Definition of Bladder Exstrophy
Bladder exstrophy is a rare congenital condition that affects the development of the urinary system. In individuals with bladder exstrophy, the bladder fails to properly form and close during fetal development, leading to a malformation where the bladder is exposed and located outside the abdominal wall. This condition is present at birth and can have significant implications for both physical and psychological well-being. The severity can vary among individuals, and it often requires surgical intervention to reconstruct the affected area and improve bladder function.
The physical manifestations of bladder exstrophy include a visible and open bladder on the lower abdomen, as well as associated anomalies such as pelvic bone abnormalities. Additionally, affected individuals may experience urinary incontinence and face challenges related to bladder and pelvic floor function. Treatment typically involves a series of surgical procedures aimed at reconstructing the bladder and surrounding structures, often starting in infancy. Long-term management may involve ongoing medical care and support to address associated complications and promote overall quality of life for individuals with bladder exstrophy.
What are the types of bladder exstrophy?
Bladder exstrophy is one condition in a group of birth defects called bladder exstrophy-epispadias complex (BEEC). Some babies are born with one type of BEEC. Others have multiple BEEC conditions.
The other types of BEEC include:
- Epispadias occurs when a baby’s urethra does not form properly.
- Cloacal exstrophy occurs when the genitals, bladder and rectum do not separate.
Occurring at a rate between 1 in 10,000 to 1 in 50,000 with a male-to-female ratio of 2.3–6:1, bladder exstrophy is relatively rare. For those individuals with bladder exstrophy who maintain their ability to reproduce, the risk of bladder exstrophy in their children is approximately 500-fold greater than the general population.
Pathophysiology of Bladder Exstrophy
Bladder-exstrophy-epispadias-complex (BEEC) depicts a spectrum of birth defects, ranging from epispadias to cloacal exstrophy at the milder and the most severe ends of the spectrum. The classical bladder exstrophy is characterized by abnormalities involving the lower urinary tract, abdominal wall, bony pelvis, genitalia, pelvic floor, spine, and the anus.
As a general rule, all the structures, including the bladder, urethra, vagina, and rectum, are displaced anteriorly in bladder exstrophy. The distorted anatomy of the bony pelvis in bladder exstrophy needs a special mention. The ‘open book configuration’ of the pelvis is an appropriate term for its description. The main abnormalities in the bony pelvis include pubic diastasis, shorter anterior segments, and outward rotation of the anterior and posterior segments.
In children with exstrophy, the pubic diastasis is around 4 cm at birth and increases to around 8 cm by the age of 10 years. Contrary to this, in a normal human, the distance is less than 1 cm at all ages. It has been postulated that a disruption in the symphyseal ligaments might be responsible for this. Secondly, the anterior segments of the bony pelvis are approximately 30% shorter. However, the dimensions of the posterior segments of the bony pelvis are within normal limits. Both, the anterior and posterior segments of the bony pelvis, are also externally rotated.
We don’t know what causes conditions in the epispadias-exstrophy complex. Boys are slightly more likely to develop one of these conditions.
The symptoms may include:
- Triangle-shaped hole in the abdomen through which the bladder is visible
- Urethral opening is in the wrong place
- Abnormalities in the shape of the genitals
- Widened pubic bones
- Legs and feet turned out
- Abnormally shaped abdominal muscles
- Belly button is not in a normal place
- Bulging of intestine through the abdomen
What are the symptoms of bladder exstrophy?
The signs and symptoms vary depending on the severity of the defect, but they may include:
- A bladder that is turned inside out and exposed on the abdominal wall
- A small bladder with an abnormal bladder neck
- Epispadias – a birth defect in which the inner lining of the urethra (the tube that helps urine pass from the bladder out of the body) is malformed and visible either on the top surface of the penis (for boys) or between the labia minora and labia majora (for girls)
- Widened pubic bones that don’t join together as they should; outwardly rotated legs and feet
- Abnormal genitalia
- In boys, the penis may be short and/or curved upward. The testicles may be positioned abnormally.
- In girls, the clitoris and labia minora may be separated. The vaginal opening may be narrow, and the urethra may be shorter.
- Vesicoureteral reflux (VUR) – a condition in which urine can travel back to the kidneys rather than draining down the ureters, into the bladder, and out through the urethra
- Displaced belly button (umbilicus) and/or umbilical hernia
It can lead to several complications, affecting both physical and psychological aspects of an individual’s well-being. Some of the common complications associated with bladder exstrophy include:
- Urinary Incontinence: Individuals with bladder exstrophy often experience difficulties controlling urination, leading to urinary incontinence. This can impact daily life and may require ongoing management strategies.
- Pelvic Floor Dysfunction: The malformation can affect the pelvic floor muscles and structures, leading to issues with bowel function and sexual function.
