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1.
JAMA Netw Open ; 7(10): e2440251, 2024 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-39418018

RESUMO

Importance: Surgical care for children in the United States has become increasingly regionalized among fewer centers over time. The degree to which regionalization may be associated with access to urgent surgical care for time-sensitive conditions is not clear. Objective: To investigate whether transfers and travel distance have increased for 4 surgical conditions, and whether changes in transfers and travel distance have been more pronounced for rural vs urban children. Design, Setting, and Participants: This retrospective cross-sectional study analyzed data from 9 State Inpatient Databases from 2002 to 2017. Participants included children aged younger than 18 years undergoing urgent or emergent procedures for malrotation with volvulus, esophageal foreign body, and ovarian and testicular torsion. Exposure: Residential and hospital zip codes were categorized as rural or urban. Hospitals were categorized as pediatric hospitals, adult hospitals with pediatric services, and adult hospitals without pediatric services. Main Outcomes and Measures: Primary outcomes were transfer for care and travel distance between patients' home residences and the hospitals where care was provided. Transfer and travel distance were analyzed using multivariable regression models. Results: Among the 5865 children younger than 18 years undergoing procedures for malrotation with volvulus, esophageal foreign body, ovarian torsion, or testicular torsion, 461 (7.9%) resided in a rural area; 1097 (20.5%) were Hispanic, 1334 (24.9%) were non-Hispanic Black, and 2255 (42.0%) were non-Hispanic White; 2763 (47.1%) were covered by private insurance and 2535 (43.2%) were covered by Medicaid; and the median (IQR) age was 9 (2-14) years. Most care was provided at adult hospitals (73.4% with and 16.9% without pediatric services); the number of hospitals providing this care decreased from 493 to 292 hospitals (2002 vs 2017). Transfer was associated with rural residence (adjusted odds ratio [aRR], 2.3 [95% CI, 1.8-3.0]; P < .001) and increased over time (2017 vs 2002: aOR, 2.8 [95% CI, 2.0-3.8]; P < .001). Similarly, travel distance was associated with rural residence (adjusted risk ratio [aRR], 4.4 [95% CI, 3.9-4.8]; P < .001) and increased over time (2017 vs 2002: aRR, 1.3 [95% CI, 1.2-1.4]; P < .001). Rural children were more frequently transferred (2017 vs 2002) for esophageal foreign body (48.0% [12 of 25] vs 7.3% [4 of 55]; P < .001), ovarian torsion (26.7% [4 of 15] vs 0% [0 of 18]; P = .01), and testicular torsion (18.2% [2 of 11] vs 0% [0 of 16]; P = .04). Travel distance for rural children increased the most for torsions, from a median (IQR) of 19.1 (2.3-35.4) to 43.0 (21.6-98.8) miles (P = .03) for ovarian torsion and from 7.3 (0.4-23.7) to 44.5 (33.1-48.8) miles (P < .001) for testicular torsion. Conclusions and Relevance: In this cross-sectional study of children with time-sensitive surgical conditions, the number of hospitals providing urgent surgical care to children decreased over time. Transfers of care, especially among rural children, and travel distance, especially for those with ovarian and testicular torsion, increased over time.


Assuntos
Transferência de Pacientes , Humanos , Criança , Masculino , Feminino , Estudos Transversais , Estudos Retrospectivos , Pré-Escolar , Transferência de Pacientes/estatística & dados numéricos , Estados Unidos , Adolescente , Lactente , Acessibilidade aos Serviços de Saúde/estatística & dados numéricos , Hospitais Pediátricos/estatística & dados numéricos , População Rural/estatística & dados numéricos
2.
J Urol ; : 101097JU0000000000004242, 2024 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-39303147

