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- May 18, 2021
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Bladder exstrophy (EK-stroh-fee) is a rare birth defect in which the bladder develops outside the fetus. The condition is more common in males than in females. The exposed bladder and urethra â€” the tube that expels urine â€” result in the bladder being unable to store urine.
Bladder exstrophy is the most common of a larger group of birth defects called the bladder exstrophy-epispadias (EK-stroh-fee-ep-ih-SPAY-dee-us) complex (BEEC). Defects resulting from this complex range from mild to severe. Bladder exstrophy itself also has a range of severity and, in addition to the abnormalities in the bladder, genitals and pelvic bones, may include defects in the intestines and reproductive organs.
Often doctors will identify bladder exstrophy on an ultrasound during pregnancy. Sometimes, though, the defect isn’t visible until after the baby is born.
Surgeons treat bladder exstrophy after birth. Surgical repair is usually done at age 3 months or later. Sometimes two or more procedures are needed. Some children require additional surgery around age 4.
With surgery, and sometimes with medication, many children achieve bladder control (continence).
Bladder exstrophy is the most common of a larger group of birth defects called the bladder exstrophy-epispadias complex (BEEC). As the fetus grows, a structure called the cloaca (klo-AY-kuh) â€” where reproductive, urinary and digestive openings all come together â€” does not develop properly. The resulting defects can range greatly in severity depending on the age of the fetus when the developmental error occurs. If your child has BEEC, he or she will have one of the following:
Epispadias: This is the least severe form of BEEC, in which the tube to expel urine (urethra) does not fully develop.
Bladder exstrophy: This is the most common form of BEEC. Bladder exstrophy means that the bladder is formed on the outside of the body and is turned inside out. Usually bladder exstrophy will involve organs of the urinary tract, as well as the digestive and reproductive systems. The condition can include specific defects of the abdominal wall, bladder, genitals, pelvic bones, final section of the large intestine (rectum) and opening at the end of the rectum (anus).
Children with bladder exstrophy will also have a condition called vesicoureteral reflux, in which urine flows the wrong way â€” from the bladder back up into the tubes that connect to the kidneys (ureters). Children with bladder exstrophy also have epispadias.
These defects are treated through surgical procedures that repair the affected organs, muscles and bones.
Cloacal exstrophy: Cloacal exstrophy (KLOA-kul EK-stroh-fee) is the most serious form of BEEC, in which the rectum, bladder and genitals did not fully separate as the fetus developed. These organs may not be correctly formed. The pelvic bones are more severely affected as well. The backbone and spinal cord may be affected, as well as the kidneys.
Children born with protruding abdominal organs (omphalocele) likely have cloacal exstrophy. However, an omphalocele (OM-fuh-loh-seel) may occasionally be associated with bladder exstrophy as well. Most children with cloacal exstrophy have spinal abnormalities, including spina bifida.
Bladder exstrophy is often diagnosed before birth using ultrasound or magnetic resonance imaging (MRI). Signs the doctor will look for in the images include:
- Bladder doesn't fill or empty correctly
- Umbilical cord is placed low on the abdomen
- Pubic bones â€” part of the hipbones that form the pelvis â€” are separated
- Smaller than normal genitals
Sometimes the condition can't be seen until after the baby is born. In a newborn, doctors look for:
- Size of the portion of the bladder that is open and exposed to air (bladder template)
- Position of the testicles
- Intestine bulging through the abdominal wall (inguinal hernia)
- Anatomy of the area around the navel
- Position of opening at the end of the rectum (anus)
- How much the pubic bones are separated, and how easily the pelvis moves
Bladder exstrophy in a male infant
Children born with bladder exstrophy are treated with reconstructive surgery following birth. The overall goals of reconstruction are to provide enough space for urine storage, create outer sex organs (external genitalia) that look and function acceptably, establish bladder control (continence), and preserve kidney function.
Doctors will choose one of two basic approaches:
ï»¿Complete primary repair of bladder exstrophy (CPRE): CPRE surgery is performed in one procedure, usually after the baby is three months old.(15) Surgeons close the bladder and the abdomen and repair the urethra and outer sex organs.
Most surgery for newborns will include repair to the pelvic bones (pelvic osteotomy). However, doctors may choose not to perform an osteotomy if the baby is less than 72 hours old, the pelvic separation (pubic diastasis) is small, and the infant's bones are flexible.
Modern staged repair of bladder exstrophy (MSRBE): MSRBE involves three operations, usually within 72 hours after birth, at age 6 to 12 months and again at 4 to 5 years. The first closes the bladder and the abdomen, and the second repairs the urethra and sex organs. Then, when the child is old enough for toilet training and can participate in a "voiding program," surgeons will perform bladder neck reconstruction. Most, but not all, children will be able to achieve continence, but they sometimes may need to have a tube inserted into their bladder to drain urine (catheterization).
After surgery, doctors will need to keep your child immobilized and will manage his or her pain.
Immobilization: Following surgery, infants will need to be held still in traction while healing. The amount of time a child needs to be immobilized varies. Infants undergoing initial surgery to close their bladder may be immobilized for three to six weeks. Children who are older or having a second bladder closure may need to be immobilized up to eight weeks, but may be able to recover at home.
Pain management: New, regional anesthesia techniques allow doctors to place a thin tube (catheter) into the spinal canal (epidural space) during surgery and leave it in place for up to 30 days. This approach provides more consistent pain control and requires less use of opioid medications than previously.
Potential future treatments
Doctors continue to develop innovative approaches to surgery, including using new equipment such as robotic surgical devices and new materials such as 3-D printing to create models for surgical planning. Doctors also continue to evaluate the success of approaches in achieving continence. Achieving bladder continence can be a long-term process. Future studies are needed to better define what people with bladder exstrophy find to be an acceptable level of continence.
Doctors aren't sure what causes bladder exstrophy. As with similar problems, it appears to result from a combination of genetic and environmental risk factors.
- Genetic factors: Recent studies indicate that the master control gene ISL1 is probably a susceptibility gene for bladder exstrophy. A susceptibility gene is one that is likely the cause of a specific disease or disorder. This gene is also important in regulating urinary tract development.
- Environmental factors: Some research suggests associations with the age of the mother, assisted reproduction, use of the hormone progesterone during pregnancy and smoking during pregnancy, but no cause and effect has been determined.
Factors that increase the risk of 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 males than females are born with bladder exstrophy.
If not treated, children with bladder exstrophy will have an inability to hold urine (urinary incontinence) and an increased risk of bladder cancer. They're also at risk of sexual dysfunction.
Surgical treatment can reduce complications, depending on the severity of defects. Many children who have surgical repair are able to hold urine (continent). Young children with bladder exstrophy may walk with their legs turned somewhat outward, due to the separation of their pelvic bones.
People born with bladder exstrophy can go on to have normal sexual function, including the ability to have children. However, pregnancy will be high risk for both mother and baby. It's possible for pregnant women with bladder exstrophy to choose a vaginal birth, although it may be complicated by the condition of her cervical tissue. A planned cesarean section is likely to be the preferable option.
Jan. 23, 2018
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