Madisons Foundation - Moms And Dads In Search Of Needed Support

What

Classic bladder exstrophy is a congenital malformation in which the bladder is essentially opened flat and turned “inside out” so that the wall of the bladder is exposed to the outside of the abdomen. The skin, bones, and muscles overlying the bladder are improperly formed, such that the lower central abdomen is made up by the inner mucosal lining of the bladder. As a result, urine drains out onto the abdominal wall.

Who

Bladder exstrophy is a rare disorder that is slightly more likely to affect males than females. In the general population, it occurs in 1 in 30,000 live births. However, if a parent has bladder exstrophy, the risk of a baby having it jumps to 1 in 70; likewise, if a sibling has the condition, the risk of another child being born with it is 1 in 100. Those who live in the Western US have a lower incidence of occurrence, and those of Caucasian background have a higher incidence of extrophy. The incidence of exstrophy appears to have stayed the same over time.

Signs and Symptoms

An exstrophic bladder is marked by the presence of a pink triangle-shaped bladder wall on the external abdomen—the exposed mucosal lining of the bladder wall is likely to become chronically inflamed and/or infected. Another major physical finding associated with bladder exstrophy is a widening of the pelvic bones (known as diastasis) and outwardly turned legs, which may lead to a waddling gait when the child is walking. In addition, due to the presence of the bladder where the abdominal muscles usually are, those muscles are pushed aside and shaped abnormally in children with bladder exstrophy. The belly button is likewise displaced or not visible. Bladder exstrophy is almost always accompanied by epispadias, where the urethra, the tube through which urine passes from the bladder to the outside of the body, is not properly formed. In males, this presents as a shortened penis with a urethral opening for urine along the top of the penis instead of at the tip. Females with epispadias present with a narrow vaginal opening, wide vaginal labia, and a short urethra. Babies with bladder exstrophy are usually also missing a bladder neck, which is the funnel-shaped portion of the bladder that contains the muscles involved in bladder control and continence. As a result, bladder control is usually not possible without surgery. The ureters, or the tubes that connect the kidneys to the bladder, are frequently abnormal and may result in urine reflux to the kidneys. This may increase the chance of urinary tract infections.

Possible Causes

There is no known cause of bladder exstrophy, but experts believe that it results from developmental abnormalities somewhere in the 4th-11th weeks of pregnancy, when the organs, muscles, and other tissues begin to form recognizable structures. Bladder exstrophy is believed to result from failure of the tissue overlying the bladder to close properly, or from rupture of the tissue which normally holds the bladder closed. It has not been linked to anything a parent did or didn’t do during pregnancy. Research is currently being conducted to determine a cause.

Diagnosis

Diagnosis of bladder exstrophy is usually obvious with physical examination at birth, but it may also be made prenatally by fetal ultrasound. If the condition is detected prenatally, an arrangement can be made for a pediatrician and surgeon to be available for consultation immediately after birth. If bladder exstrophy is first detected at birth, a surgical consultation should be arranged as soon as possible.

Treatment

In most cases, bladder exstrophy is treated surgically in three stages, known as staged reconstruction: 1) bladder salvage, or the closure of the bladder and abdominal wall within 24-48 hours after birth, 2) reconstruction of genitals to improve their appearance and help allow toilet training, done from 6 months to 2 years of age, and 3) bladder neck surgery to enable full toilet training (urinary continence) at 4-5 years of age. With recent advances, however, all three surgical steps may be combined into one more complex procedure (complete primary repair) shortly after birth, depending on the severity of the condition, the child’s health and history, the child’s tolerance for the procedures, and family preferences. However, additional surgery may be required to further improve continence and appearance of genitals. When bladder reconstruction is not possible because the bladder itself is no longer functional, a procedure called urinary diversion is the treatment of choice. Urinary diversion is essentially the rerouting of the normal flow of urine to, most often, the small intestine or colon. The decision as to whether to treat bladder exstrophy with staged reconstruction or with urinary diversion should be made in consultation with a pediatrician and surgeon.

Prognosis

With surgery, the outcomes of patients born with bladder exstrophy are extremely positive. The results of staged reconstruction have been well-documented. With modern advances in reconstructive surgery, up to 90% of children achieve continence and have cosmetically acceptable genitalia by late adolescence. They are usually able to move normally despite the initial abnormalities in the pelvis, and are very well able to develop into individuals with normal life expectancies and no real lifestyle restrictions.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Association for the Bladder Exstrophy Community
Support network with Q&A/glossary, printable information pamphlets, links to financial resources, and support group information for families.

American Urological Association
General information and glossary, plus links to national databases of clinical trials and help with finding an urologist.

Children’s Hospital Boston: Center for Exstrophy
Information about services and support groups at the nation’s preeminent center for care of children with bladder exstrophy.

Google Search for Bladder Exstrophy

References and Sources

Tanagho EA and McAninch JW (2004). Chapter 36 Disorders of the Bladder, Prostate, & Seminal Vesicles: congenital Anomalies of the Bladder. Smith’s General Urology. www.accessmedicine.com/content.aspx?aID=227481. Way LW and Doherty GM (2003). Chapter 41 Urology: Developmental Anomalies of the Genitourinary Tract. Current Surgical Diagnosis and Treatment. www.accessmedicine.com/content.aspx?aID=376087. Nelson CP, Dunn RL, and Wei JT (2005). Contemporary epidemiology of bladder exstrophy in the United States, J Urol, 173:5, p 1728-31.