RESUMO

PURPOSE: To ensure that research on kidney stones provides meaningful impact for the kidney stone community, patients and caregivers should be engaged as stakeholders in clinical trial design, starting at study inception. This project aimed to elicit, refine, and prioritize research ideas from kidney stone stakeholders to develop a patient-centered research agenda for clinical trials. MATERIALS AND METHODS: The Kidney Stone Engagement Core, a group of patients, caregivers, advocates, clinicians, and researchers, executed an iterative process of surveys and focus groups to elicit and refine research themes, which were then translated into research questions. A separate group of patients, caregivers, and clinicians prioritized these questions through parallel modified Delphi and crowd-sourced digital platforms. A research agenda was developed by the Kidney Stone Engagement Core based on the highest rated questions during a hybrid virtual/in-person capstone session. RESULTS: A total of 70 individuals (57 patients and caregivers, 13 researchers and clinicians) participated in the elicitation, 20 individuals (15 patients and caregivers, 5 researchers and clinicians) participated in refinement, and an additional 80 individuals (81 patients and caregivers, 9 researchers and clinicians) participated in prioritization. Key novel themes emerged from elicitation and refinement: ureteral stents, genetic evaluation, shared surgical decision-making, key subgroups, cumulative disease burden, genetic evaluation, and psychosocial support. Stakeholders generated 6 proposed trials from these themes focused on surveillance, surgical intervention, and medical prevention. CONCLUSIONS: Patients and caregivers valued comparative effectiveness kidney stone research that focused on individualized care, shared decision-making, and improvement of patient-reported experiences. This process provided actionable recommendations for future patient-centered clinical trials within kidney stone disease.

3.
J Pediatr Urol ; 2024 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-39299878

RESUMO

BACKGROUND: North American Pediatric Urology fellowship programs underwent a structural change in 2021 that allows more flexibility in training. Given this opportunity as well as widespread concern about the development of contemporary surgical trainees, it is prudent to understand in detail the current state of preparedness of pediatric urology fellowship graduates for independent practice. OBJECTIVE: The study aimed to determine recent pediatric urology graduates' reported levels of comfort both at graduation and following the start of clinical practice in performing select index procedures. We also queried the aspects of training and clinical practice perceived to be the most valuable for the development of surgical confidence. STUDY DESIGN: Graduates of ACGME approved pediatric urology fellowships from 2016 to 2021 were surveyed. Index procedures were described via brief case vignettes. Respondents were asked to indicate their comfort level with each index procedure following fellowship graduation and at the current time point. Comfort levels were defined by the degree of support that respondents would seek from senior colleagues in preparation for case booking. Respondents were also asked about the most helpful operative settings during training and factors contributing to high and low comfort. RESULTS: Fifty-three pediatric urologists (49%) completed the survey out of 109 invited. Most respondents practiced at an academic center. Perceived comfort was very high for low complexity procedures. The responses varied more widely for procedures of moderate and significant complexity (Figure). Across the cohort, there was a substantial increase in comfort between graduation and the current time point for all procedures queried. The most highly valued operative settings in fellowship were those offering real or simulated independence. Respondents most often attributed high comfort to robust case volumes and overall surgical skill gained in fellowship. DISCUSSION: New pediatric urology faculty differ widely in surgical confidence, particularly for more complex procedures. There is meaningful growth in the confidence and self-perceived independence of pediatric urologists during their initial years of practice. The early years are a critical time of continuing maturation and development that should be supported with structured systems of mentorship. Future challenges include low case volumes for rare conditions and the centralization of complex care. CONCLUSION: These findings will provide valuable context for pediatric urology fellowship directors as they evaluate and redesign their programs under the new, more flexible structure. There are opportunities to formalize early practice mentorship to support the growth of new faculty.

