Children are born with a wide range of congenital anomalies. As many of these children are living longer due to advances in medical care, they are growing into adulthood with their problems managed, but not cured. These children become adults in need of complex medical and urologic care. As these patients age, they often continue to have active and changing urologic issues that require ongoing care for their entire lives. They also develop nonurologic problems and conditions that are much more familiar to adult providers. Additionally, anesthesia providers at adult hospitals are often better equipped to deal with specific comorbid conditions and adult specific physiology. Even when adult urologists are attuned to these patients’ needs and have expertise in their specific reconstructive needs, they often do not have the same multidisciplinary support systems that exist in pediatric hospitals.
To date, there is no single definition of transitional urology or congenitalism. In general, the field strives to effectively and seamlessly transition patients with complex congenital or childhood urologic issues into the adult world. Given the complex problems these patients face, they have often established long-standing relationships with their care providers in the pediatric world. As pediatric urologists tend to be very invested in the care of these patients, they have a strong desire to identify providers who will maintain this same standard of care going forward. The transitional urologist strives to effectively fill this niche.
Transitional care certainly provides challenges for both patients and providers. Patients are often reluctant to transfer care away from providers and institutions that they have bonded with from a young age and who know them well. Adult urologists often feel undertrained to manage the problems facing these complex patients. Additionally, initial appointments can be daunting for both patient and provider alike, as records from multiple previous surgeries, hospitalizations, and treatments can be difficult to obtain and time-consuming to review.
A large commitment is necessary to understand the unique history, anatomy, and social situation of these patients. In a health-care climate that is often driven by financial considerations, current reimbursement schemes do not often incentivize providers to undertake these types of patients or visits. Moreover, staff at adult urology clinics are often unfamiliar with many pediatric urologic conditions. Front desk personnel, nurses, and advance practice providers require education about the specific needs of this patient population to feel comfortable addressing the issues, interacting with their families, and participating in the care.
The development of multidisciplinary treatment groups is not an easy task, and requires commitment from a wide range of providers. Even in pediatric centers this is often difficult to come by, and becomes a nearly unattainable challenge in the busy adult world. Identifying primary care providers and pertinent specialists with an interest and expertise in transitional care becomes vital to successfully moving the care of these complex patients into the adult setting.
While this all may seem daunting, for those providers who focus on transitional care, helping these patients obtain excellent care into adulthood makes these struggles worthwhile.
Research and clinical data in the field has been sparse but steadily increasing. Not surprisingly, most studies to date have been limited by retrospective data collection, small patient populations, and limited long-term follow-up. Little collaboration has been established as yet between pediatric and adult departments or even among institutions. As the field continues to grow, there will undoubtedly be more room to advance the care we provide for these patients with better data collection and research to guide better practice. Moreover, better quantifying of long-term outcomes for these patients will be likely to allow us to improve our care of these patients from the earliest stages.
Many patients suffer from conditions that begin in childhood and remain present well into adulthood, such as varicoceles, stone disease, and urinary tract infections (Table 32-1
). Most of these can be more seamlessly transitioned to adult care as these fit into the scope of practice of many adult urologists. The infertility specialist or the stone specialist would also have the capacity of taking care of even challenging patients with these conditions who are transferring care from a pediatric to adult provider. The key areas for transitional urology are those conditions that require specialized care and expertise not readily available to the adult urologist or that require a far more multidisciplinary approach. Thus we will limit the scope of this chapter to those.
In general, many congenital anomalies that persist into adulthood lead to challenges with fertility, sexuality, quality of life, and independence. As children grow, puberty and adolescence lead to change and growth both physically, psychologically, and physiologically. It is critical to adapt to these changes with the patients, and guide them to the right avenues for ongoing care. Some patients face specific challenges of maintenance of complex reconstructions, such as complications of stomas, strictures of reconstructed urethra and vaginas and ureters, or bladder outlet obstruction. Other patients face ongoing continence concerns of both bowel and bladder. Additionally, standard health-care prevention becomes critical in
patients predisposed to conditions such as cardiovascular disease, stone disease, renal failure, and cancer.
TABLE 32-1 Transition Care: Congenitalism
Recommended management by adult urologist with area specialization:
varicoceles, stone disease, and urinary tract infections
Recommended management by transition care specialist with expertise in adult and pediatric urology:
exstrophy, hypospadias, posterior urethral valves, spina bifida, disorders of sexual development, and childhood urologic cancers
D. Timing of Transition
The optimal time to begin transitioning patients to adult providers has yet to be defined and will likely vary based on a number of factors. That said, initial introductions of patient and their family to the adult provider in a familiar setting at a relatively early age with the longtime provider present may be of benefit in easing the transition. Reassuring patients and families that a plan is in place for their ongoing care seems to be of tremendous value.
