Epispadia and exstrophy of the bladder. Treatment, rehabilitation

What happiness for parents when their baby is born healthy. Unfortunately, this is not the case with everyone. There are dozens of congenital malformations, from the very first moments of the baby's appearance, threatening his life. One of the most severe - bladder exstrophy. According to statistics, it is extremely rare and is registered in about 1 case for 30,000 live births. This is an average value, because in some areas the number of children with such a vice can rise to 1:10 000 or go down to 1:50 000. But parents faced with such a problem do not care about statistics, it is important for them to save the child's life and grow it Full-fledged person. What kind of anomaly is this and what are the chances of the babies born with it?

How is the urinary system of man

It is better to understand what bladder exstrophy is, help to know the proper structure of the urinary system. Simplified it looks like this: from the kidneys when filtering blood, urine is released, which enters the bladder through the ureters. It is a hollow organ that can stretch, which allows the liquid in it to accumulate up to certain limits and only then be displayed outward through the urethra. In the place where this channel begins, and the bladder ends, there is a special muscle called the sphincter. Its purpose is to prevent the flow of urine spontaneously. The bladder is located in the lower abdomen, in the pubic region. Like all internal organs, it is covered from the external world by the tissues of the body, in particular by the anterior wall of the peritoneum. Its own walls consist of several layers - mucous, submucosal, muscular, others - and are permeated with multiple blood vessels that determine its color. The rectum is located in the immediate vicinity of the bladder, but their walls and layer of tissues interfere with the mixing of urine and stool.

External characteristics of pathology

Exstrophy of the bladder is diagnosed with the naked eye from the first moments of a child's life. In this pathology, there is no peritoneal site, that is, there is an opening in the pubic region, the size of which can vary from 3 to 12 cm. As a result of this pathology, the bladder is outside the body. Its anterior wall is also absent, but the work of the ureters is not disturbed. The urine entering them from the kidneys is excreted by drops or trickles into what is left of the bladder, and then through the hole in the peritoneum it comes out. There is no bleeding, since the edges of the dissections of the walls of the abdomen and the bladder are formed and do not have damaged blood vessels. However, the open mucosa is always easily injured even from the diaper. Other visible defects - too low a position of the navel or its complete absence and a higher position of the anus. One of the imperceptible at first glance defects is the divergence (rotation) of the pubic bones. From the norm, this figure can differ significantly (the difference is up to 7 cm), which subsequently greatly changes the gait. Patients who did not correct this deviation in time, move about, swaying from side to side (like a duck). Despite the complexity of the pathology, the newborn is fully viable, active and with good treatment has a good chance.

Epispadia

This congenital malformation can be independent, but very often it is a concomitant additional defect in those who have bladder exstrophy. Epispadia is the splitting of the urethra wall . It is incomplete (only the tip is split) or total (the urethra is completely split from the outer edge to the bladder). Treatment of this defect is performed only surgically, and if epispadia is an independent disease, the operation of the child is done only after reaching the age of 1-3 years, but in cases when the vice accompanies bladder exstrophy, which requires immediate intervention, the epispadia removal operation can be performed in more Early terms.

Causes

The exact answer to the question of why there is bladder exstrophy in children is not yet available. Scientists only managed to find that pathology takes place if in the period of the formation of organs and tissues (4-5 weeks after conception) the embryos suddenly have a failure in the division and union of cells. As a result, the cloacal membrane can not close, and the bladder is outside the body. Why is the process of cell division broken? Experts call common causes for all developmental defects:

• Smoking and drinking alcohol during pregnancy;
• Thyrotoxicosis;
• diabetes;
• infectious diseases;
• Hormonal disorders;
• Hyperplasia of the adrenal glands;
• Side effects of drugs;
• Chemical poisoning and others.

The laboratory established that the appearance of exstrophy in experimental animals was greatly influenced by the effects of drugs with cortisone.

Many experts do not exclude the genetic nature of the disease. Thus, in parents with bladder exstrophy and in families where there are relatives with this illness (uncles, aunts, nephews), the probability of a child with the same deviation is 1:70, and in families , Where there is already a sick child, 1: 100. But at once at both twins this defect is observed seldom and almost never, if they odnoyaytsevye.

Do I need a diagnosis?

By external signs, any doctor from the first seconds of the birth of a child is unmistakably diagnosed with bladder exstrophy. Photos showing how this defect may look like can not be called pleasant, so we do not publish them (quite schematics are enough). It seems that everything is clear, but it is necessary to carry out diagnostics in order to identify all possible accompanying abnormalities. First, urine should be examined for peritoneal fluid and serous exudate.

It is also necessary to do cystoscopy, ultrasound, tomography and endoscopy. Generally, genetic studies are also shown to confirm or exclude Down syndrome and Edwards syndromes.

