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Upon delivery, the exposed bladder is irrigated and a non-adherent film is placed to prevent as much contact with the external environment as possible. In the event the child was not born at a medical center with an appropriate exstrophy support team then transfer will likely follow. Upon transfer, or for those infants born at a medical center able to care for bladder exstrophy, imaging may take place in the first few hours of life prior to the child undergoing surgery.
Primary (immediate) closure is indicated only in those patients with a bladder of appropriate size, elasticity, and contractility as those patients are most likely to develop a bladder of adequate capacity after early surgical intervention.
Conditions that are absolute contraindications despite bladder adequacy include duplication of the penis or scrotum and significant bilateral hydronephrosis.
In a small retrospective study of 25 pregnancies five factors were found to be strongly associated with a prenatal diagnosis of bladder exstrophy:
- Inability to visualize the bladder on ultrasound
- A lower abdominal bulge
- A small penis with anteriorly displaced scrotum
- A low set umbilical insertion
- Abnormal widening of the iliac crests
While a diagnosis of bladder exstrophy was made retrospectively in a majority of pregnancies, in only three cases was a prenatal diagnosis made.
Cystocele may be mild enough not to result in symptoms that are troubling to a woman. In this case, steps to prevent it from getting worse.These are:
- smoking cessation
- losing weight
- pelvic floor strengthening
- treatment of a chronic cough
- maintaining healthy bowel habits
- eating high fiber foods
- avoiding constipation and straining
A number of scales exist to grade the severity of the condition.
The pelvic organ prolapse quantification (POP-Q) assessment, developed in 1996, quantifies the descent of the cystocele into the vagina. The POP-Q provides reliable description of the support of the anterior, posterior and apical vaginal wall. It uses objective and precise measurements to the reference point, the hymen. Cystocele and prolapse of the vagina from other causes is staged using POP-Q criteria can range from good support (no descent into the vagina) reported as a POP-Q stage 0 or I to a POP-Q score of IV which includes prolapse beyond the hymen. It also used to quantifies the movement of other structures into the vaginal lumen and their descent.
The Baden–Walker Halfway Scoring System is used as the second most used system and assigns the classifications as mild (grade 1) when the bladder droops only a short way into the vagina; (grade 2) cystocele, the bladder sinks far enough to reach the opening of the vagina; and (grade 3) when the bladder bulges out through the opening of the vagina.
The younger the patient and the lower the grade at presentation the higher the chance of spontaneous resolution. Approximately 85% of grade I & II VUR cases will resolve spontaneously. Approximately 50% of grade III cases and a lower percentage of higher grades will also resolve spontaneously.
The following procedures may be used to diagnose VUR:
- Cystography
- Fluoroscopic voiding cystourethrogram (VCUG)
- Abdominal ultrasound
- Technetium-99m Dimercaptosuccunic Acid (DMSA) Scintigraphy
An abdominal ultrasound might suggest the presence of VUR if ureteral dilatation is present; however, in many circumstances of VUR of low to moderate, even high severity, the sonogram may be completely normal, thus providing insufficient utility as a single diagnostic test in the evaluation of children suspected of having VUR, such as those presenting with prenatal hydronephrosis or urinary tract infection (UTI).
VCUG is the method of choice for grading and initial workup, while RNC is preferred for subsequent evaluations as there is less exposure to radiation. A high index of suspicion should be attached to any case where a child presents with a urinary tract infection, and anatomical causes should be excluded. A VCUG and abdominal ultrasound should be performed in these cases
DMSA scintigraphy is used for the evaluation of the paranchymal damage, which is seen as cortical scars. After the first febrile UTI, the diagnostic role of an initial scintigraphy for detecting the damage before the VCUG was investigated and it was suggested that VCUG can be omitted in children who has no cortical scars and urinary tract dilatation.
Early diagnosis in children is crucial as studies have shown that the children with VUR who present with a UTI and associated acute pyelonephritis are more likely to develop permanent renal cortical scarring than those children without VUR, with an odds ratio of 2.8. Thus VUR not only increases the frequency of UTI's, but also the risk of damage to upper urinary structures and end-stage renal disease.
Abdominal ultrasound is of some benefit, but not diagnostic. Features that suggest posterior urethral valves are bilateral hydronephrosis, a thickened bladder wall with thickened smooth muscle trabeculations, and bladder diverticula.
Voiding cystourethrogram (VCUG) is more specific for the diagnosis. Normal "plicae circularis" are variable in appearance and often not seen on normal VCUGs. PUV on voiding cystourethrogram is characterized by an abrupt tapering of urethral caliber near the verumontanum, with the specific level depending on the developmental variant. Vesicoureteral reflux is also seen in over 50% of cases. Very often the posterior urethra maybe dilated thus making the abrupt narrowing more obvious. the bladder wall may show trabeculations or sacculations or even diverticuli.
Diagnosis can also be made by cystoscopy, where a small camera is inserted into the urethra for direct visualization of the posteriorly positioned valve. A limitation of this technique is that posterior valve tissue is translucent and can be pushed against the wall of the urethra by inflowing irrigation fluid, making it difficult to visualize. Cystoscopy may also demonstrate the bladder changes.
