WHAT IS BLADDER EXSTROPHY & EPISPADIAS?
Bladder exstrophy and epispadias is a rare congenital abnormality that occurs when the skin over the lower abdominal wall (bottom part of the stomach) is improperly formed. The bladder develops outside the fetus and the exposed bladder is dysfunctioned, resulting in urine leakage. The bladder is turned inside out.
Bladder exstrophy usually involves several systems within the body which include the urinary tract, reproductive tract, pelvic bones and muscles, and rarely the intestinal tracts.
The condition is traced along the family line. Firstborn children, a child of a parent with bladder exstrophy, or siblings of a child with bladder exstrophy have increased chances of being born with the disorder.
Bladder exstrophy happens in 1 in 40,000 births, affecting 2 to 3 times more boys than girls. A family may not have the condition more than once because the chances within a family unit are 1 bladder exstrophy in 100 births.
Bladder exstrophy & epispadias is caused by a developmental abnormality that occurs 4 to 5 weeks after conception. As the fetus grows, the cloaca does not develop properly and the cloacal membrane is not replaced by tissue that will form the abdominal muscles.
The cloacal defects can vary a lot depending on the age of the fetus when the developmental discrepancy developed. The underlying causes of this error are not known.
A cloaca is a common chamber into which some small or all of the urinary, digestive, and reproductive tract discharge their content–a “junction” box for the body systems. A cloaca exists in all human embryos for up to 4 to 6 weeks, during which it divides into the urogenital sinus and the rectum.
TYPES OF EXSTROPHY
There are three types of exstrophy and they include:
This affects the tube (urethra) that carries urine from the bladder to the outside of the body. There is an opening in the urethra.
This affects the urethra, bladder, genitals, and bowels. In this case, the rectum, bladder, and genitals do not fully separate ad the fetus grows. These organs may not fully develop, as well as the pelvic bones.
The kidney, spinal cord, and backbone may also be affected. Most children with this condition develop spinal abnormalities including spina bifida.
The bladder is formed on the outside of the body. The protruded bladder is also turned inside out. Bladder exstrophy affects organs of the urinary tract, digestive system, and reproductive system.
The abdominal wall, bladder, pelvic bones, genital organs, rectum, and anus can witness abnormalities. Babies with bladder exstrophy suffer from vesicoureteral reflux; the condition where urine reverses its flow from the bladder back up into the ureter (the tubes that connect to the kidney). Children with bladder exstrophy also have epispadias. Cloacal or bladder exstrophy is common in children born with protruding abdominal organs.
SIGNS & SYMPTOMS
The symptoms of this disorder include the following:
Diagnosis of bladder exstrophy is often done before the baby’s birth with:
Signs to look for using ultrasound or MRI include:
Diagnosis when the baby is born. Specific characteristics are looked for, adopting physical exams, they include:
Surgery is the main treatment for bladder exstrophy. Some children may require more than one surgery, done over several years as they are growing and developing.
First surgery takes place when the baby is only a few years old. This is a reconstructive surgery that positions the bladder back inside the body to enable it to function correctly and appear normal. Other surgeries may be put on hold until when the child is older and has bladder control. This may be around 4 to 5 years of age. Such surgeries may include:
Factors that increase the risk of bladder exstrophy include:
A child with untreated bladder exstrophy will have urine incontinence, that is, he or she will not be able to hold urine. Such a child is also at risk of sexual dysfunction, increased risk of bladder cancer, and umbilical hernia.
Young children with bladder exstrophy may walk with their legs turned somewhat outward because of the separation of the pelvic bones. Surgery can reduce complications, but the degree of success depends on how severe the defect is, and complications such as damage to blood vessels, nerves, uterine, genitals, bladder, pelvis, may occur, among others.
Although people born with bladder exstrophy may have a normal sexual function, including the ability to bear children, pregnancy will be a high risk for both the mother and child. A planned cesarean birth may be needed.
The mortality rate of bladder exstrophy is near zero. There is a record of 98% for a 10-year survival rate, 96% for 20 years, and 91% for 35 years.
Bladder exstrophy can be repaired with reconstructive surgery. Seek the attention of a consultant for more direction.
ISL 1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development. It has been suggested that genes may play a role. However, the report did not provide any evidence of inherited mutation that could play a role in the development of the condition.
If you have had your bladder removed, you will need to get used to a new way to pass urine from your body. The operation called “cystectomy” is a lifelong change.
The bladder is a master of self-repair. When damaged by infection or injury the organ can mend itself quickly calling upon specialized cells in its lining to repair tissues and restore a barrier against harmful materials concentrated in the urine.
The cost of bladder repair in the U.S cost between $5,000 to $10,000. The cost varies depending on the location of treatment, the severity of the condition, the specialist involved.