What is bladder extrophy?
Bladder extrophy is a congenital defect consisting of a malformation of the bladder and urethra, in which the bladder is exposed outside the abdomen. The portions just below the bladder called the bladder neck and external urethral sphincter are responsible for urinary continence, as they remain closed when the bladder fills with urine. In bladder extrophy, the urethra and genitalia are also not completely formed. The urethra opens in the dorsal portion of the penis (epispadias) and the vagina and anus are displaced anteriorly. In addition, the pelvic bones are separated (diastasis).
What causes bladder extrophy?
The cause of extrophy is unknown. The problem starts around 4-10 weeks of gestation, when various organs, tissues and muscles begin to form. Bladder extrophy is NOT hereditary and does not occur through the responsibility of the mother or father. Bladder extrophy is treated surgically after birth. You should be aware that each child with extrophy must be individualized and your urologist's treatment may not be the same as that offered to another child.
- Bladder extrophy is seen in 1 out of every 30,000 to 50,000 live births
- Bladder extrophy occurs more frequently in males, in a ratio of 2 to 1;
- The risk of having a second child with bladder extrophy is around 1 in 100 and 1 in 70 if one of the parents has extrophy.
How is bladder extrophy treated?
Bladder extrophy requires surgical repair, which can be in a single stage or in stages. Reconstructions aim to achieve the following results:
- closure of the bladder and abdominal wall,
- reconstruction of the urethra,
- kidney preservation,
- preservation of sexual function,
- Provide a satisfactory aesthetic appearance for the genitalia,
- Offer urinary continence. There are usually 3 stages of reconstruction, which can be carried out at different times or in the same surgical procedure (depending on the patient and the surgeon's preference): If at different times:
Stage 1 - Closure of the bladder and abdomen (24-48 hours of life).
2nd stage - Repair of epispadias (2-3 years of life).
3rd stage - Correction of urinary incontinence (4-5 years old).
Other procedures that often need to be performed together are bladder and bowel augmentation, ureter re-implantation and the Mitrofanoff procedure.
Disorders associated with bladder extrophy:
Epispadias - The final portion of the urethra in this case does not form completely. In boys, the penis is flattened, directed and curved towards the abdomen, with the urethra opening onto the upper surface of the penis. In girls, the urethra opens in the region of the duplicated clitoris and labia minora.
Vesicoureteral reflux - Urine is produced by the kidneys, travels down tubes called ureters and is stored in the bladder. Normally urine travels in only one direction: from the bladder to the urethra and out of the body. Reflux is the condition in which urine returns from the bladder to the kidneys. Reflux becomes serious when the urine returning to the kidneys is infected, which can damage them, resulting in a loss of kidney function. Many children grow up with reflux without any major problems, but others need reconstructive surgery. Some children are given daily low-dose antibiotics for a period of time.
Pubic diastasis - Separation of the pubic bones, which does not allow the bladder to remain inside the body.
Low bladder capacity - All extrophic bladders are small at birth, some smaller than others. How much the bladder will grow in the future cannot be estimated. Successful closure of the bladder and abdomen and correction of epispadias provide the conditions for the bladder to increase its capacity. Only time will tell.
Alteration in the urethral sphincter - The urethral sphincter in extrophy does not surround the entire urethra, resulting in urinary incontinence.
Will bladder extrophy affect my son or daughter's health or development?
In most cases, children are healthy with normal intelligence, as well as normal physical and social development. Your child may have a waddling or waddling gait, which becomes less obvious as they grow. Special care will be needed for urinary control.
One father of a child with bladder extrophy aptly described it: "Your child's future is as bright as any other."
How does the urinary system work?
The urinary system consists of two kidneys, two ureters, a bladder, sphincters (used to hold urine and prevent urine leakage) and a urethra. The kidneys serve to cleanse the blood by producing urine, removing excess substance and fluid and helping to control blood pressure. The ureters are tubes that drain urine into the bladder, where it is stored. When the bladder is full, it contracts and the sphincter opens, allowing urine to pass freely into the urethra and subsequently out of the body.
The male patient:
The boy may have a short, curved penis with a flattened appearance. The opening of the urethra is epispadias (on the upper surface of the penis). The patient may have a bilateral inguinal hernia. The testicles may not be in the scrotum. If there are hernias, they will be repaired. Reconstructive surgery will be performed to repair the penis in order to make the genitalia functional and cosmetically acceptable.
The female patient:
The girl will usually have a normal uterus, fallopian tubes and ovaries. The vagina may be slightly higher and narrower. The clitoris is separated into two parts and the vaginal lips are far apart. Reconstructive surgery will be performed to reconstruct these defects, which will make the genitalia cosmetically acceptable. In adulthood, she will be able to have normal sexual intercourse. Almost all women are able to conceive. When ready to have a child, medical care is indispensable, as there is an increased risk of uterine prolapse. This is not dangerous when monitored carefully.