4.
Pediatr Qual Saf ; 9(5): e756, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39169948

RESUMO

Background: Pediatric urinary tract infections (UTIs) require early diagnosis and appropriate treatment to avoid short- and long-term morbidity. Baseline data from 13,000 children across a regional health system demonstrated wide variation in UTI management, including antibiotic choice, duration, and dosing. In 2019, the local antibiotic stewardship team recommended cephalexin as the ideal first-line UTI treatment due to its effectiveness, narrow spectrum, low cost, and palatability. This project aimed to improve first-line prescription of cephalexin as an empiric antibiotic treatment for uncomplicated UTIs from 34% to 75% in children 60 days to 18 years of age presenting to any site within the healthcare system within 6 months. Methods: A multidisciplinary team of key stakeholders reviewed baseline data and developed three key drivers. These included a standardized UTI pathway, electronic health record enhancements, and provider education. Interventions were supported by a literature review and implemented via Plan-Do-Study-Act cycles with data monitored bimonthly. The primary outcome was the percentage of patients prescribed cephalexin for presumed UTI over the total number of presumed UTI diagnoses treated with empiric antibiotics throughout the healthcare system. The balancing measure included 14-day return visits for a UTI-related diagnosis across the system. Results: After the release of the updated UTI pathway, first-line cephalexin prescribing for UTI improved from 34% to 66%. There was no change in 14-day revisits for UTI. Conclusions: Standardizing the diagnosis and management of UTIs across the spectrum of coordinated care led to improved system-wide adherence to local antibiotic stewardship guidelines for empiric UTI treatment.

7.
Urology ; 187: 64-70, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38458327

RESUMO

OBJECTIVE: To reveal barriers and opportunities to implement evidence for the management of pediatric kidney stone disease, we determined surgeon and institutional factors associated with preferences for the type of surgical intervention for kidney and ureteral stones. METHODS: We conducted a cross-sectional study of urologists participating in the Pediatric KIDney Stone Care Improvement Network (PKIDS) trial. Questionnaires ascertained strengths of urologists' preferences for types of surgery as well as characteristics of participating urologists and institutions. The outcome was the strength of preferences for ureteroscopy, shockwave lithotripsy, and percutaneous nephrolithotomy for four scenarios for which two alternative procedures are recommended by the AUA guidelines: (1) 2 cm kidney stone, (2) 9 mm proximal ureteral stone, (3) 1.5 cm lower pole kidney stone, (4) 1 cm nonlower pole kidney stone. Principal component analysis was performed to identify unique clusters of factors that explain surgical preferences. RESULTS: One hundred forty-eight urologists at 29 sites completed surveys. Stated preferences were highly skewed except for the choice between ureteroscopy and percutaneous nephrolithotomy for a 1.5 cm kidney stone. Shockwave lithotripsy ownership and local practice patterns most frequently associated with the strength of surgeons' preferences for the type of surgery. Principal component analysis revealed that three clusters of stone, patient, and heterogenous characteristics explained 30% of the variance in preferences. CONCLUSION: There is wide variation in the strengths of preferences for surgical interventions supported by current guidelines that are partially explained by surgeon and institutional characteristics. These results reveal opportunities to develop strategies for guidelines that consider real-world drivers of care.


Assuntos
Cálculos Renais , Padrões de Prática Médica , Humanos , Estudos Transversais , Cálculos Renais/cirurgia , Cálculos Renais/terapia , Criança , Padrões de Prática Médica/estatística & dados numéricos , Masculino , Feminino , Nefrolitotomia Percutânea/métodos , Ureteroscopia , Litotripsia , Inquéritos e Questionários , Cálculos Ureterais/cirurgia , Cálculos Ureterais/terapia
10.
J Pediatr Urol ; 20(1): 18-25, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-37802717

