Journal of Pediatric Urology最新文献

Background: Hypospadias is a common congenital malformation. There are several classification systems for hypospadias. However, the phenotypic subtypes of hypospadias are inconsistently reported across databases due to the inherently subtle variability of the penile anatomy. Consistent classification of hypospadias would enable more accurate data regarding etiological correlates of specific subtypes as well as perioperative care and surgical outcomes. Existing classifications are designed for use by hypospadias surgeons, although there is a need for a system for epidemiologic data abstractors, who are generally not clinicians. The online Center for Disease Control (CDC) manual for birth defect surveillance includes a hypospadias atlas with photograph representation for different hypospadias phenotypic subtypes. However, this atlas is not widely known or used as a reference by pediatric urologists. We sought to evaluate the consistency amongst surgeons who specialize in managing this condition on the classification of hypospadias using the CDC atlas to determine whether this can be a tool in epidemiologic data collection.

Method: We developed a questionnaire using photographs taken directly from the CDC atlas for hypospadias. Demographic data regarding geographical location and years in practice also were obtained. The survey was distributed via email to members of the Society for Pediatric Urology and American Association of Pediatric Urologists. Responses were anonymously collected.

Result: 166 responses were received from 407 surveys request yielding a response rate of 40.8 %. Agreement with the CDC atlas on the classification of hypospadias by responders was 93.4 % for glanular hypospadias, 56.6 % for subcoronal hypospadias, 3.6 % for penile hypospadias, 54.2 for scrotal hypospadias, and 59 % for perineal hypospadias.

Conclusion: Our survey indicated that there is general disagreement in classification of hypospadias in the CDC atlas amongst members of pediatric urology societies. There exists a need for better standardization of a hypospadias classification system for epidemiologic research in hypospadias. Limitations of our study include a less than 50 % of survey responses received and large proportion of responders were from the United States.

Introduction: While most children with classic bladder exstrophy (CBE) are born with normal kidneys, some experience renal deterioration in adulthood. Little is known about the incidence of end-stage and chronic kidney disease (ESKD and CKD, respectively) in this population. Our group has recently published on surgical outcomes in a multi-institutional cohort of 216 people with CBE. Our aim was to describe the incidence of ESKD and prevalence of CKD in this cohort of people with CBE.

Methods: We retrospectively reviewed records of patients with CBE followed at five tertiary care centers described previously. The primary outcome was incidence of ESKD, defined as permanent peritoneal/hemodialysis or renal transplantation. The secondary outcome was prevalence of CKD stage 3 or higher (CKD3+, estimated glomerular filtration rate [eGFR]<60 ml/min/1.73 m²) at the last appointment. Creatinine-based eGFRs were calculated using the CKD-EPI Creatinine Equation (adults) and the Schwartz formula (children). Survival analysis and Fisher's exact test were used.

Results: A total of 201 patients (93 % of the original cohort) had renal function data available (63 % male). Four patients who had a primary urinary diversion remained diverted at a median follow-up of 20.1 years. None developed ESKD and one developed CKD3+. The remaining 197 patients had a primary bladder closure. At a median follow-up of 18.8 years old, 12 were diverted, 108 were augmented and 77 were neither. Three patients developed ESKD (1.5 %) at a median age of 23.4 years (1 hemodialysis, 2 transplantation). On survival analysis, the risk of ESKD was 0 % at 10 years, 1 % at 20 years and 5 % at 30 years (Figure 1). This was higher than the risk of 0.003 % at 21 years of age in the general population (p < 0.001). The median age of 141 individuals with eGFR data was 21.6 years old (65 % male). No children, 4 % of adolescents and 8 % of adults had CKD3+ (p = 0.45). On exploratory analyses, prevalence of CKD3+ did not differ by center or birth year (p ≥ 0.99).

Conclusions: The risk of ESKD and CKD among patients with CBE is not insignificant and appears to be more common than the general population. The potential role of modifiable contributing factors, such as increased bladder outlet resistance, warrants further investigation. Reliable long-term follow up is needed in this population to monitor for ESKD and CKD.