Centers in Europe and Japan have also had excellent results with cystosonography, although it has not been approved for use in the United States yet.
Urethral diverticulum is often an incidental finding. It can be diagnosed using magnetic resonance imaging and/or micturating cystourethrography. Other studies that can be used to diagnose urethral diverticulum include intravenous urography, urethroscopy, and/or ultrasound. Conditions that should be distinguished from urethral diverticulum in a differential diagnosis include overactive bladder, Gartner's duct cyst, Gartner's duct abscess, ectopic caeco-ureterocele, interstitial cystitis, pelvic inflammatory disease, endometriosis, and cancer.
There is no standardized evaluation of the symptoms of UAB, in part due to the historic terminologic confusion. A thorough history aimed at detecting underlying disease or prior pelvic surgeries is certainly necessary. As a perception of volume mishandling, a voiding diary (to assess voided volumes and frequency of voiding) and a post-void residual volume would be valuable information. Uninstrumented uroflow, neurologic and pelvic examination may contribute valuable information. Imaging looking for abnormal bladder morphology or vesicoureteral reflux/hydronephrosis may be helpful. If low-pressure urine storage can be assured, and the urinary reservoir is known to be limited to the bladder, the general value of urodynamic study in UAB is unclear. In specific situations, invasive urodynamics may be helpful to distinguish bladder outlet obstruction from DU, although this distinction can be difficult.
No useful studies have been done to determine whether acupuncture can help people with stress urinary incontinence.
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.
Duplicated ureter is the most common renal abnormality, occurring in approximately 1% of the population.
Race: Duplicated ureter is more common in Caucasians than in African-Americans.
Sex: Duplicated ureter is more common in females. However, this may be due to the higher frequency of urinary tract infections in females, leading to a higher rate of diagnosis of duplicated ureter.
In rare cases, a surgeon implants an artificial urinary sphincter, a doughnut-shaped sac that circles the urethra. A fluid fills and expands the sac, which squeezes the urethra closed. By pressing a valve implanted under the skin, the artificial sphincter can be deflated. This removes pressure from the urethra, allowing urine from the bladder to pass.
An omphalocele is often detected through AFP screening or a detailed fetal ultrasound. Genetic counseling and genetic testing such as amniocentesis are usually offered during the pregnancy.
Imaging studies, such as an intravenous urogram (IVU), renal ultrasonography, CT or MRI, are also important investigations in determining the presence and/ or cause of hydronephrosis. Whilst ultrasound allows for visualisation of the ureters and kidneys (and determine the presence of hydronephrosis and / or hydroureter), an IVU is useful for assessing the anatomical location of the obstruction. Antegrade or retrograde pyelography will show similar findings to an IVU but offer a therapeutic option as well. Real-time ultrasounds and Doppler ultrasound tests in association with vascular resistance testing helps determine how a given obstruction is effecting urinary functionality in hydronephrotic patients.
In determining the cause of hydronephrosis, it is important to rule out urinary obstruction. One way to do this is to test the kidney function. This can be done by, for instance, a diuretic intravenous pyelogram, in which the urinary system is observed radiographically after administration of a diuretic, such as 5% mannitol, and an intravenous iodine contrast. The location of obstruction can be determined with a Whittaker (or pressure perfusion) test, wherein the collecting system of the kidney is accessed percutaneously, and the liquid is introduced at high pressure and constant rate of 10ml/min while measuring the pressure within the renal pelvis. A rise in pressure above 22 cm HO suggests that the urinary collection system is obstructed. When arriving at this pressure measurement, bladder pressure is subtracted from the initial reading of internal pressure. (The test was first described by Whittaker in 1973 to test the hypothesis that patients' whose hydronephrosis persists after the posterior urethral valves have been ablated usually have ureters that are not obstructed, even though they may be dilated.)
Kay recommends that a neonate born with untreated in utero hydronephrosis receive a renal ultrasound within two days of birth. A renal pelvis greater than 12mm in a neonate is considered abnormal and suggests significant dilation and possible abnormalities such as obstruction or morphological abnormalities in the urinary tract.
The choice of imaging depends on the clinical presentation (history, symptoms and examination findings). In the case of renal colic (one sided loin pain usually accompanied by a trace of blood in the urine) the initial investigation is usually a spiral or helical CT scan. This has the advantage of showing whether there is any obstruction of flow of urine causing hydronephrosis as well as demonstrating the function of the other kidney. Many stones are not visible on plain X-ray or IVU but 99% of stones are visible on CT and therefore CT is becoming a common choice of initial investigation. CT is not used however, when there is a reason to avoid radiation exposure, e.g. in pregnancy.
