Understanding Bladder Exstrophy in Children

Bladder exstrophy is a rare anatomical abnormality that is diagnosed at birth.

The bladder and nearby pelvic structures aren’t formed correctly. Instead of being round, the bladder is flat, and the skin, muscle and pelvic bones that connect the abdomen together are not properly formed, exposing the bladder to the outside abdomen.¹

The muscles and bones that are supposed to join these structures together and support them are also deficient. Bladder exstrophy occurs in around 2.07 per 100,000 live births, and is somewhat more common in males than females.

If one of your kids has this condition, the risk of the next one having it is one in 100. If you as the parent have exstrophy, the risk is one in 70 that your children will have it.²

Assisted reproduction babies have a seven times greater risk than in children conceived naturally/without assistance.

Other associated birth defects in girls can include:

Weakened and misshapen muscles in the lower abdominal wall
Widened pubic bones
A displaced belly button
Short urethra
Wide-spread labia
Narrow vaginal opening
Legs and feet that are rotated outward

Theories of why bladder exstrophy occurs in girls

We currently don’t know why bladder exstrophy occurs, but there are some theories. It clearly runs in families. During the 11th week of pregnancy, the embryo changes structurally, with ingrowths of tissue in the lower abdomen wall. This stimulates further growth of muscles and pelvic bones.

The bladder and rectum at this stage are contained within cloacal membrane tissue. The rectum then separates from the bladder, and in these foetuses, the cloacal membrane can rupture, creating the exstrophied bladder.

The timing of this premature rupture matters – it determines if a child is born with an isolated epispadias, classic bladder exstrophy or cloacal exstrophy.

Children born with classic bladder exstrophy tends to be an isolated abnormality, but about 13 per cent of these kids are born with spinal cord abnormalities. There is nothing parents could have done differently during pregnancy to stop this.

Diagnosis of bladder exstrophy

Bladder exstrophy will be obvious at birth, and can be detected in routine sonograms.^3,4

Treatment of bladder exstrophy

If a sonogram has detected this condition, a pediatrician or surgeon will be able to do an immediate assessment. If the diagnosis is made after birth, the baby will be transferred directly to a specialist care unit immediately.⁵

The bladder will be visible on the outside of the baby’s body. Assessments of the baby’s genitals and pelvis will be made to determine the extent of the condition.

Surgery for bladder exstrophy

Surgery is the treatment for this bladder exstrophy, with several options available. Each case will be evaluated depending on the severity of the exstrophy.

The point of surgery is to close the bladder, urethra and pelvis, and achieve a normal-looking pelvis and genitals, at least as much as possible, while retaining function.

Keeping the urinary system flowing properly is of primary importance. The operations are often staged, as the child grows and various milestones are reached.⁶

Urinary diversion may be required if the staged treatment doesn’t work or isn’t possible. Read more about bladder exstrophy repair surgery

Staged reconstruction after bladder exstrophy

Closing the bladder and pelvis in the newborn
Reconstruction of the epispadiac urethra at six months
Bladder neck surgery for continence when the bladder reaches a certain level of capacity, and the child is ready (psychologically) to be dry – usually around four or five years old
Sometimes further operations are needed to improve continence, and almost always to improve the appearance of the external genitalia

Outcomes of bladder exstrophy

These surgeries should only be done by very experienced surgeons, as they can be technically quite complex. The outcomes of surgery are well-documented and when the bladder has sufficient capacity, continence is achievable in between 73 and 78 per cent of cases.

The initial surgeries help determine this, but also the quality of the bladder in the first place. If the bladder is not in good condition at birth, other treatment options are used.

So far, it is deemed ‘exceptionally rare’ for patients to reach their late teens without being fully continent and having good-looking genitals. There are no limits on lifestyle, life expectancy, or further troubles as an adult, so long as it is dealt with properly as a child.^7–9

Children born with bladder exstrophy often have other problems, which could include epispadias, vesicoureteral reflux, pubic diastasis, small bladder capacity, or a missing bladder neck and sphincter. These will all be dealt with on a case-by-case basis.

The role of natural medicine in bladder exstrophy

Because bladder exstrophy is an anatomical abnormality that involves structural differences, there is a limited role for natural medicine and alternative therapies.

Natural medical support could include herbal treatments for bladder and urinary tract, to help strengthen and protect the urinary tract surfaces.

Healing after surgery can be supported very well using natural treatments, to boost wound healing capabilities and promote proper tissue formation.

These wound-care treatments can also reduce scarring. Boosting the immune system after surgery is also important, especially in a vulnerable youngster. This can be achieved with non-invasive acupressure treatments, for example using reflexology on the feet, hands or ears.

Reflux can be assisted using herbal medicines and other treatments. If a child has ongoing health problems as a result of the bladder exstrophy being complex, and surgical solutions were inadequate for the circumstances, ongoing care by a natural medicine practitioner (or team of practitioners) as well as a medical doctor may be appropriate.

References

1.
Siffel C, Correa A, Amar E, et al. Bladder exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature. American J of Med Genetics Pt C. Published online October 14, 2011:321-332. doi:10.1002/ajmg.c.30316
2.
Nordenskjöld A, Arkani S, Pettersson M, et al. Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy. American J of Med Genetics Pt A. Published online November 8, 2022:378-390. doi:10.1002/ajmg.a.63031
3.
Lee E ‐H., Shim JY. New sonographic finding for the prenatal diagnosis of bladder exstrophy: a case report. Ultrasound in Obstet &amp; Gyne. Published online April 8, 2003:498-500. doi:10.1002/uog.114
4.
Wolniakowski A, Szlachetka K, Thornburg LL. Prenatal Diagnosis of Bladder Exstrophy. Journal of Diagnostic Medical Sonography. Published online December 30, 2013:88-91. doi:10.1177/8756479313518108
5.
Promm M, Roesch WH. Recent Trends in the Management of Bladder Exstrophy: The Gordian Knot Has Not Yet Been Cut. Front Pediatr. Published online March 29, 2019. doi:10.3389/fped.2019.00110
6.
Agbara K, Moulot O, Ehua M, et al. Bladder exstrophy: Modern staged repair experience in our institution. Afr J Paediatr Surg. Published online 2022:167. doi:10.4103/ajps.ajps_167_20
7.
Quality of life in young adult patients treated for bladder exstrophy. CEJU. Published online 2016. doi:10.5173/ceju.2016.715
8.
Canalichio KL, Ahn J, Artigas P, et al. Patient-reported outcomes in adult females with bladder exstrophy: A study of long-term sexual, reproductive and urinary outcomes using social media. Journal of Pediatric Urology. Published online October 2020:567.e1-567.e7. doi:10.1016/j.jpurol.2020.06.020
9.
Giron AM, Passerotti CC, Nguyen H, Cruz JAS da, Srougi M. Bladder exstrophy: reconstructed female patients achieving normal pregnancy and delivering normal babies. Int braz j urol. Published online October 2011:605-610. doi:10.1590/s1677-55382011000500006