Overview
Bladder exstrophy is a rare birth defect in which the bladder develops outside the fetus, resulting in urine leakage (incontinence) due to the exposed bladder's inability to store urine or function normally. It is part of the larger group of birth defects called the bladder exstrophy-epispadias complex (BEEC). Bladder exstrophy can involve defects in the bladder, genitals, pelvic bones, intestines, and reproductive organs. Surgery is typically required to correct the defects.
Understanding the disease
Symptoms
The symptoms of bladder exstrophy include urine leakage (incontinence), defects in the bladder, genitals, and pelvic bones, as well as defects in the intestines and reproductive organs. Children with bladder exstrophy may also have defects in the abdominal wall, bladder, genitals, pelvic bones, final section of the large intestine (rectum), and opening at the end of the rectum (anus). Additionally, they often have vesicoureteral reflux, which causes urine to flow the wrong way - from the bladder back up into the tubes that connect to the kidneys (ureters).
Risk Factors
The risk factors for developing bladder exstrophy 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.
Development
Bladder exstrophy is a birth defect where the bladder develops outside the fetus. It is a part of the bladder exstrophy-epispadias complex (BEEC). Bladder exstrophy can be classified into three types based on severity:
- Epispadias: This is the least severe form of BEEC, in which the urethra does not fully develop.
- Bladder exstrophy: This defect causes the bladder to form on the outside of the body, and it is usually associated with other defects in the urinary, digestive, and reproductive systems. It is the most common type in the BEEC group.
- Cloacal exstrophy: This is the most severe form of BEEC, where the rectum, bladder, and genitals do not fully separate. There are also issues with the pelvic bones, and the kidneys, backbone, and spinal cord may be affected. Spina bifida is often present in children with cloacal exstrophy. The exact cause of bladder exstrophy is unknown, but it is believed to result from a combination of genetic and environmental factors.
Assessment and Diagnosis
Diagnosis
Bladder exstrophy can be diagnosed through various methods, including routine pregnancy ultrasound, ultrasound or MRI, and examination of newborns. Imaging tests can reveal signs such as a bladder that doesn't fill or empty correctly, an umbilical cord placed low on the abdomen, separated pubic bones, and smaller than normal genitals. In newborns, doctors examine the size of the bladder opening, testicle position, presence of an inguinal hernia, and the anatomy of the navel and rectum. Urodynamic tests, such as measuring post-void residual urine and bladder pressures, may also be conducted to assess bladder function.
Management and Treatment
Complications
Potential complications of bladder exstrophy may include urinary incontinence, sexual dysfunction, and an increased risk of bladder cancer. After surgery, the success of which depends on the severity of the defect, children may be able to hold urine. Other complications can include defects in the abdominal wall, bladder, genitals, pelvic bones, final section of the large intestine (rectum), and opening at the end of the rectum (anus). Additionally, children with bladder exstrophy may have vesicoureteral reflux, causing urine to flow the wrong way from the bladder back up into the tubes that connect to the kidneys (ureters).
Preparing for medical consultation
To prepare for an appointment for bladder exstrophy, you should:
- Ask about any pre-appointment instructions: When scheduling the appointment, inquire about any special preparations needed.
- Bring a family member or friend: Having someone accompany you can help remember important information and provide emotional support.
- Write down questions: Prepare a list of questions to ask your healthcare provider, including questions about the severity of the defect, treatment options, and potential complications.
- Gather personal information: Bring any relevant personal information, such as symptoms, medications, and medical history.
- Be aware of pre-appointment restrictions: Inquire about any restrictions, such as dietary restrictions, that you need to follow before the appointment.
- Prepare for urinary incontinence appointment: For an appointment related to urinary incontinence, make a list of symptoms, medications, and questions to ask the provider, including inquiries about the impact of weight and medication on your condition. Remember to prioritize your most important questions and don't hesitate to ask additional questions during the appointment.