BACKGROUND: Posterior urethral valves (PUV) are the most common cause of lower urinary tract obstruction in male infants, occurring in 1 in 4000 live male births and constituting a significant cause of urinary obstructio...BACKGROUND: Posterior urethral valves (PUV) are the most common cause of lower urinary tract obstruction in male infants, occurring in 1 in 4000 live male births and constituting a significant cause of urinary obstruction, long-term complications and end-stage renal disease (ESRD) in children. PUV is a multifactorial pathology, involving both genetic and environmental contributions. Congenital anomalies of the kidney and urinary tract (CAKUT), such as renal agenesis, hypoplasia and vesicoureteral reflux, share etiological and phenotypic overlap with PUV. While CAKUT can arise from monogenic causes, the specific genetic factors remain poorly understood. OBJECTIVE: To investigate the genetic basis of PUV by identifying potential genetic markers through exome analysis in case-parent trio and their implications for disease pathogenesis. METHODS: Five patients with isolated PUV presenting with relatively severe clinical manifestations underwent whole-exome sequencing in case-parent trio. Variants were filtered based on read depth, minor allele frequency and functional impact. In-silico analysis included pathogenicity prediction, evolutionary conservation and domain localization. RESULTS: Seven rare variants in FREM2 (13q13.3) were identified across all five patients. Two patients harbored identical homozygous variants (c.9232A > G; p.Ile3078Val), while three patients exhibited compound heterozygosity. The variants showed variable pathogenicity, with c.4037G > A; p.Gly1346Glu demonstrating high impact (CADD score 21.6) and consistent deleterious predictions. Four variants affected highly conserved regions of the FREM2 and all but one resulted in significant physicochemical amino acid changes. CONCLUSIONS: This study proposes the role of FREM2 as a candidate gene in PUV pathogenesis, highlighting its role in urinary tract development through extracellular matrix interactions. The identification of both homozygous and compound heterozygous variants supports a recessive inheritance pattern for PUV. These findings provide new insights into the genetic etiology of PUV and potential targets for future diagnostic and therapeutic interventions. Further research is necessary to elucidate the functional impact of these variants and explore their potential in genetic counselling and therapeutic interventions.
INTRODUCTION: Daytime urinary incontinence (DUI) is a prevalent condition in children that can have a negative impact on both their quality of life and their parents' psychosocial wellbeing. Parents play a central role i...INTRODUCTION: Daytime urinary incontinence (DUI) is a prevalent condition in children that can have a negative impact on both their quality of life and their parents' psychosocial wellbeing. Parents play a central role in care and often initiate referrals. Despite this, parental experiences are underexplored. OBJECTIVE: The aim of this study was to explore how parents perceive and manage their child's DUI and the associated healthcare process. STUDY DESIGN: A mixed-methods study was set up. In the qualitative phase, semi-structured interviews were conducted with parents of children aged 4-12 years who had completed treatment for DUI at our outpatient clinic. Based on these interviews, a questionnaire was developed and distributed to all parents of children aged 4-18 years who were treated by a paediatrician or paediatric urologist between January 2016 and August 2019. RESULTS: Saturation was reached after seven interviews, revealing three domains influencing care experience. The questionnaire was completed by 85 respondents (response rate 29.5%). 1. Diagnostics/therapy: Diagnostic procedures were generally well tolerated by children, and voiding diaries were not burdensome for parents. Most parents aimed for complete dryness, 64% felt treatment aligned with their goals and 43% reported achieving their goal. 2. Social context: Most parents (75.3%) were concerned about UI. Family life was affected in 36.5% of cases, and 42.4% felt unable to adequately support their child. 3. Interaction between professional and parent/child: Care was perceived as child-centred by 87.1%, and 78.8% felt stimulated to discuss their own concerns. According to parents, 64.8% of children felt comfortable discussing UI with the care professional. Most parents (85.7%) felt involved in treatment planning. However, when asked about their ability to choose a treatment, 49.4% responded 'neutral' and 22,9% disagreed. The mean overall satisfaction score from parents was 7.5 out of 10 (with 1 being the lowest and 10 the highest possible score). DISCUSSION: While overall satisfaction was high, experiences varied, and less than half of parents achieved their goal at the end of the treatment. Some parents primarily sought guidance rather than complete dryness. A lack of dialogue about goals or treatment options may leave needs (like guidance) unmet and lead to unnecessary care (e.g. treatment for total dryness). CONCLUSION: Parents' experiences overall are positive, but can vary widely, affected by their goals and expectations. These findings highlight the importance of discussing expectations to improve outcomes and reduce healthcare use.