For incidentally detected prenatal hydronephrosis, the first study to obtain is a postnatal renal ultrasound, since as noted, many cases of prenatal hydronephrosis resolve spontaneously. This is generally done within the first few days after birth, although there is some risk that obtaining an imaging study this early may miss some cases of mild hydronephrosis due to the relative oliguria of a newborn. Thus, some experts recommend obtaining a follow up ultrasound at 4–6 weeks to reduce the false-negative rate of the initial ultrasound. A voiding cystourethrogram (VCUG) is also typically obtained to exclude the possibility of vesicoureteral reflux or anatomical abnormalities such as posterior urethral valves. Finally, if hydronephrosis is significant and obstruction is suspected, such as a ureteropelvic junction (UPJ) or ureterovesical junction (UVJ) obstruction, a nuclear imaging study such as a MAG-3 scan is warranted.
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.
Various modalities of diagnosis are available:
- Cystoscopy
- Colonoscopy
- Poppy seed test
- Transabdominal ultrasonography
- Abdominopelvic CT
- MRI
- Barium enema
- Bourne test
- Cystogram
A definite algorithm of tests is followed for making the diagnosis.
Patients with incontinence should be referred to a medical practitioner specializing in this field. Urologists specialize in the urinary tract, and some urologists further specialize in the female urinary tract. A urogynecologist is a gynecologist who has special training in urological problems in women. Family physicians and internists see patients for all kinds of complaints, and are well trained to diagnose and treat this common problem. These primary care specialists can refer patients to urology specialists if needed.
A careful history taking is essential especially in the pattern of voiding and urine leakage as it suggests the type of incontinence faced. Other important points include straining and discomfort, use of drugs, recent surgery, and illness.
The physical examination will focus on looking for signs of medical conditions causing incontinence, such as tumors that block the urinary tract, stool impaction, and poor reflexes or sensations, which may be evidence of a nerve-related cause.
A test often performed is the measurement of bladder capacity and residual urine for evidence of poorly functioning bladder muscles.
Other tests include:
- Stress test – the patient relaxes, then coughs vigorously as the doctor watches for loss of urine.
- Urinalysis – urine is tested for evidence of infection, urinary stones, or other contributing causes.
- Blood tests – blood is taken, sent to a laboratory, and examined for substances related to causes of incontinence.
- Ultrasound – sound waves are used to visualize the kidneys, ureters, bladder, and urethra.
- Cystoscopy – a thin tube with a tiny camera is inserted in the urethra and used to see the inside of the urethra and bladder.
- Urodynamics – various techniques measure pressure in the bladder and the flow of urine.
Patients are often asked to keep a diary for a day or more, up to a week, to record the pattern of voiding, noting times and the amounts of urine produced.
Research projects that assess the efficacy of anti-incontinence therapies often quantify the extent of urinary incontinence. The methods include the 1-h pad test, measuring leakage volume; using a voiding diary, counting the number of incontinence episodes (leakage episodes) per day; and assessing of the strength of pelvic floor muscles, measuring the maximum vaginal squeeze pressure.
When an infant is born with an anorectal malformation, it is usually detected quickly as it is a very obvious defect. Doctors will then determine the type of birth defect the child was born with and whether or not there are any associated malformations. It is important to determine the presence of any associated defects during the newborn period in order to treat them early and avoid further sequelae. There are two main categories of anorectal malformations: those that require a protective colostomy and those that do not. The decision to open a colostomy is usually taken within the first 24 hours of birth.
Sonography can be used to determine the type of imperforate anus.
The Society of Fetal Ultrasound has developed a grading system for hydronephrosis, initially intended for use in neonatal and infant hydronephrosis, but it is now used for grading hydronephrosis in adults as well:
- Grade 0 – No renal pelvis dilation. This means an anteroposterior diameter of less than 4 mm in fetuses up to 32 weeks of gestational age and 7 mm afterwards. In adults, cutoff values for renal pelvic dilation have been defined differently by different sources, with anteroposterior diameters ranging between 10 and 20 mm. About 13% of normal healthy adults have a transverse pelvic diameter of over 10 mm.
- Grade 1 (mild) – Mild renal pelvis dilation (anteroposterior diameter less than 10 mm in fetuses) without dilation of the calyces nor parenchymal atrophy
- Grade 2 (mild) – Moderate renal pelvis dilation (between 10 and 15 mm in fetuses), including a few calyces
- Grade 3 (moderate) – Renal pelvis dilation with all calyces uniformly dilated. Normal renal parenchyma
- Grade 4 (severe) – As grade 3 but with thinning of the renal parenchyma
Prenatally diagnosed hydronephrosis (fluid-filled kidneys) suggest post-natal follow-up examination.
The strongest neo-natal presentation is urinary tract infection. A hydronephrotic kidney may present as a palpable abdominal mass in the newborn, and may suggest an ectopic ureter or ureterocele.
In older children, ureteral duplication may present as:
- Urinary tract infection - most commonly due to vesicoureteral reflux (flow of urine from the bladder into the ureter, rather than vice versa).
- Urinary incontinence in females occurs in cases of ectopic ureter entering the vagina, urethra or vestibule.
Diagnosis is made by patient history of passing air or a sputtering urine stream. CT scans may show air in the urinary bladder or bladder walls.
Diagnosis is based on results of bladder catheterization, ultrasonography, CT scan, cystourethroscopy, or pyelography, depending on the level of obstruction.
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).