provider to explore other potential causes of your symptoms. Additional tests or referrals to specialists, such as a urologist or nephrologist, may be necessary. In some cases, symptoms may be related to other conditions that affect the urinary system, and further evaluation is needed to determine the best course of treatment.

Treatment Options for Bladder Exstrophy

Medications for Bladder Exstrophy

Antibiotics

Antibiotics are commonly prescribed to treat bacterial infections and are often used in bladder exstrophy patients to prevent or manage urinary tract infections (UTIs), which are more frequent due to the abnormal urinary anatomy.

They may be prescribed short-term for active infections or long-term as a preventive measure, especially after surgery, depending on the patient’s risk of recurrent infections.

Patients typically experience relief from infection symptoms, such as pain or fever, within a few days of starting antibiotics. Long-term use can help reduce the risk of future infections.

Anticholinergics

Anticholinergics work by relaxing the bladder muscles, helping to manage bladder spasms and improve bladder capacity, which can be a concern for bladder exstrophy patients.

These medications are often prescribed after bladder reconstruction surgery to enhance bladder function, particularly for patients experiencing frequent urination or incontinence.

Patients may notice improved bladder control within a few weeks, with fewer episodes of incontinence.

Pain Relievers

Pain relievers, such as acetaminophen or ibuprofen, are used to manage discomfort, particularly after surgical procedures related to bladder exstrophy.

These medications are typically used short-term post-surgery or during pain flare-ups. Over-the-counter options may be sufficient for mild pain, while stronger prescriptions may be necessary for more severe cases.

Pain relief is usually felt within an hour of taking the medication, and regular use can effectively manage post-surgical discomfort.

Hormonal Therapy

Hormonal therapy may be used to support the development of the urinary and reproductive systems, particularly in children with bladder exstrophy.

This treatment is considered when there are concerns about delayed or abnormal genital development and is often used alongside surgical interventions.

Hormonal therapy can promote reproductive organ development over time, though noticeable effects may take several months.

Antispasmodics

Antispasmodics help reduce bladder muscle spasms, which can occur after surgery or due to the abnormal bladder structure in exstrophy patients.

These medications are prescribed for frequent bladder spasms, which can cause discomfort and incontinence, and are often used alongside anticholinergics.

Patients may experience relief from spasms within a few days, leading to better bladder control.

Diuretics

Diuretics, or “water pills,” help the body eliminate excess fluid by increasing urine production. They may be used in bladder exstrophy patients who experience swelling or fluid retention.

Diuretics are typically prescribed to reduce fluid buildup, which can occur post-surgery or due to kidney issues. They are not a first-line treatment but may be necessary in specific cases.

Patients can expect a reduction in swelling and fluid retention within a few days of starting diuretics.

Topical Ointments

Topical ointments protect the skin around the bladder and genital area, which can become irritated due to urine exposure in bladder exstrophy patients.

These ointments are applied to prevent irritation and infection, especially in infants and young children who have not yet undergone surgery.

Regular use can help maintain healthy skin and reduce the risk of infection or irritation.

Prostaglandins

Prostaglandins improve blood flow and reduce inflammation. In bladder exstrophy, they may support healing after surgery or help manage complications related to blood flow.

These medications are typically used in advanced cases or when healing concerns arise post-surgery. They are not a first-line treatment but may be considered in specific situations.

Patients may notice improved healing and reduced inflammation within a few weeks of starting prostaglandins.

Alpha-blockers

Alpha-blockers relax the muscles in the bladder neck and prostate, making urination easier. They may be used in bladder exstrophy patients who have difficulty emptying their bladder.

These medications are prescribed for urinary retention or difficulty urinating and are often used alongside other treatments to improve bladder function.

Patients can expect improved urination within a few days of starting alpha-blockers.

Beta-agonists

Beta-agonists relax bladder muscles, allowing the bladder to hold more urine. They are used to manage overactive bladder symptoms in bladder exstrophy patients.

These medications are prescribed for frequent urination or incontinence and are often used alongside anticholinergics.