Malformation of the urinary system in boys

The inexorable statistics says that in boys, bladder exstrophy, and with it epispadias, are observed in 2-5 times more often than in girls. Because of differences in the structure of the genital organs, the congenital pathologies of the urinary system in girls and boys are somewhat different. Concomitant diseases in males in childhood can be cryptorchidism, hypoplasia of the testicles, prostatic aplasia, and later Peyronie's disease (curvature of the penis). Already in infancy, boys with estrophic bladder noticeably reduced significantly, compared with the norm, the size of the penis, in some cases it may not be at all. This is due to the fact that the bony bones, turning, seem to pull up the cavernous bodies, interfering with their connection. If the exstrophy happened in conjunction with epispadia, the boys have a dissection of the glans penis and the anus is closer to the scrotum.

Bladder exstrophy in girls

In women, this disease is extremely rare. Concomitant defects here may be underdeveloped labia and / or vagina, cleavage of the clitoris, displacement of the anus closer to the vagina, up to 1.5 cm lower location of the cervix (in some cases it is clearly visible). In general, children of both sexes have a decrease in the volume of the bladder, lack of a sphincter, improper placement of ureters, problems with the kidneys, liver, spleen, and genetic deviations are possible.

Care for newborns with a pathology of the urinary system

There are 3 degrees of bladder exstrophy:

1. Hole in peritoneum up to 4 cm, concomitant defects are absent.

2. The divergence of the peritoneal and pubic bone tissues to 5-6 cm, there are 1-2 accompanying defects.

3. Several severe accompanying defects (total epispadias, exstrophy of cloaca and others), divergence of peritoneum and pubic bones from 8 cm.

At any degree of deformation, the urine of the child is constantly poured onto the mucous membranes, which causes their inflammation, up to peritonitis and pyelonephritis. Mucous membranes suffer from the touch of diapers, napkins, other cover materials, and from hypothermia, and from loss of mucous moisture. Therefore, bladder exstrophy in newborn babies requires maximum sterility and the creation of acceptable environmental conditions. To avoid infection, babies are urgently given courses of antibacterial therapy and, if possible, put them into kuvezes (small boxes).

Constantly poured urine can lead to dermatitis, as well as provoke papillomata growths that are already in the 3-4 weeks of life of the baby.

Another bad symptom: the child, due to irritations of mucous and severe discomfort, refuses to eat, sleeps poorly and, as a result, lags behind in development.

Treatment

Only surgical treatment at this stage of the development of medicine treats bladder exstrophy. Total epispadia, if it accompanies the aforementioned anomaly, significantly hampers the already serious and dangerous for the baby's life intervention. Operations, as a rule, spend a lot. The first, according to most doctors in the world, you need to do almost immediately after birth, at the age of a child 1-10 days. Its purpose is to create a front wall of the bladder from existing tissues and close it, create a sphincter, reduce the frontal bones, if there are enough skin, close the gap in the peritoneum. If the hole is too large and there are not enough tissues to close it, the use of an artificial film is possible, which is subsequently removed. After this operation, the risk of infection of the urogenital organs disappears, but urinary incontinence persists .

The second operation is performed when the child reaches the age of 1 year, but not later than 2 years. It consists in the plastic of the genitals. In girls, if there are no contraindications, it can be performed with the first intervention. In some clinics, with a second operation, the ureters are transplanted into the sigmoid colon and create an anti-reflux mechanism to relieve the child from urinary incontinence.

The third surgical intervention is performed when the child reaches the age of 5 years. At this stage, form the neck of the bladder, the sphincter, perform other actions that promote retention of urine (if it was not achieved earlier) and the proper development of the genito-urinary organs.

The following operations are carried out according to the indications. In particular, the procedures for restoring urine retention in girls are performed even at 16 years, and in boys - from 17 to 18 years.

Exstrophy of the bladder in an adult

Since in the overwhelming majority of cases this pathology is corrected in childhood, adults with bladder exstrophy are rare. This occurs in cases where the child for many reasons did not perform the operations in due time, or they were conducted with errors. People with this defect have difficulties in social adaptation in the team because of urinary incontinence. This problem is considered one of the most important. Recently, several techniques have been known to perform surgery to remove it, but with either of them, only 40-80 percent successfully heals bladder exstrophy in an adult. The photo below shows the preparatory stage before the operation.

The second important aspect of the problem is the sexual adaptation of adults, especially men born with bladder exstrophy. Despite all the efforts of doctors, it is impossible to achieve a complete restoration of the cavernous bodies of the male genital organ. Firstly, because they are almost always deformed, and secondly, because their volume is simply not enough, even when cutting them off from the pubic bone. Therefore, the maximum length of the penis almost never exceeds 6-7 cm, although the erection is not broken. Patients are operated on urogenital plasty, in addition, sessions of psychotherapy and medication are shown.

Prevention

Since the exact causes of the pathology we are considering are unknown, doctors today can not fully answer the question of why bladder exstrophy occurs. Prevention is the abstinence of the pregnant woman from smoking, drugs, alcohol. Also it is necessary to conduct a mandatory examination for the presence of herpes, rubella, syphilis, toxoplasmosis and other embryotoxic infections. An important role is played by genetic counseling, especially if the family already has patients with esophagia or epispadia of the bladder. This deviation well shows ultrasound, which gives the woman the right to decide whether to leave her a sick child or not.

People born with this pathology, all life should be observed in the urologist. Of great importance for them is the observance of a diet that excludes all salted, spicy, peppery, alcohol and the use of large volumes of liquid.