Bladder exstrophy is a malformation in which the bladder does not develop into a hollow organ. Instead, it takes the form of a plate and lies exposed on the abdominal wall, making it visible from the outside. In most cases, this condition is also accompanied by a deformity or protrusion of the external genitalia.
Here you will find further information as well as a selection of bladder exstrophy specialists and centers.
Bladder exstrophy is part of what is known as the bladder exstrophy-epispadias-exstrophy complex (BEEK). It is a comprehensive multiorgan anomaly, meaning an abnormal development of multiple organs.
Bladder exstrophy is therefore often accompanied by malformations of the pelvic bones or the abdominal muscles.
The condition is more prevalent in certain parts of the world, suggesting that regional factors may play a role in its occurrence.
The risk of a newborn developing bladder exstrophy is approximately 1 in 30,000 worldwide. This makes bladder exstrophy a rare malformation. Boys are affected about twice as often as girls.
Causes and Development of Bladder Exstrophy
No undisputed explanation for the onset of this malformation has yet been found. In its classic form, bladder exstrophy is an isolated condition that is already present at birth.
When associated with other congenital anomalies, a genetic cause is likely. If both parents have bladder exstrophy, the risk of the child having the condition increases from 1 in 30,000 to 1 in 70.
In terms of pathogenesis (the development of the disease), the condition initially involves a malformation of the lower abdominal wall. According to current medical knowledge, this malformation occurs during embryonic development.
Due to a rupture (tear) in the abdominal wall, the bladder is not located inside the body but is exposed. As a result, the openings of the ureters are usually visible from the outside.
Symptoms of Bladder Exstrophy
This malformation presents a wide range of symptoms. Key findings include
- the visibility of the bladder,
- the rupture in the lower abdomen,
- a plate-like shape of the bladder.
In addition, there are many other clinical signs, though they do not necessarily always occur together. The bladder exstrophy-epispadias-exstrophy complex presents with a relatively consistent clinical picture. The bladder, urethra, and pelvis are visible due to the absence of a closure in the lower abdominal wall.
The ureters are not properly connected and are patent. In addition, malpositioning of the navel may occur.
In most cases, boys also have a split urethra along the dorsal side of the penis (epispadias). Girls, on the other hand, have a split clitoris, and the urethra is also split in these cases.
Possible Consequences of Bladder Exstrophy
Affected individuals have an increased risk of developing urinary tract infections. Due to the exposed location of the bladder complex, the urinary organs are unprotected against pathogens. Closing the abdominal wall is therefore essential.
Furthermore, patients with bladder exstrophy typically suffer from incontinence (weak bladder control). The abnormal arrangement of the organs and connecting pathways prevents control over urinary function. Urine flows immediately when the bladder fills.
In addition, kidney damage is often present at birth. As the condition progresses, chronic kidney problems cannot be ruled out.
Furthermore, the malformation also affects sexual function. Bladder exstrophy contributes to erectile dysfunction and other sexual dysfunctions. It also almost always causes significant psychological distress for the affected patients.
Diagnosis of Bladder Exstrophy
Bladder exstrophy can be diagnosed as early as during pregnancy using an ultrasound examination. If the results are abnormal, parents are advised to deliver the baby at a specialized clinic. There, urologists and surgeons can immediately begin treating the malformation after birth.
By the time of birth at the latest, the signs are unmistakable, so the condition is usually identified immediately through visual examination.
Ultrasound can detect malformations of the bladder exstrophy-epispadias-exstrophy complex as early as during pregnancy © Nejron Photo | AdobeStock
Treatment of Bladder Exstrophy
The presence of bladder exstrophy is a urological emergency and must be treated surgically within 72 hours. Depending on the severity of the malformation, several surgeries are usually necessary to correct the condition.
To protect the body from infection, the bladder is closed, and the abdominal wall is also sutured shut.
A second surgery usually takes place between the ages of two and five. This procedure restores urinary continence. Additionally, the malformed genitalia are reconstructed.
The following goals are to be achieved through these surgeries:
- Closure of the open areas of the bladder and pelvis
- Creating external genitalia that are as normal as possible in girls
- Providing a functional penis in boys
- Establishing urinary continence and supporting kidney function
Prognosis
These surgeries usually result in a significant improvement in the complex of symptoms. However, to enable patients to lead a largely symptom-free life, further surgeries are generally necessary. For example, continence may be lost again later on.
In some cases, a procedure to augment (enlarge) the bladder may also be required.
Living with Bladder Exstrophy
With early detection and treatment of these issues, the quality of life for those affected can be improved and secured for the future.
By
- restoring continence,
- closing the abdominal wall, and
- reconstructing the genitals,
, both physiological and psychological negative consequences are intended to be reduced.
Nevertheless, there is a risk that these early childhood surgeries may impair supportive functions. Those affected should therefore remain in contact with specialists whenever possible.
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