RESUMO

INTRODUCTION: Kidney stone disease in children is rising disproportionate to the general population, representing a disease population with a distinct biological mechanism as compared to adults. Factors influencing recurrent kidney stone disease in children are poorly characterized and the associations of the intestinal microbiome within sub-populations of kidney stone formers, however, are not well described. We evaluated a pilot cohort of children with nephrolithiasis comparing patients based on recurrent kidney stone episodes and abnormal 24-h urinary parameters, with dual aims to compare the microbiome signal in children with initial and recurrent nephrolithiasis and to explore additional associations in microbiome composition and diversity within this population. METHODS: Children aged 6-18 with a history of nephrolithiasis, without an active ureteral calculus or antibiotic exposure within 30 days of study entry were eligible to participate. All participants had a 24-h urine study within 6 months of study entry and provided a fecal sample. Microbiome samples were analyzed using 16S ribosomal DNA sequencing techniques for alpha and beta diversity comparing initial and recurrent stone formers as well as microbiome multivariate association (MaAsLin2) to determine differentially abundant taxa. Shotgun sequencing reads were aligned to custom oxidase degradation and butyrate production gene databases (5 databases total). Comparisons for MaAsLin2 and shotgun metagenomics, normalized to sequencing depth, were based on stone recurrence, sex, hypercalcuria (≤4 mg/kg/day), hyperoxaluria (≥45 mg/1.73 m2), and hypocitraturia (<310 mg/1.73 m2 [females] or < 365 mg/1.73 m2 [males]). RESULTS: A total of 16 enrolled children provided samples sufficient for analyses, including 9 girls and 7 boys, of whom 5 had experienced recurrent kidney stone events. Three participants had hypercalcuria, 2 had hyperoxaluria, and 4 had hypocitraturia. Comparisons of Formyl-CoA transferase between index and recurrent urinary stone disease revealed a trend towards higher mean abundance of the gene in initial stone formers (0.166% vs 0.0343%, p = 0.2847) (Summary Figure), while trends toward lower biodiversity were also noted in the recurrent stone cohort on both Faith (p = 0.06) and Shannon (p = 0.05) indices. Exploratory analyses found Eubacterium siraeum to be significantly greater in relative abundance in children with documented hypercalciuria (p = 0.001). DISCUSSION: Our pilot study demonstrates possible signals in both microbial diversity and oxalate gene expression, both of which are lower in recurrent pediatric kidney stone patients. These findings warrant further investigation as a potential diagnostic marker for future kidney stone events.


Assuntos
Microbioma Gastrointestinal , Hiperoxalúria , Cálculos Renais , Nefrolitíase , Urolitíase , Adulto , Masculino , Feminino , Humanos , Criança , Projetos Piloto , Nefrolitíase/epidemiologia , Urolitíase/epidemiologia , Recidiva , Fatores de Risco
11.
Urology ; 183: 3-10, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-37806455

RESUMO

OBJECTIVE: To review the status of comparative effectiveness studies for kidney stone disease with focus on study outcome, type, population, time trends, and patient-centered approaches. METHODS: A systematic scoping review was performed for articles published between January 1, 2005, and March 30, 2021, using keywords relevant to kidney stone disease. Studies published in English that compared two or more alternative methods for prevention, diagnosis, treatment, monitoring, or care delivery were included. Two reviewers independently reviewed abstracts and an arbitrator resolved discrepancies. Nine reviewers abstracted information from full-length studies. Descriptive statistics were summarized, and linear regression was performed to evaluate temporal trends of study characteristics. RESULTS: We reviewed 1773 abstracts and 707 full-length manuscripts focused on surgical intervention (440); medical expulsive therapy (MET) (152); analgesic control (80); and homeopathic, diagnostics, and/or prophylaxis (84). Randomized controlled trials were common across all outcome categories, including surgery (41.6%), MET (60.2%), analgesic control (81.3%), homeopathic (41.2%), diagnostic (47.6%), and prophylaxis (49.1%). Patient-reported outcomes were utilized in 71.7% and 95% of MET and analgesic control studies, respectively, but in the minority of all other study themes. Over time, meta-analyses and multicenter studies increased [P < .001]. CONCLUSION: Surgical and MET themes dominate published comparative literature in kidney stone disease. There is substantial variation in use of patient-reported outcomes across surgical themes. Multicentered studies and those generating higher level evidence have increased over time but opportunities exist to improve collaborative, high-quality, and patient-centered research in kidney stone disease.


