Bladder exstrophy in newborns usually requires emergency medical treatment. Despite successful therapeutic steps, symptoms may be lifelong.
What is bladder exstrophy?
Bladder exstrophy is an already congenital malformation that is comparatively rare. Bladder exstrophy occurs in approximately one in 10,000 to 50,000 newborns. As a rule, boys are more frequently affected by the malformation than girls. The main visible symptoms of bladder exstrophy include a urinary bladder that is open towards the outside of the body. In those affected by bladder exstrophy, the mucous membrane of the urinary bladder merges with the skin of the anterior abdominal wall. In both girls and boys, bladder exstrophy is also usually accompanied by clefting of the urethra. In addition to the urethra and urinary bladder, external genitalia (sex organs) and pelvis are also affected by the developmental disorder in most cases. In urology (a medical specialty that deals with the urinary tract, among other things), bladder exstrophy is considered a severe defect.
Causes
Symptoms of bladder exstrophy are usually caused by impaired development of the lower abdominal wall of an affected fetus. As part of this maldevelopment, for example, unions of abdominal muscles or the bones of the pelvis are impaired. As a result, a rupture (a perforation) occurs in the abdominal wall, through which the urinary bladder leaks to the outside. Frequent consistent dribbling of urine from the bladder affected by bladder exstrophy is usually caused by a lack of attachment of the bladder neck (the junction between the bladder and the urethra) and the sphincter of the bladder. This lack of attachment is also a consequence of the embryonic developmental disorder. The causes of bladder exstrophy per se are still largely unknown – but both environmental and genetic factors probably play a role.
Symptoms, complaints, and signs
Bladder exstrophy is primarily noticeable by the urinary bladder being visible from the outside. In most cases, part of the split urethra is also exposed. This results in leakage of urine and occasionally infection. A malformation of the urinary bladder can be diagnosed quickly on the basis of the clear external signs and the symptoms mentioned and can usually be treated directly. If this is done at an early stage, no further symptoms occur. If not treated, bladder exstrophy can cause a number of other symptoms. These include urinary incontinence, infections of the bladder and genital organs, and chronic pain in the area of the malformation. In some patients, urine backs up, which can cause kidney damage. Such retraction is initially manifested by increasing pressure pain and urinary retention. As it progresses, cramps and fever may occur. Bladder exstrophy can also impair sexual functions. This is manifested, for example, by potency disorders and even erectile dysfunction. In the course of untreated bladder exstrophy, there is a risk of developing psychological complaints. Problems such as depression or social anxiety often occur in childhood and represent a considerable burden for both the affected person and their relatives.
Diagnosis and course
The suspected diagnosis of bladder exstrophy may occasionally occur as early as prenatal (pre-natal) examinations with the aid of ultrasound. Such a suspicion is based, for example, on the repeated finding of a deficiently filled bladder in the fetus. In the absence of prenatal diagnosis, bladder exstrophy is usually detected at birth on the basis of characteristic symptoms. The individual course of bladder exstrophy is influenced, among other things, by the success of therapeutic measures that take place. If professional treatment of the developmental disorder is neglected, affected individuals may subsequently suffer from complications such as urinary incontinence (a lack of control over the retention of urine), reflux of urine into the kidney, frequent inflammation of the urinary and genital apparatus, or sexual dysfunction. However, corresponding sequelae are occasionally possible even in successfully treated patients.
Complications
Bladder exstrophy in neonates represents a urologic emergency.The more time that elapses before the first surgical reconstruction, the greater the risk of later complications. Due to the defect in the anterior abdominal wall, bladder exstrophy can lead to infection with pathogenic microorganisms. In the worst case, there is a risk of sepsis (blood poisoning) immediately after birth. Prophylaxis with antibiotics is therefore mandatory from the first day of life. Surgical restoration of urinary continence is the main focus of further treatment of bladder exstrophy. If incontinence is not adequately remedied, chronic skin irritations may result. These often result in superinfections with Candida albicans and other fungi. Even if the operation is successful, the long-term consequences can include sexual dysfunction, recurrent inflammation in the urogenital region, and urine backing up into the kidneys. Regular check-ups ensure an early diagnosis of metabolic diseases and serve to detect the development of carcinomas. Due to the anatomical relationships of the vagina and uterus, women born with bladder exstrophy are more likely to become pregnant. Due to the loosening (diastasis) of the pubic symphysis and the altered pelvic floor muscles, there is a risk of uterine prolapse. To avoid jeopardizing the results of previous surgeries, doctors recommend delivery by cesarean section (elective sectio) in all cases.
When should you see a doctor?