BACKGROUND: Endoscopic treatment has become a widely used minimally invasive alternative to ureteral reimplantation for vesicoureteral reflux (VUR) in children, with reported success rates between 70% and 90%. Despite ad...BACKGROUND: Endoscopic treatment has become a widely used minimally invasive alternative to ureteral reimplantation for vesicoureteral reflux (VUR) in children, with reported success rates between 70% and 90%. Despite advances in technique and patient selection, a reliable predictive model for treatment outcomes is still lacking. Small-for-gestational-age (SGA) status, reflecting perinatal growth restriction, has been linked to congenital urological disorders and developmental disparities, but its impact on VUR treatment outcomes remains unknown. OBJECTIVE: To investigate whether being born SGA is associated with an increased risk of endoscopic treatment failure in children with primary VUR. STUDY DESIGN: This retrospective cohort study included children who underwent endoscopic treatment for primary VUR between 2013 and 2023 at a tertiary teaching hospital. Clinical variables included birth parameters, reflux grade, renal scarring, differential renal function (DRF), voiding dysfunction, and operative details. SGA was defined as birth weight below the 10th percentile for gestational age and sex. Univariate and multivariate logistic regression analyses were performed to identify predictors of treatment failure. RESULTS: Sixty-five children (40 girls, 25 boys; 104 ureters) were included. Ten patients (15.4%) were SGA and 55 (84.6%) non-SGA. There were no significant differences between the SGA and non-SGA groups in gestational age at birth, VUR grade distribution, renal scarring, DRF, age at operation or injection material (all p > 0.05). The success rate was significantly lower in SGA patients compared with non-SGA peers (27.8% vs. 79.1%, p < 0.001). Multivariate analysis identified SGA as an independent risk factor for treatment failure (OR: 12.76 (95% CI: 3.49-46.61, p = 0.001). CONCLUSION: Being born SGA is associated with a markedly reduced success rate of endoscopic treatment for primary VUR, independent of other prognostic factors. Recognition of SGA status may improve preoperative risk assessment and guide surgical decision-making. Further validation in larger cohorts could support its integration into clinical counseling and individualized treatment planning.
Cystoscopy is a cornerstone of pediatric urology, enabling direct visualization of the bladder and ureteral orifices during diagnostic and therapeutic procedures. We describe the MEATIC technique, based on intravesical i...Cystoscopy is a cornerstone of pediatric urology, enabling direct visualization of the bladder and ureteral orifices during diagnostic and therapeutic procedures. We describe the MEATIC technique, based on intravesical instillation of iodinated contrast during cystoscopy. Because of its higher density compared with urine and blood, the contrast forms a dependent layer at the bladder base, creating a clear optical interface at the trigone. This facilitates identification of ureteral orifices and visualization of ureteral jets, particularly to confirm ureteral patency after subureteric bulking-agent injection. The technique may also improve visualization in selected cases of gross hematuria. No complications were observed overall.
INTRODUCTION: Myelomeningocele (MMC) is a congenital condition associated with neurogenic bladder (NB), requiring consistent medical follow up (FU) to prevent complications. However, FU loss is a persistent issue that ca...INTRODUCTION: Myelomeningocele (MMC) is a congenital condition associated with neurogenic bladder (NB), requiring consistent medical follow up (FU) to prevent complications. However, FU loss is a persistent issue that can lead to adverse outcomes such as chronic kidney disease. Understanding the extent and causes of FU loss is crucial for improving patient care and outcomes. OBJECTIVE: To analyze the rate of FU loss in pediatric patients with NB due to MMC, identify contributing factors, evaluate initial treatment approaches and renal function status. METHODS: A longitudinal, retrospective observational multicentric study was conducted using data from pediatric centers in Argentina and Chile. Patients with less than two years of FU were excluded. Collected demographic data included age, sex, consultation dates, and treatment details. FU loss was defined as no consultation for over two years. Statistical analysis was performed using chi-square tests (p < 0.05). RESULTS: Among 667 patients, FU loss exceeding two years was observed in 365 (54.72%). The primary reason for FU loss was patient inaccessibility (67.31%), followed by changes in healthcare provider (23.56%) and financial constraints (3.29%). FU loss was significantly higher in Argentina (59.12%) compared to Chile (28.87 %) p < 0.05 and in public hospitals (60.54%) compared to private institutions (39.45%) p < 0.05. Patients with inconsistent follow versus complete FU develop end stage renal disease in 11.5 % vs 3.99 % (p < 0.05). Initial proactive management was observed in 22.04% of patients. CONCLUSION: FU loss in patients with MMC is a major issue. In our cohort around 55% of the patient had no urologic consultation for two years being patient inaccessibility the principal cause. This may lead to an increased risk in end stage renal failure. Strategies to improve retention and ensure specialized care are needed.
