Exstrophy means ‘turned inside out’. Bladder exstrophy is a congenital (present at birth) abnormality of the bladder. It happens when the skin over the lower abdominal wall (bottom part of the abdomen) does not form properly, so the bladder is open and exposed on the outside of the abdomen.
In epispadias, the urethra does not form properly. All boys with bladder exstrophy also have epispadias, but epispadias can also be isolated and occur on its own.
In boys, the urethra may be very short and split, and as a result it emerges on the top surface of the penis rather than in its usual position at the end of the penis. The split may be small, or, when it occurs in boys born with bladder exstrophy, it may involve the full length of the penis, making the penis short and broad.
In girls, the opening of the urethra is higher and wider than usual, the labia (the lip-like folds encircling the vaginal opening) are further apart than normal and the clitoris (a small, very sensitive part of the female genitalia) is split in two.
What features are associated with bladder exstrophy?
As well as the bladder being exposed, babies with bladder exstrophy may also have related problems affecting their urinary system and pelvic bones. These related problems vary in severity and do not affect every baby. These will be confirmed using ultrasound scans and x-rays, and may be corrected during a series of operations.
They include:
- Problems with the neck of the bladder and sphincter (ring of muscle that squeezes and relaxes to let urine flow from the bladder)
- The bladder has a smaller capacity than usual, so cannot hold much urine
- The ureters join the bladder in a different place to normal
- The middle part of the pelvic bones are separated
Bladder exstrophy can be associated with other problems, but the doctor will examine your child closely to see if this is the case. Some may need to be corrected with an operation, but others do not.
The more common problems include:
- The anus is further forward than usual
- The umbilicus (belly button) is lower down than usual
- Umbilical and Inguinal Hernia, where part of the abdominal lining and sometimes a section of intestine bulges out through a weak area in the abdominal wall muscles
- Undescended testes, where the testicles are not in their usual place in the scrotum
How are bladder exstrophy and epispadias diagnosed?
Bladder exstrophy is sometimes diagnosed before birth using ultrasound scans. However, it is often not picked up before birth, but will be obvious once your baby is born.
Epispadias in boys is usually identified at birth, but in girls the diagnosis is usually made later when they develop bladder control problems or infections.
What causes bladder exstrophy and epispadias?
We do not know why bladder exstrophy occurs. It affects the developing baby during very early stages of development, at about four to six weeks into the pregnancy. This is when organs, muscles and other tissues start to form. It is not the result of anything either parent did or did not do, and is not simply an inherited condition.
How common is bladder exstrophy?
Bladder exstrophy occurs in one in every 40,000 births, affecting two to three times more boys than girls. If you have a baby with bladder exstrophy the chance of having another baby with bladder exstrophy is increased to about one in 100.
How are bladder exstrophy and associated problems treated?
Bladder exstrophy and epispadias are corrected in a series of operations over the first few years of life. The overall aim of treatment is to prevent any kidney damage and correct the abnormalities so that your child’s urinary system and genitals work properly and look as normal as possible.
The doctor will explain the treatment plan for your child; this can vary from child to child.
What do the operations involve?
Bladder and abdominal wall repair operation – first few days after birth
This operation closes the bladder and abdominal wall, so that that the bladder is inside the body and in the correct position. After the operation, urine will drain from the bladder through a number of catheters (plastic tubes) placed in the bladder.
You and your child will be able to go home once your child is recovering and has been reviewed by the doctors.
Bladder neck reconstruction procedure – at one to two years old
After the initial closure of the bladder exstrophy, there is no sphincter at the junction of the bladder and urethra. Surgery for bladder neck reconstruction uses existing muscle and soft tissue to create a ring of muscle that acts like a sphincter. This holds urine in the bladder allowing it to stretch and gain more capacity and also helps form a strong stream of urine when urinating.
In boys, the bladder neck reconstruction procedure may also involve a reconstruction of the urethra and penis, or it may be done in a separate operation at a later stage.
During the same operation, the ureters may be re-positioned within the bladder if they are not joining the bladder in the correct place. This can cause a condition called vesico-ureteric reflux (VUR) where the valves can fail, allowing urine to flow backwards from the bladder towards the kidney. The ureteric re-implantation operation involves disconnecting the ureters and re-attaching them in the correct place.
Are there any risks with these operations?
All surgery carries a small risk of bleeding during or after the operation. Every anaesthetic carries a risk of complications, but this is small. There is a small risk of infection, but your child may be given antibiotics as a precaution.
After the first operation to repair the bladder and abdominal wall, there is a risk that the wound will not heal properly and open up again. This can cause the bladder to move out of position. This happens more often if the area to be repaired is large, as the skin needs to stretch to cover it. If the wound opens up again, your child will need another operation to repair the bladder and abdominal wall. The surgeons may correct the pelvic bones during this operation as well.
There is also a risk of kidney damage in children with bladder exstrophy. The abnormal join between the ureters and bladder allows urine to flow backwards towards the kidneys. This is called vesicoureteric reflux (VUR). It can sometimes lead to a condition called hydronephrosis, where the kidneys become swollen. Both these conditions will be monitored closely throughout your child’s treatment.
What is the outlook for babies born with bladder exstrophy?
Children with bladder exstrophy repair need some further treatment later in childhood if they are having problems keeping dry.
If the bladder does not develop well, they many need an operation called bladder augmentation, which involves making the bladder larger, and therefore able to hold a larger volume of urine, using a section of intestine. These children then empty their bladder using a catheter to drain away the urine. The catheter can be inserted either into the urethra or a specially made channel called a Mitrofanoff channel.
The external genitalia of an individual born with bladder exstrophy or epispadias will always look different from others. In males the penis tends to be shorter and broader, but this does not usually cause any problems with their sex lives. Men born with bladder exstrophy have fathered children, although they may need fertility treatment. In many cases, sperm production is normal and sperm are healthy but ejaculating may be a problem.
Women born with bladder exstrophy have also had children, although pregnancy should be supervised by a specialist obstretrician and their babies are usually delivered by caesarean section.
Outlook for babies born with bladder exstrophy – Indian Scenario ?
In India, there may be problems with regular follow up due to far away distances from the hospital and lack of nursing care around the area where the child lives. Also in the event of the parents not willing for multiple surgeries, an option for a permanent urinary diversion (ureterosigmoidostomy) may be offered where the tubes from the kidneys are joined into a part of the large intestine (sigmoid colon). This would help to keep the child dry and he would then be passing urine and stools from the anal opening. These are complex surgeries and are carried out only after detailed discussion and interaction between the parents, patient families and the doctors.
