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Modern therapy is aimed at surgical reconstruction of the bladder and genitalia. Both males and females are born with this anomaly. Treatment is similar.
In males treatments have been:
In the modern staged repair of exstrophy (MSRE) the initial step is closure of the abdominal wall, often requiring a pelvic osteotomy. This leaves the patient with penile epispadias and urinary incontinence. At approximately 2–3 years of age the patient then undergoes repair of the epispadias after testosterone stimulation. Finally, bladder neck repair usually occurs around the age of 4–5 years, though this is dependent upon a bladder with adequate capacity and, most importantly, an indication that the child is interested in becoming continent.
In the complete primary repair of exstrophy (CPRE) the bladder closure is combined with an epispadias repair, in an effort to decrease costs and morbidity. This technique has, however, led to significant loss of penile and corporal tissue, particularly in younger patients.
In females treatment has included:
Surgical reconstruction of the clitoris which is separated into two distinct bodies. Surgical reconstruction to correct the split of the mons, redefine the structure of the bladder neck and urethra. Vaginoplasty will correct the anteriorly displaced vagina. If the anus is involved, it is also repaired. Fertility remains and women who were born with bladder extrophy usually develop prolapse due to the weaker muscles of the pelvic floor.
The most important criterion for improving long-term prognosis is success of the initial closure. If a patient requires more than one closure their chance of continence drops off precipitously with each additional closure - at just two closures the chance of voiding continence is just 17%.
Even with successful surgery, people may have long-term complications. Some of the most common include:
- Vesicoureteral reflux
- Bladder spasm
- Bladder calculus
- Urinary tract infections
Treatment options range from no treatment for a mild cystocele to surgery for a more extensive cystocele. If a cystocele is not bothersome, the clinician may only recommend avoiding heavy lifting or straining that could cause the cystocele to worsen. If symptoms are moderately bothersome, the doctor may recommend a pessary, a device placed in the vagina to hold the bladder in place. Treatment can consist of a combination of non-surgical and surgical management. Treatment choice is also related to age, desire to have children, severity of impairment, desire to continue sexual intercourse and other diseases that a woman may have.
Endoscopic injection involves applying a gel around the ureteral opening to create a valve function and stop urine from flowing back up the ureter. The gel consists of two types of sugar-based molecules called dextranomer and hyaluronic acid. Trade names for this combination include Deflux and Zuidex. Both constituents are well-known from previous uses in medicine. They are also biocompatible, which means that they do not cause significant reactions within the body. In fact, hyaluronic acid is produced and found naturally within the body.
Cystocele is often treated by non-surgical means:
- Pessary - This is a removable device inserted into the vagina to support the anterior vaginal wall. Pessaries come in many different shapes and sizes. There are sometimes complications with the use of a pessary.
- Pelvic floor muscle therapy - Pelvic floor exercises to strengthen vaginal support can be of benefit. Specialized physical therapy can be prescribed to help strengthen the pelvic floor muscles.
- Dietary changes - Ingesting high fiber foods will aid in promoting bowel movements.
Medical treatment entails low dose antibiotic prophylaxis until resolution of VUR occurs. Antibiotics are administered nightly at half the normal therapeutic dose. The specific antibiotics used differ with the age of the patient and include:
- Amoxicillin or ampicillin – infants younger than 6 weeks
- Trimethoprim-sulfamethoxazole (co-trimoxazole) – 6 weeks to 2 months
After 2 months the following antibiotics are suitable:
- Nitrofurantoin {5–7 mg/kg/24hrs}
- Nalidixic acid
- Bactrim
- Trimethoprim
- Cephalosporins
Urine cultures are performed 3 monthly to exclude breakthrough infection. Annual radiological investigations are likewise indicated. Good perineal hygiene, and timed and double voiding are also important aspects of medical treatment. Bladder dysfunction is treated with the administration of anticholinergics.
If suspected antenatally, a consultation with a paediatric surgeon/ paediatric urologist maybe indicated to evaluate the risk and consider treatment options.
Treatment is by endoscopic valve ablation. Fetal surgery is a high risk procedure reserved for cases with severe oligohydramnios, to try to limit the associated lung underdevelopment, or pulmonary hypoplasia, that is seen at birth in these patients. The risks of fetal surgery are significant and include limb entrapment, abdominal injury, and fetal or maternal death. Specific procedures for "in utero" intervention include infusions of amniotic fluid, serial bladder aspiration, and creating a connection between the amniotic sac and the fetal bladder, or vesicoamniotic shunt.
There are three specific endoscopic treatments of posterior urethral valves:
- Vesicostomy followed by valve ablation - a stoma, or hole, is made in the urinary bladder, also known as "low diversion", after which the valve is ablated and the stoma is closed.
- Pyelostomy followed by valve ablation - stoma is made in the pelvis of the kidney as a slightly "high diversion", after which the valve is ablated and the stoma is closed
- Primary (transurethral) valve ablation - the valve is removed through the urethra without creation of a stoma
The standard treatment is primary (transurethral) ablation of the valves. Urinary diversion is used in selected cases, and its benefit is disputed.