Assuntos
Cálculos Renais , Humanos , Analgésicos , Cálculos Renais/diagnóstico , Cálculos Renais/terapia
13.
Urol Pract ; 10(6): 605-610, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37498314

RESUMO

INTRODUCTION: In 2014, the AUA published guidelines regarding the evaluation of cryptorchidism. This multi-institutional study aims to determine if these guidelines reduced the age of referral and the utilization of ultrasound in boys with cryptorchidism. We hypothesize that delayed referral continues, and utilization of ultrasound remains unchanged. METHODS: A retrospective review of boys referred for the evaluation of cryptorchidism was performed at 4 academic institutions, collecting data for 1 year prior (2013) and 2 nonconsecutive years following guideline creation (2015 and 2019). Across these time frames, we compared median ages at evaluation and surgery, and rates of patient comorbidities, orchiopexy, and preevaluation ultrasound. RESULTS: A total of 3,293 patients were included. The median age at initial pediatric urology evaluation in all cohorts was 39 months (IQR: 14-92 months). Following publication of the AUA Guidelines, there was no difference (P = .08) in the median age at first evaluation by a pediatric urologist between 2013 and 2015, and an increase (P = .03) between 2013 and 2019. Overall, 21.2% of patients received an ultrasound evaluation prior to referral, with no significant difference between 2013 and 2015 (P = .9) or 2019 (P = .5) cohorts. CONCLUSIONS: Our data suggest that, despite publication of the AUA Guidelines on evaluation and treatment of cryptorchidism, there has been no reduction in the age of urological evaluation or the utilization of imaging in boys with undescended testis. Finding alternative avenues to disseminate these evidence-based recommendations to referring providers and exploring barriers to guideline adherence is necessary to improve care for patients with cryptorchidism.


Assuntos
Criptorquidismo , Masculino , Humanos , Criança , Lactente , Pré-Escolar , Criptorquidismo/diagnóstico , Encaminhamento e Consulta , Orquidopexia/métodos , Estudos Retrospectivos , Ultrassonografia
14.
Urol Clin North Am ; 50(3): 465-475, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37385708

RESUMO

Pediatric nephrolithiasis is less common in children than in adults but the incidence has been rising rapidly, and it is now a public health and economic burden in the United States. There are challenges unique to children that should be taken into consideration when evaluating and managing pediatric stone disease. In this review, we present the current research on risk factors, emerging new technologies for treatment of stones and recent investigations on prevention of stones in this population.


Assuntos
Cálculos Renais , Adulto , Humanos , Criança , Cálculos Renais/epidemiologia , Cálculos Renais/terapia , Fatores de Risco
15.
Urology ; 177: 169-174, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37196830

RESUMO

OBJECTIVE: To assess, through an integrated primary and specialty care pediatric health system, the association of well-child checks prior to referral with final urological diagnosis with the aim to identify opportunities for earlier referral of care. METHODS: We performed a retrospective review of children referred from primary care to urology for undescended testis (UDT) within our integrated primary-specialty care health system in 2019, comparing children who had undescended testicles to those with either normal or retractile testicles based on the final urology examination. Demographics, including age, comorbidities, and the status of prior well-child check (WCC) within primary care, were reviewed. Outcomes of age at referral and surgical intervention for UDT were compared across referral categories. RESULTS: Stratifying by final diagnosis of 88 children included in the analysis, children with UDT were referred much later (85months, interquartile ranges 31-113) than children without UDT on final diagnosis (33months, interquartile ranges 15-74, P = .002). Furthermore, children with UDTs had a greater proportion with prior abnormal WCCs (N = 21/41, 51%) than those without UDT (N = 8/47, 17%) (P < .001). CONCLUSION: Children with prior abnormal WCCs were more likely to have a final diagnosis of UDT, with prior abnormalities being documented approximately 12months prior to referral, indicating opportunities for improved referral patterns to urology.


Assuntos
Criptorquidismo , Prestação Integrada de Cuidados de Saúde , Masculino , Criança , Humanos , Criptorquidismo/diagnóstico , Criptorquidismo/cirurgia , Encaminhamento e Consulta , Orquidopexia
16.
Semin Pediatr Surg ; 32(2): 151275, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37075656

RESUMO

Quality and process improvement (QI/PI) in children's surgical care require reliable data across the care continuum. Since 2012, the American College of Surgeons' (ACS) National Surgical Quality Improvement Program-Pediatric (NSQIP-Pediatric) has supported QI/PI by providing participating hospitals with risk-adjusted, comparative data regarding postoperative outcomes for multiple surgical specialties. To advance this goal over the past decade, iterative changes have been introduced to case inclusion and data collection, analysis and reporting. New datasets for specific procedures, such as appendectomy, spinal fusion for scoliosis, vesicoureteral reflux procedures, and tracheostomy in children less than 2 years old, have incorporated additional risk factors and outcomes to enhance the clinical relevance of data, and resource utilization to consider healthcare value. Recently, process measures for urgent surgical diagnoses and surgical antibiotic prophylaxis variables have been developed to promote timely and appropriate care. While a mature program, NSQIP-Pediatric remains dynamic and responsive to meet the needs of the surgical community. Future directions include introduction of variables and analyses to address patient-centered care and healthcare equity.