Background: Hydronephrosis could affect blood pressure (BP) according to published case reports and animal experiments. The impact on pediatric BP is often overlooked due to children's inherently lower BP, superior vascular elasticity and greater resistance to hypertension than adults.

Objective: This study aimed to prospectively observe the effects of hydronephrosis, secondary to ureteropelvic junction obstruction (UPJO), on pediatric BP.

Methods: Children with hydronephrosis secondary to UPJO who required pyeloplasty were categorized into five age groups: neonates, infants, toddlers, preschoolers, and school-aged children. Preoperative and postoperative systolic blood pressure (SBP), diastolic blood pressure (DBP), active renin concentration (ARC), and aldosterone concentration (AC) were compared among these age groups, followed by comparison with a control group of children without nephritis or cardiovascular conditions. The impact of severe hydronephrosis secondary to UPJO on pediatric BP and its association with the renin-angiotensin-aldosterone system (RAAS) were examined.

Results: This study enrolled 114 children with severe hydronephrosis secondary to UPJO and 153 without nephritic or cardiovascular conditions between September 2021 and June 2023. As the control group aged, SBP and DBP increased, whereas ARC and AC decreased. Overall, hydronephrosis group had higher SBP, DBP, ARC, and AC than the controls group. These differences differed between the age groups. After pyeloplasty, the postoperative BP of hydronephrosis group approximated that of the control group. Postoperative ARC levels were higher than those in the control group but were much lower than the preoperative levels. AC did not decrease significantly after surgery. The change in DBP in children with hydronephrosis before and after pyeloplasty showed a positive correlation with the change in AC.

Conclusions: Pediatric patients with severe hydronephrosis, a condition secondary to UPJO, displayed elevated BP, ARC, and AC. Following pyeloplasty, these patients noted a reduction in BP. The correlation between elevated blood pressure and the RAAS necessitates further comprehensive investigation.

Introduction: Complete disclosure of childhood genital surgery to patients with congenital adrenal hyperplasia (CAH) is a critical part of CAH care. There are no guidelines or uniform recommendations on the timing and content of surgical disclosure discussions.

Objective: Our objective was to describe the experiences and preferences of females with CAH and parents of females with CAH who underwent childhood genital surgery regarding surgical disclosure.

Methods: We conducted an anonymous cross-sectional online survey of females with CAH (46XX, ≥16 years [y] old) and parents of females with CAH who underwent genital surgery before age 4y in North America. Participants reported experiences, preferences, and advice about initial ("first time you were told") and complete disclosure ("told all details"). Non-parametric statistics and qualitative analysis were used.

Results: Participants included 59 females with CAH (median age: 37y, 92% White, 93% non-Hispanic) and 41 parents (median: 36y, 85% White, 93% non-Hispanic, daughter median: 26y). The 76% of females who received complete disclosure were younger (median age: 33y) and underwent surgery more recently (median decade: 1980s) than the 14% who received only initial disclosure (median: 47y, 1970s) and the 10% who did not receive any disclosure (median: 60y, 1960s, p = 0.0003, Summary Figure). Females reported median ages of initial and complete disclosure as 7-10y and 11-13y, respectively. Disclosure was preferred by 98% of females with initial disclosure by age 14y and complete disclosure by 18y. Parents reported similar findings. Most disclosures were by mothers (initial: 82%, complete: 64%). Doctors were more involved in complete vs. initial disclosures (complete: 47%, initial: 13%, p < 0.001). Qualitative analysis of advice about surgical disclosure revealed 8 themes.

Conclusions: Disclosure of childhood genital surgery to women with CAH has increased over time. Although timing of disclosure varied, women preferred disclosure, and that it be initiated before age 14y and completed by age 18y.

Introduction: Wilms tumor (WT) is the most common pediatric renal malignancy. Current guidelines that stratify WT risk and determine treatment courses are inadequate, as over 60 % of WT survivors develop treatment-related complications. Recently, numerous advances in establishing patient sub-groups with different clinical features have been realized by evaluating the adaptive immune receptor (IR) complementarity determining region-3 (CDR3) amino acid (AA) sequences, a reasonable series of successes, given the prominent role of the CDR3 in antigen binding, including tumor antigen binding. However, the possibility that adaptive IR chemical variability correlates with distinct survival outcomes for WT has not yet been explored.