Following surgery, the follow-up in patients with posterior urethral valve syndrome is long term, and often requires a multidisciplinary effort between paediatric surgeons/ paediatric urologists, pulmonologists, neonatologists, radiologists and the family of the patient. Care must be taken to promote proper bladder compliance and renal function, as well as to monitor and treat the significant lung underdevelopment that can accompany the disorder. Definitive treatment may also be indicated for the vesico-ureteral reflux.
The primary treatment for urethral diverticulum is surgical. The surgery is conducted transvaginally, usually when there is no acute inflammation to better aid dissection of the delicate tissues.
A variety of materials have been historically used to add bulk to the urethra and thereby increase outlet resistance. This is most effective in patients with a relatively fixed urethra. Blood and fat have been used with limited success. The most widely used substance, gluteraldehyde crosslinked collagen (GAX collagen) proved to be of value in many patients. The main downfall was the need to repeat the procedure over time.
A number of medications exist to treat incontinence including: fesoterodine, tolterodine and oxybutynin. While a number appear to have a small benefit, the risk of side effects are a concern. For every ten or so people treated only one will become able to control their urine and all medication are of similar benefit.
Medications are not recommended for those with stress incontinence and are only recommended in those who have urge incontinence who do not improve with bladder training.
Surgery may be used to help stress or overflow incontinence. Common surgical techniques for stress incontinence include slings, tension-free vaginal tape, and bladder suspension among others. Urodynamic testing seems to confirm that surgical restoration of vault prolapse can cure motor urge incontinence. In those with problems following prostate surgery there is little evidence regarding the use of surgery.
Therapy for UAB is often dependent on factors such as age, health, symptoms, and cause of the condition. Treatment frequently includes lifestyle modification (fluid restriction, bladder retraining). Bethanechol is a prescription medication used for treatment, bethanechol can stimulate the nerves of the bladder, making them more responsive to stimulus. With UAB, it is common for patients to utilize a urinary catheter to void. Surgical options are also options, with a cuff or stent placed around or in the neck of the bladder to aid the emptying and leakage of urine. Neuromodulatory techniques such as sacral nerve or posterior tibial nerve stimulation may be of value in selected cases. However, current therapies are considered inadequate and there is a strong need for new research and attention.(Van Koeveringe et al., 2011; Tyagi et al. 2015).
The main treatment for isolated epispadias is a comprehensive surgical repair of the genito-urinary area usually during the first 7 years of life, including reconstruction of the urethra, closure of the penile shaft and mobilisation of the corpora. The most popular and successful technique is known as the modified Cantwell-Ransley approach. In recent decades however increasing success has been achieved with the complete penile disassembly technique despite its association with greater and more serious risk of damage.
A pessary is a medical device that is inserted into the vagina. The most common kind is ring shaped, and is typically recommended to correct vaginal prolapse. The pessary compresses the urethra against the symphysis pubis and elevates the bladder neck. For some women this may reduce stress leakage, however it is not clear how well these mechanical devices help women with stress urinary incontinence. If a pessary is used, vaginal and urinary tract infections may occur and regular monitoring by a doctor is recommended.
Left untreated, urethral diverticulum can cause significant morbidity (sickness).
During surgery, there is a risk for complications due to the highly vascular nature of the tissue. The urethral sphincters and its smooth muscle, as well as the neck of the bladder, can be injured regardless of the surgical approach. Other complications from surgery can include urinary incontinence, stress incontinence, a urethrovaginal fistula, or recurrent diverticula. Horseshoe-shaped diverticula and diverticula that completely surround the urethra are both associated with worse outcomes, as are those located close to the bladder, and large (over 3–4 cm) diverticula.
Imperforate anus usually requires immediate surgery to open a passage for feces unless a fistula can be relied on until corrective surgery takes place. Depending on the severity of the imperforate, it is treated either with a perineal anoplasty or with a colostomy.
While many surgical techniques to definitively repair anorectal malformations have been described. The posterior sagittal approach (PSARP) has become the most popular. It involves dissection of the perineum without entry into the abdomen and 90% of defects in boys can be repaired this way.
Increasing fluid intake can facilitate the passage of small bladder stones. However, larger stones may require other methods of treatment. Fragmentation of bladder stones can be achieved by use of a cystoscope which is inserted into the bladder. The urologist visualizes the stone and uses ultrasonic energy or laser lithotripsy to cause fragmentation of the stones into small pieces, which are then flushed out of the bladder. This procedure requires anesthesia and may require admission to a hospital. Complications of this treatment include infection and damage to the bladder. Some stones are too large even for cystoscopic treatment and may require open cystotomy, in which an incision is made in the bladder and the stones are removed manually.
With a high lesion, many children have problems controlling bowel function and most also become constipated. With a low lesion, children generally have good bowel control, but they may still become constipated.