Patients may notice improved bladder control within a few weeks of starting beta-agonists.

Bladder Exstrophy Surgery and Procedures

Bladder Closure Surgery

Bladder closure surgery involves closing the bladder and abdominal wall to create a more typical anatomy. This is a crucial procedure for bladder exstrophy patients.

Typically performed in infancy, shortly after birth, this surgery corrects the exposed bladder and is often the first major step in treating bladder exstrophy.

Bladder closure significantly improves the patient’s quality of life by protecting the bladder and allowing for more normal urinary function over time.

Bladder Augmentation Surgery

Bladder augmentation increases bladder size, allowing it to hold more urine. This procedure is often necessary for bladder exstrophy patients with a small or underdeveloped bladder.

Usually performed later in childhood or adolescence, after initial bladder closure surgery, it is used when the bladder cannot hold an adequate amount of urine.

Bladder augmentation improves urinary continence and reduces the frequency of urination, enhancing the patient’s quality of life.

Epispadias Repair

Epispadias repair corrects the abnormal positioning of the urethra, often associated with bladder exstrophy. This surgery improves urinary function and appearance.

Typically performed in infancy or early childhood, often alongside bladder closure surgery, it is essential for improving urinary control and genital appearance.

Patients can expect better urinary function and a more typical genital appearance after epispadias repair.

Urethral Reconstruction Surgery

Urethral reconstruction rebuilds the urethra, which may be underdeveloped or damaged in bladder exstrophy patients. This surgery improves urinary control and flow.

Typically performed in childhood or adolescence, depending on the severity of the urethral abnormality, it may be done alongside other surgeries, such as bladder augmentation.

Patients can expect improved urinary control and a more normal urine flow after urethral reconstruction.

Improving Bladder Exstrophy and Seeking Medical Help

While medical treatments and surgeries are essential for managing bladder exstrophy, several home remedies and lifestyle adjustments can help improve symptoms and overall quality of life:

1. Avoiding Irritants: Certain foods and drinks, such as caffeine, alcohol, and spicy foods, can irritate the bladder. Avoiding these can reduce bladder discomfort and improve urinary control.
2. Maintaining Hydration: Drinking plenty of water helps flush the urinary system and reduces the risk of infections.
3. Regular Follow-ups: Regular check-ups with your healthcare provider are essential for monitoring bladder function and catching complications early.
4. Skin Care: Keeping the skin around the bladder and genital area clean and dry helps prevent irritation and infection, especially in young children.
5. Dietary Adjustments: A balanced diet rich in fiber helps prevent constipation, which can put pressure on the bladder and worsen symptoms.

Telemedicine offers a convenient way to manage bladder exstrophy, allowing patients to consult healthcare providers from home. This is particularly helpful for regular follow-ups and discussing concerns about symptoms or treatment options.

Living with Bladder Exstrophy: Tips for Better Quality of Life

Living with bladder exstrophy can be challenging, but several strategies can help improve your quality of life:

1. Stay Informed: Understanding your condition and treatment options helps you make informed decisions about your care.
2. Build a Support System: Connecting with others who have bladder exstrophy, either in person or online, provides emotional support and practical advice.
3. Follow Your Treatment Plan: Adhering to prescribed medications and attending regular follow-ups helps prevent complications and improve symptoms.
4. Practice Good Hygiene: Keeping the bladder and genital area clean helps prevent infections and skin irritation.
5. Communicate with Your Healthcare Provider: Reach out to your healthcare provider if you have concerns about your symptoms or treatment plan.

Conclusion

Bladder exstrophy is a complex congenital condition requiring a combination of medical treatments, surgeries, and lifestyle adjustments for effective management. Early diagnosis and treatment are crucial for improving outcomes and preventing complications.

If you or a loved one is living with bladder exstrophy, our telemedicine practice is here to help. We offer convenient, compassionate care from the comfort of your home, ensuring you receive the support and guidance needed to manage your condition. Reach out to us today to schedule a consultation and take the first step toward better bladder health.

James Kingsley

Learn More