Bladder extrophy is caused by an error in the fetal development processes that lead to the correct formation of the lower abdominal wall. In patients with bladder extrophy, in fact, there is a failure to close the lower abdomen.
Diagnosed before birth, bladder extrophy always requires surgical therapy with reparative / reconstructive purposes.
Bladder exstrophy is a very rare congenital defect; in fact, one person in every 20,000-50,000 is born with bladder exstrophy.
For reasons still unknown, bladder exstrophy is decidedly more frequent in the male population than in the female one; in this regard, statistics say that for every single female with bladder exstrophy there are from 3 to even 6 males with the same congenital anomaly ( ratio 3-6: 1 in favor of males).
Still for reasons still to be clarified, bladder exstrophy has a predilection for individuals with white complexion.
Among the congenital defects that fall within the so-called bladder-epispadias complex, bladder exstrophy is the most common and the one of intermediate severity.
Synonyms
Bladder exstrophy has several synonyms, including: bladder ectopy, exposed bladder and bladder extrophy.
, of the process of formation and closure of the lower abdominal wall.For the fetus, in fact, the correct process of formation and closure of the lower abdominal wall is essential to complete the anatomy of the underlying internal organs.
Hypothesis on the Causes of Bladder Extrophy
Based on the scientific research conducted so far, it seems that the fetal failure of the lower abdominal wall is due to an error in the evolution process of the cloacal membrane, between the 4th and 6th week after conception.
If this were the case, then, bladder exstrophy would be a very early congenital defect, that is, it occurs in the very early stages of human embryogenesis.
Curiosity
Recent studies, yet to be proven, suggest that:
- The ISL1 gene would be a susceptibility gene for bladder exstrophy. In genetics, a susceptibility gene is a gene suspected of having a pivotal role in the appearance of certain diseases or conditions.
- Bladder exstrophy would be related to environmental factors, such as: the mother's advanced age, assisted reproduction, the mother's use of progesterone during pregnancy and smoking during pregnancy.
Bladder Extrophy and Inheritance
Currently, there is insufficient evidence to support the thesis that "bladder exstrophy has a" hereditary origin.
However, it is a fact that, often, people born with bladder exstrophy:
- They belong to families, in which there is a certain recurrence of defects belonging to the bladder exstrophy-epispadias complex;
- They are more likely than healthy people to have children with similar malformations as theirs.
Risk factors
The risk factors for bladder exstrophy include:
- Family history. As stated above, bladder exstrophy appears to be a heritable defect;
- Membership of the Caucasian population;
- The male sex.
Curiosity
In bladder exstrophy, the inability to pass urine is due to a malformed bladder neck and the lack of an effective bladder sphincter (N.B: the bladder sphincter is the muscle used to let urine out of the bladder).
Additional features
Almost always, to the malformation of the bladder, bladder extrophy adds other anatomical anomalies, such as:
- The abnormal union of the ureters to the bladder. In individuals with bladder exstrophy, the ureters are often joined to the bladder at a point other than normal;
- The separation of the pubic bones of the pelvis. In healthy individuals, the right pubis merges with the left pubis, resulting in a "joint called the pubic symphysis;
- The navel in a lower position than normal;
- The anus in a more advanced position than normal;
- The presence of inguinal or umbilical hernias;
- In males, failure of the testicles to descend into the scrotum (cryptorchidism);
- In females, the presence of a poorly positioned and narrower than normal vaginal orifice, the so-called bifid clitoris and divergent large and small labia.
Patients with bladder extrophy may have one, some, or all of these additional abnormalities; com "is understandable, the more anomalies there are in addition to those of the bladder and the greater the degree of severity of the bladder exstrophy.
Associated Conditions
In males almost always and in females only in some cases, bladder exstrophy is associated with epispadias. Representing the less serious condition of the so-called bladder extrophy - epispadias complex, epispadias is the congenital malformation of the urethra, such that the latter, thanks to its inadequate development, ends in a different place than normal.
Complications
Epidemiological studies have shown that those born with bladder exstrophy present, in adulthood, a greater risk of bladder cancer and suffering from sexual dysfunction.
?In a fetal ultrasound, the characteristic signs of bladder exstrophy are:
- The inability of the bladder to fill and / or empty properly;
- The umbilical cord positioned lower than normal;
- The separation of the pubic bones of the pelvis;
- The presence of smaller than normal genitals.
Assessments at birth in subjects with Bladder Extrophy
In order to establish the characteristics of bladder extrophy, doctors evaluate in newborn patients:
- The degree of opening of the bladder and the degree of protrusion on the lower abdominal surface;
- The position of the testicles;
- The presence or absence of an "inguinal hernia;
- The anatomy of the area around the navel;
- The anatomy of the anus;
- What is the degree of separation of the two pubic bones of the pelvis.
Thanks to medical advances, today there is a very effective technique to better manage the pain that arises from bladder extrophy operations.
The technique in question involves the insertion, at the level of the spinal cord, of a special catheter and the use of this instrument to administer analgesics and anesthetics for a period of up to 30 days.
This new technique for pain management, therefore, guarantees a long-term analgesic action, in order to effectively alleviate the suffering of young patients.
Special cases
For some cases of bladder extrophy, the above therapeutic approaches are unsuitable or may undergo small variations, depending on the difficulties that may arise from a certain type of operation.
For example, in some circumstances, reconstruction of the bladder neck and bladder sphincter is impossible, requiring bladder catheterization.
Surgery in later life: when is it needed?
Sometimes, the treatment of bladder exstrophy continues even in adulthood, always with reconstructive surgery and always with the aim of improving the functionality of the bladder and any other organs that were malformed at birth.
