Bladder exstrophy is a rare, complex birth defect involving the development of some of the pelvic organs. During the formation of organs while the embryo is in the uterus, the bladder, the urethra, and the front portion of the pelvic bones fail to grow together and fuse in the midline, in the front of the embryo. The defect includes the formation of the skin and muscles in the lower abdominal wall. This results in a child being born with an exposed and unclosed on the lower tummy. The inside of the bladder is exposed to the outside air whereas the back of the bladder is normal.
Additionally, in baby boys, the urethra (the urinary tube through the prostate and the penis) is also exposed through the skin and on the top of the penis instead of underneath, known as epispadias. In girls, the urethra is usually shortened and is also split and open to the outside, known as female epispadias; the clitoris is separated into two halves. Because of the bladder exstrophy, the open bladder is unable to store urine in any fashion; urine leaks continuously out onto the skin surrounding the affected area.
What causes bladder exstrophy is not completely understood, but it is not caused by anything that the mother does during pregnancy. The defect is believed to occur due to abnormal development of an embryological structure known as the cloacal membrane. This membrane is a temporary structure that allows for the normal development of several pelvic organs and structures including the bladder, urethra, internal pelvic bones and muscles, as well as the skin and muscles that cover the structures. If this membrane persists in the embryo too long, or possibly if it is overdeveloped, this causes the defects associated with bladder exstrophy. As with all other development, there are always unique aspects to this abnormal development in the individual embryo or fetus with bladder exstrophy. Bladder exstrophy requires surgical repair in order to allow the bladder to store and empty urine.
Epispadias is part of the overall bladder exstrophy complex, although it can occur in isolation as a lesser form of exstrophy, with or without some involvement of the bladder opening (called the bladder neck). Epispadias is characterized by the failure of the urethra to close properly, allowing the inner lining to be flattened and exposed on the top surface instead of in the underside part of the penis or in girls allowing the inner lining of the urethra to be open below a clitoris that is then split down the middle. Epispadias requires surgical repair to allow for proper urinary flow as well as to restore the appearance of the external genitalia.
Every child born with bladder exstrophy is unique and will receive personalized treatment that is specific to the severity of their bladder exstrophy.Some children with more severe conditions will require more surgeries to restore bladder function and also to achieve an acceptable cosmetic appearance for the child’s genital and lower abdominal areas.
Additionally, the number of surgeries required is dependent upon the surgical approach of the specific pediatric urologist caring for your child. One approach is known as “Modern Staged Repair of Exstrophy” or MSRE and involves 3 stages:
- Initial closure (First 2-3 days of life): surgery to repair bladder, lower abdominal, and partial repair of the proximal Epispadias (part closest to the bladder)
- Completion of Epispadias Repair (~6-12 weeks): surgery to repair the distal half of the Epispadias (part closest to the tip of penis)
- Bladder Neck Reconstruction (4-10 years): surgery to allow proper filling, holding, and voiding of urine from the bladder. And almost always involves a bilateral ureteral reimplantation procedure to prevent kidney infections.
MSRE involves three distinct surgeries, but many children with Bladder Exstrophy will require additional surgeries, such as; Hernia Repair, Bladder Augmentation, Reconstructive and Scar Revision surgeries as well.
Another surgical approach is known as Complete Primary Repair of Exstrophy (CPRE). CPRE combines the first two stages of MSRE into one surgery, thus eliminating a surgery from the total number a child may receive.
But again, it is extremely important to emphasize that every child is different, and every child will require unique care based on the severity of their condition.
Achieving a pleasing genital appearance is one of the top priorities in Bladder Exstrophy repair as it plays an important role in the psychological development in children with Bladder Exstrophy. Genital repair may occur at different stages in the overall mending of Bladder Exstrophy and can vary significantly based on the severity of the defect and the preferred surgical approach being used. Although, it is nice to note that the majority of children with Bladder Exstrophy do achieve complete bladder and sexual function.
Yes! The vast majority of children with Bladder Exstrophy are able to participate in physical activities and have a normal, healthy childhood. However, some children may experience “stress incontinence” or small to moderate leakage when participating in any physical activity that puts stress on their bladder. This may require the child to wear a leak pad when participating in such activities, but this, in no way prevents the child from taking part in sports and enjoying an active childhood.
The chances are extremely low for having multiple children with Bladder Exstrophy (~1%). In general, approximately one in every 40,000 children will be born with Bladder Exstrophy and there is a significant increase in risk for parents who have previously had a child born with bladder exstrophy. But with that being said, the chances are still about one in 100 which is very low.
As always, the quality of life that can be reached is strongly correlated to the severity of the defect as well as many other factors that are unique to every child. However, the majority of children born with Bladder Exstrophy will be able to go on to live very happy, healthy, and active lifestyles. Most children will recover control over bladder function as well as have the opportunity to raise children of their own.
The major focus for parents should be supporting their child while they go through their different stages of Bladder Exstrophy development. It is important that parents develop strong communication skills with their child as it relates to bladder exstrophy, and they are open and understanding to the psychological impact that Bladder Exstrophy can have on their child.
As mentioned previously, most children with Bladder Exstrophy will be able to father/mother children of their own, but it is important to note the problems that may arise due to bladder exstrophy as it relates to fertility and reproduction.
In males, the problem usually arises from inability to ejaculate or low semen amounts upon ejaculation. The good news is that the ability to produce healthy sperm is not affected, which opens the door for assisted reproductive technologies such as in vitro fertilization and intrauterine insemination.
In females, the problem usually arises from anatomical abnormalities. Some women will experience uterine prolapse during pregnancy due to a lack of support for the uterus causing it to protrude through the vagina.
If this complication arises, many women will be advised/choose to receive a Caesarean section upon delivery of the baby in order to preserve urinary continence and to ensure the safest delivery for the child. Other girls with Bladder Exstrophy that are encountering problems in reproduction and sexual intercourse usually have problems with narrowing of the vaginal canal/opening.
This anatomical abnormality can be fixed with a simple procedure to widen the vaginal canal allowing for normal intercourse, thus allowing for pregnancy to be achieved.
Achieving complete bladder control is the ultimate goal for treatment in bladder exstrophy children. The road to achieving control may be difficult, but the majority of children attain control in almost all cases.
Bladder exstrophy children need to be more aware about their fluid consumption and they usually follow a regular voiding program. Some children may use techniques such as Clean Intermittent Catheterization (CIC) if they encounter problems with voiding or emptying their bladder.
Other children, although it is rare, may require additional surgeries; one such surgery is bladder augmentation to increase the amount of urine that can be held within the bladder. Every child will have a different path and some paths may be more challenging than others, but the goal of every bladder exstrophy team is to achieve continence in whatever manner is best suited for the child.