About Bladder Exstrophy

Overview
Bladder exstrophy is a rare birth irregularity where the abdominal wall does not fully form as the bladder is developing. This results in the pubic bones being separated and the bladder being exposed to the outside skin surface. It can also affect the formation and function of other organs, such as the bowels and external genitalia. Without treatment, the bladder may not be able to hold urine properly, and sexual function may be compromised. Bladder exstrophy is more common in males and occurs in approximately 3.3 out of every 1 million live births. The exact cause is unknown. Treatment options are available, and individuals with bladder exstrophy can go on to live healthy lives with appropriate medical care.
Causes and Risk Factors

Bladder exstrophy is a birth defect where the bladder is exposed and located outside of the body. The exact cause of bladder exstrophy is not fully understood, but it is believed to be a combination of genetic and environmental factors. Here are the answers to your questions:

Pathophysiologic causes of Bladder Exstrophy:

  • Genetic mutations: Certain gene mutations can disrupt the normal development of the bladder and surrounding structures, leading to bladder exstrophy.
  • Abnormalities in embryonic development: During early fetal development, errors in the formation of the abdominal wall and pelvic bones can result in bladder exstrophy.

Non-modifiable risk factors of Bladder Exstrophy:

  • Family history: Having a close relative with bladder exstrophy increases the risk.
  • Gender: Males are more commonly affected by bladder exstrophy than females.

Modifiable risk factors of Bladder Exstrophy:

  • There are currently no known modifiable risk factors for bladder exstrophy. It is primarily a result of genetic and developmental factors that are beyond an individual's control.

It's important to note that bladder exstrophy is a complex condition that requires specialized medical care. If you have any concerns or questions about bladder exstrophy, it's best to consult with a healthcare professional who can provide personalized advice and guidance.

Symptoms

Bladder Exstrophy is a congenital condition that affects the development of the bladder and genitalia. The symptoms can vary depending on the stage and severity of the condition. Here are the common symptoms associated with Bladder Exstrophy:

Early Symptoms:

Abnormal bladder development: The bladder may be smaller and not develop properly.

Widened pubic bones: The pelvic bones do not join, causing the hips to rotate outwardly.

Epispadias: The urethra is not fully formed, leading to abnormalities in its opening.

Later Stage or Higher Severity Symptoms:

Vesicoureteral reflux: Urine travels back up the ureters towards the kidneys instead of into the bladder.

Umbilical hernia: Displacement of the belly button, more common in newborns with Bladder Exstrophy.

Abnormal development of genitalia: In males, the penis may appear shorter and curved upward, while in females, the clitoris and labia minora are separated and spread apart.

It's important to note that these symptoms can vary from person to person and may change as the condition progresses. If you suspect you or your child has Bladder Exstrophy, it's best to consult a healthcare professional for an accurate diagnosis and appropriate management plan.

Diagnosis

To diagnose Bladder Exstrophy, health care providers commonly perform the following examinations, tests, and procedures:

Physical exam: The health care provider will look for physical signs of the condition, such as pain, swelling, or abnormalities in the bladder area.

Lab tests: These may include blood draws or urine samples to check for any abnormalities or infections.

Imaging studies: X-rays or MRI scans may be recommended to visualize the bladder and surrounding structures.

Clinical procedures: Depending on the symptoms and findings, additional clinical procedures may be performed, such as a hearing test or other tests specific to the body system being evaluated.

To determine the stage or severity of Bladder Exstrophy, additional examinations, tests, and procedures may include:

Imaging studies: Further imaging studies, such as cystoscopy or urodynamics assessment, can provide more detailed information about the bladder's function and structure.

Grading assessment: The severity of Bladder Exstrophy can be determined by grading the extent of the prolapse.

It's important to consult with a doctor who will evaluate your specific case and recommend the most appropriate examinations, tests, and procedures for an accurate diagnosis and assessment of Bladder Exstrophy.

Treatment Options

The goals of treatment for Bladder Exstrophy are:

Protection and prevention: Initially, a clear plastic dressing is used to protect the bladder after birth, preventing trauma and polyp formation.

Surgical repair: Surgery is required to treat Bladder Exstrophy. There are different surgical approaches, including complete primary repair of exstrophy (CPRE) and modern staged repair of bladder exstrophy (MSRE). These surgeries aim to achieve various goals, such as moving the bladder inside the body, reconstructing genitalia, addressing epispadias, reconstructing the bladder neck, and closing the pelvic bones.

Medication types recommended for Bladder Exstrophy include:

  • Anticholinergic drugs: These medications block a chemical that signals the bladder to contract, helping to control bladder muscles.
  • Beta-3 adrenergic drugs: These relax the smooth muscle in the bladder walls, allowing it to hold more urine.

Therapeutic procedures recommended for Bladder Exstrophy are:

  • OnabotulinumtoxinA (Botox): In small doses, it temporarily weakens or paralyzes the bladder muscles to prevent frequent contractions.
  • Sacral nerve stimulation: This procedure regulates nerve signals that carry impulses to the bladder by implanting a device similar to a pacemaker in the lower back.

Other treatments and health behavior changes for Bladder Exstrophy include:

  • Behavioral therapies: Pelvic floor muscle training is recommended as a first-line treatment.
  • Lifestyle modifications: Making changes like maintaining a healthy weight and avoiding bladder irritants may help manage symptoms.

Each treatment option works towards achieving specific goals such as urinary continence, preservation of upper urinary tract and genital function, and cosmesis. It's important to consult with your doctor about the best treatment approach for your individual situation.