Edmond T. Gonzales

Management of ureteropelvic junction obstruction in infants.

The frequent use of fetal ultrasound is allowing early (prenatal) diagnosis of numerous uropathies previously delayed until the child either became symptomatic or had a palpable mass. We would anticipate an increasing number of neonates presenting for repair of obstructions, especially ureteropelvic junction obstruction. To evaluate our experience with this disorder in infants we reviewed our experience with ureteropelvic junction obstruction during the last 6 years in 16 infants less than 1 year old. Principles of evaluation, surgical techniques and results are presented. To date, no secondary procedures have been necessary and most neonates have shown dramatic improvement in the parenchymal mass and intrarenal anatomy.

ANDROGEN RECEPTOR GENE ALTERATIONS ARE NOT ASSOCIATED WITH ISOLATED CRYPTORCHIDISM

PURPOSE Multiple theories of testicular descent exist but there is no consensus. Cryptorchidism is a component of the androgen insensitivity syndrome, suggesting that testicular descent may be at least partially under the control of androgenic stimulation. To determine whether isolated cryptorchidism may be caused by androgen insensitivity, we screened a population of boys with isolated cryptorchidism for the presence of androgen receptor gene alterations. MATERIALS AND METHODS Deoxyribonucleic acid (DNA) was isolated from tissue collected from 21 patients with isolated cryptorchidism during orchiopexy. Patient selection was biased to maximize the likelihood of detection of a genetic etiology of cryptorchidism. The DNA was screened for androgen receptor gene alterations in exons 2 to 8 using single strand conformational polymorphism analysis. RESULTS No abnormalities in the androgen receptor gene were detected by single strand conformational polymorphism analysis in any patient. CONCLUSIONS Mutations of the androgen receptor gene in the hormone and DNA binding domains of the protein appear to be an unlikely cause of isolated cryptorchidism.

The Management of Distal Hypospadias With Meatal-based, vascularized Flaps

In 63 children distal hypospadias was repaired using a meatal-based, vascularized flap. An acceptable glandular meatus was achieved in 62 children. Complications requiring further operation occurred in 5 children (8 per cent) and all were repaired successfully with only 1 other procedure. The technique has proved successful and rewarding in managing these distal lesions.

Genetic Etiology of Posterior Urethral Valves

Several congenital urological anomalies have been shown to be present in monozygotic twins and to have familial tendencies. Most of these disorders are associated with maldevelopment of the mesonephric (wolffian) duct and their genetic predisposition suggests an interaction of many genes of small effect. The etiology of type I posterior urethral valves is unknown. Some authors postulate that these valves result from anomalous development of the mesonephric duct, while others believe that they originate from the urogenital sinus. There are only a few reports in the literature on familial posterior urethral valves. We report on 2 more pairs of monozygotic twins and suggest that posterior urethral valves also may have polygenetic factors similar to other anomalies of the mesonephric duct. Based on this observation, we propose that posterior urethral valves likely arise from maldevelopment of the mesonephric duct.

LONG-TERM ADJUSTMENT ISSUES IN PATIENTS WITH EXSTROPHY

PURPOSE We explored the psychological adjustment of children with bladder or cloacal exstrophy. MATERIALS AND METHODS We assessed 29 subjects with a mean age plus or minus standard deviation of 7.8 +/- 3.97 years using age appropriate standard psychological instruments. Psychological adjustment scores in the exstrophy group were compared to the norms of the various instruments. Subjects were divided into dichotomous groups according to several medical and demographic factors. For each factor the differences between the means of the 2 groups on the outcome variables were calculated using a t test. RESULTS Children with exstrophy perceived their appearance more positively than the norm. Older children performed more poorly than younger children in adaptive behavior, specifically in skills related to functioning in school. Children who achieved continence after age 4 years were more likely to have problems with acting out behavior. There were no differences in adjustment in boys versus girls, bladder versus cloacal exstrophy, type of continence strategy or gender reassignment versus no reassignment. CONCLUSIONS Children with exstrophy did not have clinical psychopathology. Differences existed in adaptive and acting out behavior rather than depression or anxiety, suggesting that improved outcomes may be achieved through a focus on normal adaptation rather than on potential psychological distress.

Trauma to the Bladder Neck, Trigone and Vagina in Children

Although rare, injury to the bladder neck can occur in children following blunt lower abdominal trauma. Anterior disruption at the bladder neck (vesicoprostatic junction) may occur in boys, while rupture through the vesicovaginal septum may occur with or without vesicourethral avulsion in girls. Immediate evaluation, including excretory urography, voiding cystography, cystovaginoscopy (with a high index of suspicion of vaginal injury in girls) and retrograde urethrography (in boys), is indicated to delineate the extent of injury. Early surgical intervention is necessary to achieve realignment of the vesicourethral junction, repair a vesicovaginal injury, if present, and help assure the best chance of subsequent continence.