Assuntos
Melhoria de Qualidade , Traqueostomia , Criança , Humanos , Estados Unidos , Pré-Escolar , Sistema de Registros , Desenvolvimento de Programas , Complicações Pós-Operatórias/prevenção & controle
17.
J Urol ; 209(6): 1194-1201, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36812398

RESUMO

PURPOSE: Little is known about the impact of ureteral stents on youth having stone surgery. We evaluated the association of ureteral stent placement before or concurrent with ureteroscopy and shock wave lithotripsy with emergency department visits and opioid prescriptions among pediatric patients. MATERIALS AND METHODS: We conducted a retrospective cohort study of individuals aged 0-24 years who underwent ureteroscopy or shock wave lithotripsy from 2009-2021 at 6 hospitals in PEDSnet, a research network that aggregates electronic health record data from children's health systems in the United States. The exposure, primary ureteral stent placement, was defined as a stent placed concurrent with or within 60 days before ureteroscopy or shock wave lithotripsy. Associations between primary stent placement and stone-related ED visits and opioid prescriptions within 120 days of the index procedure were evaluated with mixed-effects Poisson regression. RESULTS: Two-thousand ninety-three patients (60% female; median age 15 years, IQR 11-17) had 2,477 surgical episodes; 2,144 were ureteroscopy and 333 were shock wave lithotripsy. Primary stents were placed in 1,698 (79%) ureteroscopy episodes and 33 (10%) shock wave lithotripsy episodes. Ureteral stents were associated with a 33% higher rate of emergency department visits (IRR 1.33; 95% CI 1.02-1.73) and a 30% higher rate of opioid prescriptions (IRR 1.30; 95% CI 1.10-1.53). The magnitudes of both associations were greater for shock wave lithotripsy. Results were similar for age <18 and were lost when restricted to concurrent stent placement. CONCLUSIONS: Primary ureteral stent placement was associated with more frequent emergency department visits and opioid prescriptions, driven by pre-stenting. These results support elucidating situations where stents are not necessary for youth with nephrolithiasis.


Assuntos
Cálculos Renais , Litotripsia , Cálculos Ureterais , Humanos , Feminino , Adolescente , Criança , Masculino , Ureteroscopia/métodos , Analgésicos Opioides/uso terapêutico , Estudos Retrospectivos , Cálculos Renais/cirurgia , Serviço Hospitalar de Emergência , Stents , Cálculos Ureterais/cirurgia , Resultado do Tratamento
18.
Pediatr Nephrol ; 38(8): 2615-2622, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-36688940

RESUMO

BACKGROUND: Diagnosing genetic kidney disease has become more accessible with low-cost, rapid genetic testing. The study objectives were to determine genetic testing diagnostic yield and examine predictors of genetic diagnosis in children with nephrolithiasis/nephrocalcinosis (NL/NC). METHODS: This retrospective multicenter cross-sectional study was conducted on children ≤ 21 years old with NL/NC from pediatric nephrology/urology centers that underwent the Invitae Nephrolithiasis Panel 1/1/2019-9/30/2021. The diagnostic yield of the genetic panel was calculated. Bivariate and multiple logistic regression were performed to assess for predictors of positive genetic testing. RESULTS: One hundred and thirteen children (83 NL, 30 NC) from 7 centers were included. Genetic testing was positive in 32% overall (29% NL, 40% NC) with definite diagnoses (had pathogenic variants alone) made in 11.5%, probable diagnoses (carried a combination of pathogenic variants and variants of uncertain significance (VUS) in the same gene) made in 5.4%, and possible diagnoses (had VUS alone) made in 15.0%. Variants were found in 28 genes (most commonly HOGA1 in NL, SLC34A3 in NC) and 20 different conditions were identified. Compared to NL, those with NC were younger and had a higher proportion with developmental delay, hypercalcemia, low serum bicarbonate, hypophosphatemia, and chronic kidney disease. In multivariate analysis, low serum bicarbonate was associated with increased odds of genetic diagnosis (ß 2.2, OR 8.7, 95% CI 1.4-54.7, p = 0.02). CONCLUSIONS: Genetic testing was high-yield with definite, probable, or possible explanatory variants found in up to one-third of children with NL/NC and shows promise to improve clinical practice. A higher resolution version of the Graphical abstract is available as Supplementary information.