BACKGROUND: Differences of sex development (DSD) are a spectrum of congenital conditions characterized by discordant chromosomal, gonadal, or anatomic sex. Clinical presentations and experiences vary widely, yet affected...BACKGROUND: Differences of sex development (DSD) are a spectrum of congenital conditions characterized by discordant chromosomal, gonadal, or anatomic sex. Clinical presentations and experiences vary widely, yet affected individuals often face shared challenges. Little is known about how individuals with DSD assess their own outcomes. OBJECTIVE: This systematic review aimed to evaluate the range, quality, and readability of patient-reported outcome measures (PROMs) used in individuals with DSD. STUDY DESIGN: A comprehensive search was conducted across electronic databases of Ovid MEDLINE, Embase, PsycINFO, CINAHL, and Cochrane from inception to September 15, 2023. Original DSD studies published in English and reporting on patient-completed PROMs were included. For PROMs used by three or more studies, readability was assessed using several established readability metrics, PROM content was mapped against a well-established health-related quality of life (HRQL) framework. Descriptive statistics were calculated. RESULTS: From the 163 included studies, 24 PROMs were included in readability and content analysis. Participant ages ranged from 7 to 50 years. The most frequently used PROMs included the Female Sexual Function Index (n = 19), Pediatric Quality of Life Inventory (n = 15), and Body Image Scale for Evaluating Transsexuals (n = 14). Readability ranged from a reading grade level of 1.5-5.2 across pediatric PROMs, 2.2-6.0 for adolescent/adults, and 3.5-9.5 for adults. Half (n = 12, 50.0%) failed to meet grade level readability recommendations. Individual PROM items (n = 580) were mapped to seven domains. Most mapped to psychological wellbeing (n = 288, 49.7%), sexual wellbeing (n = 105, 18.1%), and social wellbeing (n = 54, 9.3%). Multiple PROMs contained outdated terminology and 23.8% (n = 138) were double-barreled. DISCUSSION: Limitations were that only English language papers were included, and full content mapping and readability analysis was limited to PROMS published in 3 or more studies. CONCLUSION: This study met the intended aims. Many PROMs commonly used in DSD literature failed to meet readability recommendations. Substantial heterogeneity was noted in PROM content, and no single PROM was found to be comprehensive. A validated DSD-specific PROM is urgently needed.
INTRODUCTION: Stomal stenosis is a common complication of continent catheterizable channels. While mild issues can often be managed conservatively, persistent catheterization difficulties or discomfort may require surgic...INTRODUCTION: Stomal stenosis is a common complication of continent catheterizable channels. While mild issues can often be managed conservatively, persistent catheterization difficulties or discomfort may require surgical revision. However, surrounding scar tissue can be suboptimal for incorporation and can limit surgical options. In those cases, oral mucosa inlay grafts may offer an alternative. OBJECTIVE: To evaluate the feasibility and outcomes of oral mucosa inlay grafts. STUDY DESIGN: A single institution, retrospective case series of patients (2007-2024) with suprafascial channel revisions incorporating oral mucosa inlay grafts was done. Patient and stomal characteristics were reviewed and longitudinal clinical and surgical outcomes were assessed. RESULTS: We identified 11 patients (9 female) who received oral mucosa inlay following: Mitrofanoff appendicovesicostomy (5/11), Monti-Yang ileovesicostomy (3/11), appendicocecostomy (3/11) in the right lower quadrant (6/11), umbilicus (3/11), neo-umbilicus (1/11) and the midline incision (1/11). All revisions were due to cicatrix or "hooding", which can cover or obstruct the stoma opening. Median time to revision was 18 months (range 11-89 months). With increasing experience in different scar characteristics, our dissection prior to grafting evolved from deep radial incisions into the healthy channel to excision of hypertrophic scar tissue and mobilization of the suprafascial channel. At a median follow-up of 46 months (range 9-211 months) post-grafting, 3/11 patients required reintervention and 2/11 experienced intermittent catheterization difficulties that were managed conservatively. All patients were successfully catheterizing at their most recent follow-up, with a median of 28 months (range 7-166 months) since their reintervention or intermittent difficulty. DISCUSSION: Despite our long follow-up, larger sample sizes are needed to refine an individualized approach and to draw more definitive conclusions on long-term efficacy of diverse stoma stenosis phenotypes. CONCLUSION: Based on our experience, oral mucosa inlay grafts are a feasible stoma revision strategy. Complete excision of hypertrophic scar tissue may further improve surgical outcomes.