Usually, bladder exstrophy is diagnosed during an ultrasound examination during pregnancy or immediately after birth. The malformation must be treated immediately, otherwise the child may die. After surgery, further surgical procedures and doctor’s visits are usually required. Parents should consult regularly with their family doctor or pediatric urologist to respond quickly to any complications. Further medical examinations are necessary if the incontinence causes infections and other complaints. The affected child should also be taken to a doctor in case of psychological complaints. Often the quality of life can be improved by further surgical measures and cosmetic interventions. Accompanying this, the doctor will refer the affected person to a therapist or a self-help group. The detailed measures to be taken depend on the severity of the bladder exstrophy and the physical and psychological effects. Early counseling sessions, ideally while the patient is still pregnant, can optimize treatment and prevent complications as far as possible.
Treatment and therapy
Promising medical treatments for bladder exstrophy usually take place by surgical means. In this regard, bladder exstrophy is considered an emergency in urology. According to international guidelines, closure of the urinary bladder with accompanying stabilization of the abdominal wall in the affected child must first be performed surgically within 24 to 72 hours after birth. As a rule, further operations are then performed during the subsequent years of life of a child suffering from bladder exstrophy; the goals of such interventions include, for example, regaining voluntary control over urinary bladder function (urinary continence) and maintaining healthy kidney functions. Since the reproductive organs are usually also affected by bladder exstrophy, other possible interventions are also aimed at restoring the corresponding organs; these restorative measures can take place on both a functional and cosmetic level. In most cases, those affected by bladder exstrophy will eventually require lifelong, regular check-ups. The main purpose of these examinations is to detect possible secondary diseases of bladder exstrophy at an early stage. These secondary diseases include, for example, metabolic disorders or the formation of carcinomas (malignant tissue neoplasms) on the mucous membranes of the lower abdomen.
Outlook and prognosis
The outlook for recovery from bladder exstrophy depends on the severity of the disease, the start of treatment, and the patient’s general health. If no other disorders or diseases are present, the newborn usually undergoes surgical intervention within the first two days of life. In this procedure, the malformation of the bladder is corrected as far as possible.Only in a few patients is a single corrective surgery sufficient to cure or alleviate the symptoms. In most cases, further operations follow in the course of the growth and development process. In these, an attempt is made to create the physical conditions for voluntary bladder control. Since the genital organs are often also damaged in bladder exstrophy, these are also subjected to corrective treatment during the first years of life into adulthood. Each operation is accompanied by the usual risks and side effects. As a result, the patient is subjected to multiple severe stresses over the first 20 years of his life, from which he must recover. The more stable the health and the stronger the immune system are, the better and faster the individual operations can heal. If the patient does not undergo the corrections, he will suffer from urination problems as well as sexual dysfunction for the rest of his life. If the interventions take place with optimal results, freedom from symptoms can be achieved to the greatest extent possible.
Prevention
Since medical science has little knowledge about the causes of the development of bladder exstrophy, the disease can hardly be prevented. However, the expression of symptoms, complications, and possible sequelae associated with bladder exstrophy can be positively influenced by early and consistent treatment steps. Logically, women should completely refrain from smoking, alcohol and drugs during pregnancy to avoid malformations of the child.
Aftercare
After bladder exstrophy is surgically corrected, several aftercare measures apply. First, the patient must spend a few hours in the recovery room so that complications can be detected and treated in a timely manner. The physician will regularly check blood pressure and pulse and also ensure that the sutures are healing optimally. If no abnormalities occur during this phase, the patient can be discharged. Initially, however, the affected person will contain medical recommendations for taking painkillers and sedatives. Bladder exstrophy can lead to complications for some time after the operation, which must be clarified by a doctor. A visit to the doctor is recommended, for example, in case of inflammation, itching or bleeding in the area of the surgical scar. In addition, follow-up appointments agreed upon with the operating physician must be kept. General measures such as drinking enough (especially mineral water and tea), avoiding alcohol and nicotine, and avoiding strong sunlight in the area of the scars are essential. With a fresh suture, showering should also be avoided for seven to nine days. If no complications occur, no further follow-up care is needed. However, patients with bladder exstrophy often suffer from other conditions, so regular visits to a urologist are recommended.
What you can do yourself
The malformations of the urinary bladder that exist from birth in bladder exstrophy can only be treated by medical intervention, so no direct self-help measures are applicable. However, patients and their legal guardians support the medical treatment by a behavior adapted to the mostly surgical interventions. Usually, the newborn patient undergoes surgery within the first days of life to correct the deformity. Constant medical monitoring of the newborn is essential in this process, with parents generally following the instructions of the specialists and clinic staff. Until the patients with bladder exstrophy reach adulthood, in many cases further surgical interventions are necessary. The goal of these surgeries is to provide urinary continence and, if necessary, reconstruct the reproductive organs. With regard to continence, patients support the success of therapy with physiotherapy, which strengthens appropriate muscle parts in the lower abdominal area. Such exercises can be performed at home. As long as urinary continence is not given, patients are often dependent on diapers. Suitable models are discreet, so that they are hardly noticeable externally and do not disturb those affected in their normal daily lives as much as possible. Thus, despite bladder exstrophy, patients are able to participate in social life and minimize restrictions caused by incontinence.