Assuntos
Cálculos Renais , Nefrocalcinose , Nefrolitíase , Criança , Humanos , Adulto Jovem , Adulto , Nefrocalcinose/diagnóstico , Nefrocalcinose/genética , Bicarbonatos , Estudos Transversais , Nefrolitíase/diagnóstico , Nefrolitíase/genética , Cálculos Renais/genética , Testes Genéticos
19.
J Pediatr Urol ; 19(1): 90.e1-90.e8, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36424292

RESUMO

INTRODUCTION: The P.A.D.U.A. technique is a method of addressing congenital urethral narrowing. It involves passive dilation with a series of progressively larger indwelling catheters. Utilization is limited by scant literature, particularly regarding technical details and long-term durability. Tools for achieving safe and reliable urinary drainage are critical in these patients, who require careful stewardship of their kidney and bladder function. OBJECTIVE: To describe long-term urethral patency and urinary function following P.A.D.U.A., and to provide sufficient technical detail to reproduce the technique. STUDY DESIGN: Patients with congenital urethral narrowing managed with P.A.D.U.A. were identified and chart review was performed. Details of catheter exchange sequences were compiled and described. The primary outcome was the attainment of adequate urethral caliber by successful completion of P.A.D.U.A., and the secondary outcome was voiding per urethra at most recent follow-up. RESULTS: P.A.D.U.A. achieved adequate urethral caliber in 9/11 (82%) of patients. This included seven patients with Prune Belly Syndrome, one with isolated urethral atresia, and one with a cloacal anomaly. P.A.D.U.A. failed to achieve urethral patency in one patient with urethral duplication, who was unable to progress through the catheter sequence, and one patient with Prune Belly Syndrome, who completed P.A.D.U.A. but developed recurrent narrowing one week later. There were no delayed failures of urethral patency. Patients who achieved patency underwent a median of seven catheter placements over 92 days. Median (range) initial and final catheter sizes were 3.5F (1.9-8F) and 14F (8-16F). While 82% achieved patency, only 3/11 (27%) were voiding spontaneously per native urethra at most recent follow-up. DISCUSSION: This series of patients undergoing P.A.D.U.A. for primary treatment of congenital urethral narrowing is the largest to date and provides granular technical details. It aligns with prior reports suggesting that P.A.D.U.A. achieves urethral patency in most patients with Prune Belly Syndrome or isolated urethral atresia, but has limited application in the hypoplastic duplicated urethra. Despite high rates of urethral patency in this select population, many patients will not achieve and maintain spontaneous voiding without catheterization. This is likely due to ongoing deterioration of bladder function caused by the prenatal developmental insult, paralleling the phenomenon seen in posterior urethral valves. CONCLUSION: P.A.D.U.A. is an effective and durable technique for achieving urethral patency. However, due to complicating factors such as the underlying bladder pathology present in many patients, urethral patency achieved with P.A.D.U.A. does not guarantee long-term safe and reliable spontaneous emptying per urethra.


Assuntos
Síndrome do Abdome em Ameixa Seca , Doenças Uretrais , Obstrução Uretral , Feminino , Gravidez , Humanos , Uretra/cirurgia , Uretra/anormalidades , Doenças Uretrais/complicações , Rim , Obstrução Uretral/complicações
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