- Orthopedic Problems: Bladder exstrophy is often associated with abnormalities in the pelvic bones and musculoskeletal system, which may result in orthopedic complications and gait abnormalities.
- Recurrent Urinary Tract Infections (UTIs): The exposed bladder and altered anatomy may increase the risk of recurrent UTIs, requiring regular monitoring and management with antibiotics.
- Psychosocial Challenges: Living with a visible malformation can lead to psychosocial challenges, including self-esteem issues, social stigma, and difficulties with body image. Psychological support and counseling may be beneficial.
- Surgical Complications: The surgical interventions required to reconstruct the bladder and surrounding structures may have associated complications, including infection, bleeding, and the need for additional surgeries over time.
- Fertility Issues: In some cases, individuals with bladder exstrophy may face challenges with fertility and reproductive health.
Risk factors of Bladder Exstrophy
Factors that increase the risk include:
- Family history. Firstborn children, children of a parent with bladder exstrophy or siblings of a child with bladder exstrophy have an increased chance of being born with the condition.
- Race. Bladder exstrophy is more common in whites than in other races.
- Sex. More boys than girls are born with bladder exstrophy.
- Use of assisted reproduction. Children born through assisted reproductive technology, such as IVF, have a higher risk of bladder exstrophy.
Diagnosis and tests
Often, bladder exstrophy is diagnosed prenatally via sonogram. However, sometimes this condition is not discovered until a baby is born.
Your doctor will order several tests to better understand your baby’s specific type of malformation and develop a plan.
These tests may include:
- Abdominal X-rays
- Abdominal ultrasound to evaluate the kidneys, urinary structures and how urine (pee) is draining
- Spinal ultrasound or spinal MRI to evaluate for tethered spinal cord
- Echocardiogram (ECHO) to look for heart defects
Surgery is the primary treatment for bladder exstrophy. Some children will require many surgeries over several years as they grow and develop. Most children will eventually have fully functioning bladders and normal-looking genitals with appropriate treatment.
There are several approaches a specialist known as a pediatric surgeon may take.
Modern Staged Repair of Exstrophy (MSRE)
Modern staged repair of exstrophy (MSRE) is a series of surgeries done in stages between the ages of three days and four to five years. The steps are broken down as follows:
- Three days after birth: Reconstructive surgery positions the bladder back inside the body.
- Age six to nine: Reconstructive surgery is used to repair epispadias or other genital malformations.
- Age four to five years: Reconstructive surgery to the bladder neck (from which urine exits the bladder to the urethra) is used to improve bladder control.
Complete Primary Repair of Exstrophy (CPRE)
Complete primary repair of exstrophy (CPRE) was created to reduce the number of surgeries a child with BE has to undergo. Ideally, the repair is done in one sitting. It is a complex surgery done when the child is a few months old and can take around 10 hours to complete.
After completing CPRE, the child will need to be immobilized with a pelvic cast.
In addition to MSRE or CPRE, other surgeries may be needed to repair other complications of bladder exstrophy. Some of the options include:
- Osteotomy: This is a surgery used to repair the separation of the right and left pubic bones. It involves cutting bones and sometimes adding bone tissue to reshape or realign bones.
- Clocystoplasty: Also known as bladder augmentation, this is a surgery often used in people with overactive bladder (OAB) that makes the bladder larger so that it can hold more urine.
- Ileocystoplasty: This is a surgery that makes the bladder larger by grafting a section of the person’s small intestine.
- Gastrocystoplasty: This is a similar surgery that makes the bladder larger using a section of the stomach.
Living & managing with bladder exstrophy
Your child may need a range of surgical procedures and tests. In many cases, additional surgeries are required during childhood, adolescence and young adulthood. Your child may require great emotional and psychological support.
Even with successful surgery, patients may have long-term problems with the following:
- Ability to hold in urine
- Urinary reflux (back-up of urine to the kidneys)
- Repeated urinary tract infections (UTIs)
- Bladder or colonic adenocarcinoma (cancer that develops in the glandular tissues of the body)
- Uterine prolapse (the uterus slips down into or protrudes out of the vagina)
Fortunately, sexual function and libido remain normal in bladder exstrophy patients. Successful pregnancies and delivery are possible.
It is generally not preventable through lifestyle choices or interventions during pregnancy.
- Prenatal care practices, such as regular check-ups, proper nutrition, and avoiding harmful substances, can contribute to a healthy pregnancy but do not specifically prevent bladder exstrophy.
- Genetic counselling may be recommended for individuals with a family history of congenital anomalies or those who have had a previous child with such conditions.
- While prevention of bladder exstrophy is not possible, early detection through prenatal screenings can aid in better preparation for managing the condition after birth.