Objective: The goal of this study was to isolate the T-cell receptor and B-cell receptor recombination, sequencing reads from WT RNAseq files, representing the actual tumor tissue, translate the sequences to AAs, identify the adaptive IR CDR3 domains, and determine whether the physicochemical properties of those CDR3 AA sequences correlated with survival probability distinctions.

Study design: WT RNA-seq files were mined to obtain the CDR3 AAs for various adaptive IRs. The physicochemical properties of these CDR3s were examined for trends in how those properties correlated with survival probabilities for WT patients, using a Kaplan-Meier analyses, verified via several approaches.

Results: The above processes indicated the association of the (a) IGL CDR3s' instability index and the (b) TRG CDR3s' fraction disorder promoting features with better outcomes. Additionally, the IGL CDR3 data were assessed using the Predictor of Natural Disordered Regions web tool, which strengthened the evidence for the association with the IGL CDR3 instability index with a better outcome.

Discussion: The approaches described here indicate that greater adaptive IR CDR3 instability and flexibility may serve as prognostic indicators; and may indicate the flexibility of CDR3 domains provides for greater opportunity to bind tumor antigens.

Conclusion: Further exploration and development of these approaches and findings may lead to new guidelines for more precise treatment regimens, or even watchful waiting periods, that could thereby decrease the lifetime occurrence of adverse events.

Background: Decreased bladder compliance is an important risk factor for upper urinary tract in children with neurogenic bladder dysfunction (NBD). Urodynamics is the gold standard in determining bladder compliance.

Objective: To investigate the relationship between low bladder compliance and urinary fibrosis markers in NBD.

Study design: Spina bifida patients with NBD, who admitted between March 2021 and July 2021 were included. Patients with low compliant bladders, no renal scar, no recurrent urinary tract infections formed low compliance, LC group. Normal compliance, NC group, was comprised of patients with normocompliant bladders and the same characteristics. Control group (Group C) consisted of patients for outpatient surgery and had no known bladder dysfunction. Compliance was calculated with the formula ΔV/ΔP and a value of under 15 ml/cmH2O was accepted as low. Age, gender, urine density, serum urea, creatinine levels and urodynamic parameters were noted. Urinary type 1, type 3 collagen and its precursor procollagen type 3 and serum type 1 and 3 collagen were determined by ELISA.

Results: 72 patients were included (LC group, n:31, NC group, n:24, C group n:17, mean age 7,39 ± 1,24 years). No significant difference was observed in the comparison of age, gender, urine density and serum urea and creatinine values. No significant difference was observed between the LC and NC groups for urodynamic parameters, except for bladder compliance. Urinary collagen type 1 in LC group (11,71 ± 3,02 ng/ml) was found to be significantly higher than that of the C group (9,45 ± 1,97 ng/ml) (p = 0,03). Urinary procollagen type 3 was significantly higher in LC group (103,15 ± 24 ng/ml) when compared to C group (82,42 ± 22,26 ng/ml) (p = 0.016). Urinary collagen type 1 level above 9.20 ng/ml was 80,6 % sensitive and 70,6 % specific and urinary procollagen type 3 level above 78 ng/ml was 87 % sensitive and 70,6 % specific in predicting low compliance.

Discussion: This study seems to be the first study in the literature to evaluate bladder fibrosis and compliance, biochemically, by measuring urinary collagen levels in NBD. Urinary fibrosis markers are not currently an alternative to urodynamics for bladder compliance, but they may have potential to reduce the need for urodynamics with this indication.

Conclusion: Determination of urinary collagen levels may be a marker of bladder wall fibrosis and may indirectly show decreased bladder compliance. It is plausible to say that invasive methods such as urodynamics may be less preferred for defining bladder compliance, instead, urinary biomarkers may have merit for this purpose in the future.