Bladder exstrophy is a malformation in which the bladder is not formed into a hollow organ. Instead, it takes the form of a plate and lies open on the abdominal wall so that it is visible from the outside. In most cases, a deformation or protrusion of the external genitalia also occurs in this context.
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Bladder exstrophy is part of the so-called bladder exstrophy-epispadias-ecstrophy complex (BEEK). It is a comprehensive multi-organ anomaly, i.e. an abnormal development of the organs in several cases.
Bladder exstrophy is therefore often associated with malformations of the pelvic bones or abdominal muscles.
The clinical picture occurs more frequently in some parts of the world. Regional factors therefore appear to favor its occurrence.
The risk of a newborn child developing bladder exstrophy is around 1 in 30,000 worldwide, making bladder exstrophy a rare malformation. Boys are affected about twice as often as girls.
No undisputed explanation has yet been found for the occurrence of the malformation. In its classic form, bladder exstrophy is an isolated phenomenon that is already present at birth.
In combination with other malformations, a genetic cause is likely. If both parents are affected by bladder exstrophy, the risk of a malformation in the child increases from 1 in 30,000 to 1 in 70.
As part of the pathogenesis (development of the disease), there is initially a maldevelopment of the lower abdominal wall. According to current medical knowledge, the faulty arrangement occurs during embryonic development.
Due to a rupture (tear) in the abdominal wall, the urinary bladder is not located inside the body but is exposed. The ureteral openings are therefore usually visible from the outside.
The malformation has a broad spectrum of symptoms. The main abnormalities are
There are also many other signs of the disease, although these do not necessarily always occur together. The bladder ecstrophy-epispadias-ecstrophy complex is characterized by a relatively uniform clinical picture. The bladder, urethra and pelvis are visible due to the lack of closure of the lower abdominal wall.
The ureters are not properly connected and are permeable. There is also a malpositioning of the umbilicus.
In most cases, boys also have a bifurcation of the urethra at the back of the penis(epispadias). Girls, on the other hand, suffer from a split clitoris, whereby the urethra is also split here.
Those affected have an increased risk of contracting urinary tract infections. Due to the exposed position of the bladder complex, the urinary organs are exposed to pathogens without protection. Closure of the abdominal wall is therefore essential.
Furthermore, patients with bladder exstrophy usually suffer from incontinence (bladder weakness). The faulty interlinking of the organs and connecting pathways prevents control of the excretory function. Urine flows immediately when the bladder is filled.
In addition, kidney damage is often already present at birth. Later on, permanent kidney problems cannot be ruled out.
The deformity also impairs sexuality. Bladder exstrophy only promotes erectile dysfunction and sexual dysfunction. It also almost always leads to a major psychological burden for the affected patients.
Bladder exstrophy can be diagnosed during pregnancy by means of an ultrasound examination. If the results are abnormal, parents are recommended to give birth in a specialist clinic. Here, urologists and surgeons can take care of the treatment of the malformation immediately after the birth.
The signs are clear after the birth at the latest, so the findings are usually determined immediately by visual diagnosis.
Using ultrasound, malformations of the bladder ecstrophy-epispadias-ecstrophy complex can be detected during pregnancy © Nejron Photo | AdobeStock
The presence of bladder exstrophy is a urological emergency and must be treated surgically within 72 hours. Depending on the severity of the deformity, several operations are usually necessary until the deformity is corrected.
In order to protect the organism from germs, the bladder is closed and the abdominal wall is also closed.
A second operation usually follows between the ages of two and five. Here, urinary continence is restored. In addition, the malformed genitals are reconstructed.
The following goals should be achieved during the operations:
The operations usually bring about a significant improvement in the problem complex. However, further operations are usually necessary to enable patients to lead a largely symptom-free life. For example, continence may subsequently disappear again.
In some cases, an operation to augment (enlarge) the bladder may also be necessary.
If the problem is recognized and treated early, the quality of life of those affected can be improved and secured for the future.
By
both physiological and psychological negative consequences can be reduced.
Nevertheless, there is a risk of a reduction in support functions as a result of early childhood surgery. Those affected should therefore remain in contact with specialists wherever possible.
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