Bladder exstrophy (BE) is a rare congenital anomaly that occurs in 1 per 50,000 newborns, and exists on a spectrum from isolated epispadias to cloacal exstrophy, which is even rarer. The care of bladder exstrophy is a challenge even to the trained pediatric urologist who on average may see three patients per year in “high volume” centers. While the initial surgical reconstruction and management of early bladder development is challenging and there is little concrete data to guide each step, there is even less guidance of management as these children grow into adulthood. Patients with bladder exstrophy have a lifetime of concerns with continence, urinary tract infections, fertility, sexual function, and cosmesis, and these are challenges for almost every patient and any urologist, adult and pediatric alike.
Long-term continence rates in patients with exstrophy are variable, and the data available may not be completely applicable to guide our current generation of exstrophy patients since closure patterns have changed. Most patients with augmentation and catheterizable channels or complete urinary diversion will be dry, but even some of these patients will leak via the stoma or have stress incontinence. A small minority are dry with their initial reconstruction alone. It is important to remember however that patients who have achieved continence with reconstruction alone or with bladder neck reconstruction may seemingly void well for a while, but are still at risk for incomplete emptying and its sequellae, as well as long-term bladder decompensation as they are ultimately voiding against a fixed outlet resistance. This low level of obstruction may be well tolerated initially, but can lead to decompensation of the upper tracts so these patients have to be monitored throughout life.
B. Urinary Tract Infections (UTIs)
Patients with bladder exstrophy who undergo reconstruction with augmentation or urinary diversion are especially at risk for urinary tract infections (UTIs). Even those who were reconstructed primarily may be at risk for infections due to incomplete emptying. In addition men with a history of bladder exstrophy may void at higher pressures, Valsalva void, or have an element of obstruction which predisposes them to epididymitis. Thus these patients have to be carefully assessed when they present with recurrent UTIs or epididymitis to ensure that their upper tracts are preserved and to rule out significant obstruction.
The external appearance of men with bladder exstrophy is notable not just for the penile shape, but also for the hair distribution. Pubic hair grows on either side of the midline, but not in the area of the diastasis itself. This can
at times be bothersome to patients, and can be corrected by rotating hair-bearing flaps of skin medially to cover the defect.
One of the greatest concerns for men with bladder exstrophy is penile length and dorsal chordee. While the dorsal chordee can be corrected if there is a specific functional problem, there is little that can be done about penile length. There are reports of radial free-flap phalloplasty with inflatable penile prosthesis, but this is not a widely performed procedure and is fraught with complications.
The perineum of women with bladder exstrophy is displaced anteriorly, and the vagina is positioned almost parallel to the floor while standing. The vagina also tends to be shorter than normal. The labia are small and are not fused to form a fourchette. The clitoris is bifid, which persists even after reconstruction. While some of this reconstruction can be done in infancy during the initial repair, any clitoral surgery is done with caution and even reconstruction in adulthood can lead to decreased sensation.
The testes in boys with bladder exstrophy are anatomically normal; however there is an increased association with undescended testes, which according to some reports occur in up to 23% of boys. There is not good data on the semen quality in men with a history of bladder exstrophy. It has been thought that about one-third to one-half of men with BE can achieve paternity, but this may require assisted reproductive techniques. Infertility can be due to leukospermia or scarring of the seminiferous tubules due to inflammation, or impairment of transit of sperm due to injury of the vas or ejaculatory ducts, or impaired ability to transmit sperm to the partner’s cervix.
In women with BE, the ovaries and uterus are normal and uninvolved. However the cervix is positioned low and close to the introitus and there is deficiency in the pelvic floor with the pelvic floor musculature located posteriorly, thus providing less support to the vagina and bladder. This lack of support predisposes women to prolapse. In a Spanish cohort, 31% of women with repaired exstrophy had genital prolapse, and in some series, up to 50% of women with exstrophy developed prolapse. Genital prolapse was more common after pregnancy, but did occur in nulliparous women as well.
Women with BE can carry successful pregnancies. They should be counseled on the increased risk of UTIs during pregnancy and the likely need for Cesarean section for delivery. In patients with a catheterizable stoma, the pregnancy can lead to alterations in the anatomy of the channel, leading to difficulty with draining. In 2015, the Seattle group published its longitudinal review of a total of 12 women with history of bladder exstrophy complex who attempted pregnancy. Of these 12 women, there were totally 22 pregnancies (20 in bladder exstrophy and 2 in cloacal exstrophy), with a total of 14 live births, 4 spontaneous abortions, and 4 terminations. The majority of these patients had bladder augmentations and some had catheterizable channels or performed clean intermittent catheterization (CIC) per urethra. The live births were all delivered by Caesarian section via a vertical paramedian incision rather than the standard Pfannenstiel incision.
E. Sexual Function
While the anatomy of bladder exstrophy should not affect tumescence, men with bladder exstrophy do have a higher rate of erectile dysfunction (ED) based on the International Index of Erectile Function score, with 58% having a score of 15 or less compared to 23% in controls. The areas of
dysfunction were in the ability to maintain an erection and penetration, but not frequency and rigidity of erections.
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