For children who have a poor outcome for continence and constipation from the initial surgery, further surgery to better establish the angle between the anus and the rectum may improve continence and, for those with a large rectum, surgery to remove that dilated segment may significantly improve the bowel control for the patient. An antegrade enema mechanism can be established by joining the appendix to the skin (Malone stoma); however, establishing more normal anatomy is the priority.
The best way to prevent bladder stones is to drink plenty of liquids. Juices containing citrates are thought to reduce the risk of stone formation. A study published in the "Clinical Journal of the American Society of Nephrology" indicate orange juice is more effective at preventing stone formation than other citrus juices. Men who have difficulty with urination due to prostatic hypertrophy should seek treatment. In those with benign prostatic hyperplasia urinating in a sitting position appears to improve bladder emptying which might decrease bladder stones in this group.
A number of antimuscarinic drugs (e.g., darifenacin, hyoscyamine, oxybutynin, tolterodine, solifenacin, trospium, fesoterodine) are frequently used to treat overactive bladder. β3 adrenergic receptor agonists (e.g., mirabegron), may be used, as well. They are, however, a second line treatment due to the risk of side effects.
Few people get complete relief with medications and all medications are no more than moderately effective.
A typical person with overactive bladder may urinate 12 times per day. Medication may reduce this number by 2-3 and reduce urinary incontinence events by 1-2 per day.
Various devices (Urgent PC Neuromodulation System) may also be used. Botulinum toxin A (Botox) is approved by the Food and Drug Administration in adults with neurological conditions, including multiple sclerosis and spinal cord injury. Botulinum Toxin A injections into the bladder wall can suppress involuntary bladder contractions by blocking nerve signals and may be effective for up to 9 months. The growing knowledge of pathophysiology of overactive bladder fuelled a huge amount of basic and clinical research in this field of pharmacotherapy. A surgical intervention involves the enlargement of the bladder using bowel tissues, although generally used as a last resort. This procedure can greatly enlarge urine volume in the bladder.
OAB may be treated with electrical stimulation, which aims to reduce the contractions of the muscle that tenses around the bladder and causes urine to pass out of it. There are invasive and non-invasive electrical stimulation options. Non-invasive options include the introduction of a probe into the vagina or anus, or the insertion of an electrical probe into a nerve near the ankle with a fine needle. These non-invasive options appear to reduce symptoms while they are in use, and are better than no treatment, or treatment with drugs, or pelvic floor muscle treatment, but the quality of evidence is low. It is unknown which electrical stimulation option works best. Also, it is unknown whether the benefits last after treatment stops.
Catheterization methods range from intermittent catheterization, which involves no surgery or permanently attached appliances, to the creation of a stoma, which bypasses the urethra to empty the bladder directly.
Intermittent catheterization is the use, several times a day, of straight catheters (which are usually disposable or single-use products) to empty the bladder. This can be done independently by the patient, or with help, in the case that the patient lacks the dexterity to manage the catheter. For patients who are unable to tolerate disposable straight catheters, a Foley catheter allows continuous drainage of urine into a sterile drainage bag that is worn by the patient.
Other treatments involve creation of a stoma that is continent and readily accepts a catheter. These are known as Mitrofanoff mechanisms. An example of this treatment is the creation of an Indiana pouch. Additionally, a muscarinic agonist like Bethanechol may also be used, particularly in the postpartum or postoperative period. Function of the stoma may be augmented by periodic injections of botulinum toxin to relax one of the two sphincters involved in normal urination. The effect is longer-lasting with botulinum toxin type A than with type B. This use of botulinum toxin is discussed at length in the French medical literature.
Bethanechol (Management of overflow incontinence by activating muscarinic receptors in the bladder and stimulating contraction to void the urine, NOT a treatment modality; must rule out urinary obstruction prior to use.)
If an incontinence is due to overflow incontinence, in which the bladder never empties completely, or if the bladder cannot empty because of poor muscle tone, past surgery, or spinal cord injury, a catheter may be used to empty the bladder. A catheter is a tube that can be inserted through the urethra into the bladder to drain urine. Catheters may be used once in a while or on a constant basis, in which case the tube connects to a bag that is attached to the leg. If a long-term (or indwelling) catheter is used, urinary tract infections may occur.
Treatment, depending on cause, may require prompt drainage of the bladder via catheterization, medical instrumentation, surgery (e.g., endoscopy, lithotripsy), hormonal therapy, or a combination of these modalities.
Treatment of the obstruction at the level of the ureter:
The type of treatment, like that of most disorders, depends on the severity of the symptoms. One option is to perform a "vesicostomy", which allows the bladder to drain through a small hole in the abdomen, thus helping to prevent urinary tract infections. Similarly, consistent self catheterization, often several times per day, can be an effective approach to preventing infections. A more drastic procedure is a surgical "remodeling" of the abdominal wall and urinary tract. Boys often need to undergo an orchiopexy, to move the testes to their proper place in the scrotum.