Bladder exstrophy is a rare congenital abnormality—birth defect—that affects the urinary system. It’s characterized by the development of the bladder from the inside out and requires corrective surgery within the first few days of life. Babies born with bladder exstrophy therefore have their bladder on the outside of their body rather than within their abdominal cavity. For more information on the cause, treatment, and prognosis of this condition, here’s everything you need to know about bladder exstrophy.
Different Types of Bladder Exstrophy-Epispadias Complex (BEEC)
Bladder exstrophy falls within a larger category of birth defects that affect the urinary system called bladder exstrophy-epispadias complex (BEEC). BEEC is used to describe a range of defects with variable expression that involve the abdominal wall, pelvic, urinary tract, genitalia, and occasionally the spine and anus. The three primary types of bladder exstrophy-epispadias complex include the following:
- Epispadias – this is the least severe type of BEEC that’s characterized by abnormal under-development of the urethra. In males, this results in the urethra ending in an opening on the top side of the penis, while in girls the urethra tends to develop too far up front.
- Bladder Exstrophy – this is the most common type of BEEC where the bladder forms inside out, on the outside of the body. It can also include urinary tract organs, certain digestive system organs, and various parts of the reproductive system.
- Cloacal Exstrophy – this is the most severe type of BEEC and is characterized by a lack of separation between the rectum, bladder, and genitals during development. Kidneys, backbone, pelvic bones, and the spinal cord may also be affected, and it often results in spina bifida. Abdominal organs may be exposed, and the anus may be sealed in severe cases.
If your child is born with any type of BEEC, it’s important to quickly administer treatment. Your doctor will help you prepare for this and process the next steps after delivery.
Causes of Bladder Exstrophy
Unfortunately, there’s no direct cause of bladder exstrophy. Like many other congenital diseases, expecting mothers have no reason to feel guilty for the development of BEEC. Scientists believe that bladder exstrophy occurs at some time around the 11th week of pregnancy when the organs begin to develop, which explains why it can affect abdominal muscles and pelvic bones as well. This is often due to issues with the cloaca, a structure where reproductive, urinary, and digestive openings come together.
Bladder exstrophy is believed to be caused by a mixture of genetic and environmental factors. Some of the risk factors include family history, race, sex, and use of assisted reproduction technology such as IVF. Caucasian boys are at the highest risk of being born with bladder exstrophy.
Symptoms of Bladder Exstrophy
Bladder exstrophy is rare and only affects about 1 out of every 50,000 newborns. However, if bladder exstrophy does occur, it presents a number of symptoms. Some of the most common symptoms include the following:
- Abnormal Bladder Development
- Vesicoureteral Reflux
- Widening of Pubic Bones
- Umbilical Hernia
- Abnormal Genitalia Development
These symptoms are often secondarily associated with bladder exstrophy. Since the main symptom will be the visual presence of the bladder on the surface of the abdomen, you shouldn’t worry about bladder exstrophy once you’ve taken your newborn home from the hospital. However, if you think there may be an indication of another urologic condition, it’s always best to schedule a follow up or ask your pediatrician during checkups.
Diagnosis of Bladder Exstrophy
Many instances of bladder exstrophy are caught during sonograms, prior to your due date. When caught early, birth plans are amended to include immediate treatment following delivery. However, if it’s not seen beforehand, it’s quickly diagnosed at birth as the bladder can be clearly seen on the exterior of the baby’s abdomen. In these instances, the newborn is quickly moved to a specialist unit where a surgeon will be contacted to perform treatment as soon as possible.
Treatment for Bladder Exstrophy
All cases of bladder exstrophy are treated with surgery, but the methodology depends on the severity of the BEEC. Luckily, thanks to many advancements in modern technology, the surgical success rate is high, and reconstruction of the affected organs allows for functional use. Surgery aims to close the bladder and the other affected organs while rebuilding any affected sex organs in both girls and boys. The bladder also needs to be fixed so that it can properly store urine.
One of the most common types of surgical treatment for bladder exstrophy is staged reconstruction, which involves spreading surgeries out during early development. Various stages of this method can be combined if the bladder exstrophy and associated symptoms aren’t severe. In cases that are more serious, reconstructive surgery may extend further into the child’s life. The three main surgeries of staged reconstruction are as follows:
Initial Closure
Initial closure surgery is the first step in treating bladder exstrophy. It tends to occur within the first few days of live and aims to reform the pelvic bones, bladder, abdominal wall, urethra, and belly button. If any of these organs aren’t affected, they’re left alone during the procedure. During recovery from initial closure surgery, your baby’s legs will need to be placed in traction to ensure proper healing of the pelvic bones. Recovery usually lasts around three to four weeks, where your baby will stay in the ICU for close monitoring.
Epispadias Repair
In almost every instance, the epispadias repair is done during a follow up surgery. However, there are rare instances where it can occur simultaneously with the initial closure. If your surgeon does not recommend this, it’s best to wait until your baby is between the ages of six months and 12 months old. During this surgery, urethras located on the top of a flattened penis will be closed and transferred to normal positioning.
Continence Procedure
The final stage of bladder exstrophy treatment needs to occur when your child is old enough to voluntarily participate in a voiding program. Therefore, children usually need to have strong emotional and developmental status and express a desire to stay dry. This surgery will repair the ability for children to control their urine flow and enlarge the bladder to accommodate urine storage.
While the treatment for bladder exstrophy isn’t easy and requires children to overcome a lot of challenges, long-term prognosis is highly positive. Follow up appointments will be scheduled to monitor for signs of urine leakage and it’s likely that you’ll need to continue working with a urologist for some time, but eventually children born with bladder exstrophy can have normally functioning urinary tract and reproductive systems.
Bladder Exstrophy Long-Term Prognosis
Children who don’t receive treatment for bladder exstrophy won’t be able to store and hold urine, so they’ll need assistive medical devices to reduce urinary incontinence. They may also be at an increased risk of developing bladder cancer later in life alongside ongoing sexual dysfunction. However, since almost all children born with bladder exstrophy will undergo corrective treatment shortly after birth, there’s an optimistic prognosis. This will depend on the severity of the condition, but most individuals treated for bladder exstrophy will go on to have normal lives with normal sexual functioning, including the ability to reproduce. If you have any questions or concerns, be sure to discuss them with your doctor to fully understand the implications of this condition.
While many people reserve urologic conditions for adults, children can and do experience them. Bladder exstrophy can be a scary diagnosis, but with modern technology and experienced surgeons, your child can make a full recovery. If you think that your child has a urologic condition or anatomical abnormality, don’t hesitate to talk to your pediatrician today. In addition to bladder exstrophy, there are several things that can affect your child. Therefore, try to take any signs of discomfort, bedwetting, or other potential indications of a problem seriously. It’s always better to see a doctor just to be sure.
Regardless of the age of your child, Byram Healthcare has a range of pediatric catheters and supporting supplies to help make pediatric urology treatments at home as easy as possible. For management of chronic conditions, Byram Healthcare has the products and support you need to live a happy, healthy life. Our mission is to help improve health outcomes and affordability of care for people living with chronic diseases.
Byram Healthcare was a proud sponsor of the 2022 International Exstrophy Conference hosted by the Association for the Bladder Exstrophy Community and the John Hopkins Children's Center to help individuals navigate each step of their journey through bladder exstrophy. We are also a member of the National Association for Continence’s Trusted Partners Program, whose mission is to provide quality continence care through education, collaboration and advocacy. We continue to build partnerships in the clinical community to ensure we focus on what’s best for the patient.