BACKGROUND: Nocturnal enuresis (NE) is frequently accompanied by emotional distress, including shame, anxiety, and social embarrassment. However, whether enuresis-related psychological stress influences treatment respons...BACKGROUND: Nocturnal enuresis (NE) is frequently accompanied by emotional distress, including shame, anxiety, and social embarrassment. However, whether enuresis-related psychological stress influences treatment response remains unclear. OBJECTIVE: To determine the prevalence of NE-related psychological stress and to evaluate whether baseline emotional distress is independently associated with treatment outcomes in children. STUDY DESIGN: In this prospective cohort study, 257 children with NE (mean age 7.8 ± 2.0 years) were enrolled. Psychological stress was assessed using a structured two-step interview focused on emotional responses directly attributable to NE. Children were classified as non-stress only if they denied both global distress and all predefined emotional domains (shame, upset, anger, depressive mood, anxiety/fear). All patients received standardized urotherapy, with pharmacological treatment added as clinically indicated. Treatment response was categorized according to ICCS definitions. Multivariate logistic regression analysis was performed adjusting for age, sex, NE type, and baseline enuresis frequency. RESULTS: Psychological stress was reported in 206 children (80.2%), with shame being the most frequently reported emotion (58.8%). Baseline clinical characteristics were comparable between groups. Treatment response rates at 3 months and final follow-up did not differ significantly between stress and non-stress groups. In multivariate analysis, psychological stress was not independently associated with treatment response (p = 0.770), whereas baseline enuresis frequency was independently associated with outcome (p = 0.039). DISCUSSION: Although emotional distress was highly prevalent, it was not independently associated with treatment response when standardized therapy was applied. However, given the use of a non-validated stress assessment tool and limited power to detect small effect sizes, a modest association cannot be entirely excluded. CONCLUSION: Psychological stress is common in children with NE but was not independently associated with treatment response in this prospective cohort. CLINICAL/TRANSLATIONAL APPLICABILITY: Standardized treatment strategies for NE may be applied regardless of baseline emotional distress, while recognition and management of psychosocial burden remain important components of comprehensive care.
OBJECTIVE: To develop a clinical prediction model using general clinical and renal ultrasound parameters to noninvasively monitor baseline renal function in children with unilateral ureteropelvic junction obstruction (UP...OBJECTIVE: To develop a clinical prediction model using general clinical and renal ultrasound parameters to noninvasively monitor baseline renal function in children with unilateral ureteropelvic junction obstruction (UPJO), thereby reducing the need for invasive procedures. MATERIALS AND METHODS: This prospective study included 379 children with unilateral UPJO treated between March 2019 and December 2022. Patients were randomly divided into training and validation sets (7:3 ratio). Binary logistic regression identified independent predictors of impaired differential renal function (DRF), which were incorporated into a predictive nomogram. Model performance was evaluated using ROC analysis, calibration curves, and decision curve analysis (DCA). RESULTS: A total of 379 children with UPJO were included in this study. Renal parenchymal thickness (PT) min, Hydronephrosis volume/Renal volume (HV/RV), and corrected contralateral renal volume (RV) were independent predictors of impaired baseline DRF. A nomogram based on these predictors was developed to estimate the risk of baseline DRF impairment in children with UPJO. The area under the receiver operating characteristics curve (ROC) was 0.778 (95% CI: 0.715-0.842) and 0.925 (95% CI: 0.866-0.985) in the training and validation sets, respectively, showing good differentiation ability, and the calibration curve and clinical decision analysis curve validated the better calibration ability and clinical net benefit of the model. CONCLUSIONS: A nomogram incorporating PTmin, HV/RV, and corrected contralateral renal volume effectively predicts baseline DRF impairment in children with UPJO, showing robust performance in internal validation. External validation is warranted to confirm its clinical applicability.