Cutaneous Vesicostomy: A Useful Form of Temporary Diversion in Children

Urinary diversion is not often required in children. Initial enthusiasm for permanent forms of diversion, especially intestinal conduits, has tempered recently with improved reconstructive techniques and the initiation of intermittent catheterization in the management of neurogenic bladder. However, occasionally, temporary diversion still affords the best means of preserving renal function and allowing ultimate reconstruction in a child with uropathology. In our experience vesicostomy has been a successful and simple procedure for temporary diversion in selected children with vesical or urethral disorders. The technique is simple, tubeless, easy to manage and readily reversible. We have reviewed 24 vesicostomies performed in children at our institution during the last 5 years. The results have been overwhelmingly successful and satisfactory. Cutaneous vesicostomy is our preferred form of diversion in selected children who suffer complications of bladder dysfunction until the potential of the bladder can be determined and a definitive plan of management can be established. The specific surgical technique as well as results and complications are discussed.

Open Catheter Drainage after Urethral Surgery

A retrospective analysis of 100 patients, each managed by an intubated urinary diversion after undergoing repair of hypospadias and/or chordee or for a complication of previous urethral surgery, was performed to determine whether there was any difference in the incidence of postoperative urinary infection relative to the technique of catheter drainage (closed or open). In group 1 (50 patients) a traditional closed urinary drainage system was used, while in group 2 (50 patients) an open drainage system into doubled diapers was used. No significant difference in occurrence of urinary tract infections could be identified. Urinary infections occurred equally (24 per cent) in each group regardless of whether antibiotics were used postoperatively. Our results suggest that open urinary drainage using the double diaper technique is a safe and effective method of short-term catheter management after pediatric urethral surgery. This technique is comfortable for the patient, and is easy for parents to understand and master.

Nephrogenic adenoma of the bladder in children.

Nephrogenic adenoma is an uncommon entity, particularly in children. This benign lesion is believed to represent urothelial transformation in response to trauma or inflammation. Current treatment is local resection with fulguration of the base of the lesion, long-term antimicrobial therapy and periodic cystoscopy. Our 2 cases support not only the urothelial transformation theory but raise the possibility that immunosuppression may be a contributing factor in these lesions.

Vesicoamniotic Shunting Improves Outcomes in a Subset of Prune Belly Syndrome Patients at a Single Tertiary Center

Objective: Review outcomes of Prune Belly Syndrome (PBS) with the hypothesis that contemporary management improves mortality. Methods: A retrospective chart review of inpatient and outpatient PBS patients referred between 2000 and 2018 was conducted to assess outcomes at our institution. Data collected included age at diagnosis, concomitant medical conditions, imaging, operative management, length of follow-up, and renal function. Results: Forty-five PBS patients presented during these 18 years. Prenatal diagnoses were made in 17 (39%); 65% of these patients underwent prenatal intervention. The remaining patients were diagnosed in the infant period (20, 44%) or after 1 year of age (8, 18%). Twelve patients died from cardiopulmonary complications in the neonatal period; the neonatal mortality rate was 27%. The mean follow-up among patients surviving the neonatal period was 84 months. Forty-two patients had at least one renal ultrasound (RUS); of the 30 patients with NICU RUSs, 26 (89%) had hydronephrosis and/or ureterectasis. Of the 39 patients who underwent voiding cystourethrogram (VCUG), 28 (62%) demonstrated VUR. Fifty-nine percent had respiratory distress. Nine patients (20%) were oxygen-dependent by completion of follow up. Thirty-eight patients (84%) had other congenital malformations including genitourinary (GU) 67%, gastrointestinal (GI) 52%, and cardiac 48%. Sixteen patients (36%) had chronic kidney disease (CKD) of at least stage 3; three patients (7%) had received renal transplants. Eighty-four percent of patients had at least one surgery (mean 3.4, range 0–6). The most common was orchiopexy (71%). The next most common surgeries were vesicostomy (39%), ureteral reimplants (32%), abdominoplasty (29%), nephrectomy (25%), and appendicovesicostomy (21%). After stratifying patients according to Woodard classification, a trend for 12% improvement in mortality after VAS was noted in the Woodard Classification 1 cohort. Conclusions: PBS patients frequently have multiple congenital anomalies. Pulmonary complications are prevalent in the neonate while CKD (36%) is prevalent during late childhood. The risk of CKD increased significantly with the presence of other congenital anomalies in our cohort. Mortality in childhood is most common in infancy and may be as low as 27%. Contemporary management of PBS, including prenatal interventions, reduced the neonatal mortality rate in a subset of our cohort.