Congenital Anomalies Of Urinary Tract Research Articles

Incremental hemodialysis in pediatric patients.

Incremental hemodialysis follows the concept of adjusting dialysis dose according to residual kidney function. Data on incremental hemodialysis in pediatric patients is lacking. We conducted a retrospective analysis of children initiating hemodialysis between January 2015 and July 2020 in a single tertiary center, comparing the characteristics and outcomes of those who commenced with incremental hemodialysis vs with conventional thrice-weekly regimen. Data onforty patients, 15 (37.5%) on incremental hemodialysis and 25 (63%) on thrice-weekly hemodialysis were analyzed. No differences in age, estimated glomerular filtration rate and metabolic parameters were noted between groups at baseline, but there were more males (73 vs 40%, p = 0.04), more patients with congenital anomalies of kidney and urinary tract (60 vs 20%, p = 0.01), higher urine output (2.5 ± 1 vs 1 ± 0.8ml/kg/h, p < 0.001), lower use of antihypertensive medications (20 vs 72%, p = 0.002) and lower prevalence of left ventricular hypertrophy (6.7 vs 32%, p = 0.003) in the incremental hemodialysis group vs thrice-weekly hemodialysis. During follow up, 5 (33%) incremental hemodialysis patients were transplanted, 1 (7%) remained on incremental hemodialysis at 24months, and 9 (60%) transitioned to thrice-weekly hemodialysis at a median (IQR) time of 8.7 (4.2, 11.8) months. At last follow up, fewer patients who initiated incremental hemodialysis had left ventricular hypertrophy (0 vs 32%, p = 0.016) and urine output < 100ml/24h (20 vs 60%, p = 0.02) compared to thrice-weekly hemodialysis, with no significant differences in metabolic or growth parameters. Incremental hemodialysis is a viable option for initiating dialysis in selected pediatric patients, that may help improve patients' quality of life and reduce dialysis burden without compromising clinical outcome.

Prevalence of Enterococcal Urinary Tract Infections With Positive Nitrites in Urinalysis in Pediatric Patients With High-Risk for Enterococcal Infections.

Enterococcus is a relatively uncommon pathogen that causes urinary tract infections (UTIs) in healthy children. Most enterococcal infections occur in patients with risk factors such as anatomical or functional urinary tract anomalies, also known as CAKUT (congenital anomalies of kidney and urinary tract). Children who are suspected of having UTIs and who have certain risk factors are often treated specifically for enterococcal infection as part of their empiric regimen. Our primary objective was to determine the prevalence of enterococcal UTIs among high-risk children, and specifically among those with positive nitrite tests, with the goal of avoiding treatment with specific anti-enterococcal agents. This retrospective study included all the episodes of UTI treated at a tertiary pediatric center during 2010 to 2018. The data collected from medical records included nephrological and urological risk factors, nitrite status, and isolated pathogens. Of 931 episodes of UTI, 467 (50%) were considered high-risk. In all, 24 of the latter had Enterococcus as a single pathogen; 23 (96%) of these occurred in patients with negative nitrites in the first urine dipstick taken. The sole patient with high-risk factors, a positive nitrite test and coexisting enterococcal UTI had a history of previous enterococcal UTIs. In pediatric patients with nephrological and urological risk factors, who have positive nitrites in urinalysis, the risk for enterococcal UTI appears substantially low. Therefore, in this context, specific anti-enterococcal empirical antibiotic therapy may be unnecessary.

#5623 PERITONEAL DIALYSIS AND POSTOPERATIVE OUTCOMES IN CHILDREN AFTER CARDIAC SURGERY: A SINGLE-CENTER COHORT STUDY

Abstract Background and Aims Acute kidney injury (AKI) is a frequent complication in neonates and infants after congenital heart disease surgery, with great impact on morbidity and mortality. Peritoneal dialysis (PD) is the renal replacement therapy of choice, as it allows continuous gentle ultrafiltration with minimal impact on hemodynamic status. However, there is no standardized prescription. The present study aimed to describe our experience of using PD in the management of AKI after cardiac surgery in pediatric patients and the postoperative outcomes. Method Single-center cross-sectional study including 21 children undergoing cardiac surgery between 2017 and 2022, in a congenital heart disease reference center. Demographic and clinical data were collected from the electronic records. Results Of the 21 patients treated with PD, 11 were female. Mean age was 32 ± 45 days and median weight was 3.4 kg (IQR 0.5). All pregnancies had been full-term with a mean birth weight of 3.2 ± 0.3 kg. No congenital urinary tract anomalies had been previously documented. Previous history of AKI was present in 2 patients. Transposition of the great arteries was the most common surgical indication (52%). RACHS-1 score was ≥4 in 12 patients and median PRISM-IV score was 6.5% (IQR 6). Cardiopulmonary bypass was performed in 19 patients with a mean time of 181 ± 72 minutes and a mean aortic clamping time of 94 ± 29 minutes. All patients required inotropic support after cardiac surgery with ≥2 drugs, for 197 ± 136 hours. Median time with mechanical ventilation support was 126 hours (IQR 288) and median length of stay at the intensive care unit (ICU) was 9 days (IQR 15.3).The indications for PD initiation were anuria (66.7%), oliguria (23.8%) and fluid overload (9.5%). Median time between cardiac surgery and AKI diagnosis was 2.5 hours (IQR 8.8) and between AKI diagnosis and PD initiation was 1.8 hours (IQR 4.3). Median duration under dialysis was 2 days (IQR 3.5). Exchange volume of dialysate varied between 6 and 15 mL/kg at the beginning of PD. In 11 patients, this volume was progressively increased to a maximum of 60 mL/kg (minimum: 30 mL; maximum: 120 mL). Continuous veno-venous hemodiafiltration was required in 3 patients, mainly due to mechanical catheter dysfunction. Complications related to PD occurred in 5 patients: 1 patient developed peritonitis, 1 patient had mechanical catheter dysfunction and 3 patients had peri-catheter leak. Complete recovery of renal function was achieved in 14 patients. Longer time on PD was associated with lower weight before surgery (p = 0.04), longer time on mechanical ventilation and inotropic support (p &amp;lt; 0.001), and longer stay at the ICU (p &amp;lt; 0.001). Time on inotropic support could predict time on PD using a multiple regression model (adjusted R2 = 59%, p = 0.003), adjusted to cardiopulmonary bypass time, time on mechanical ventilation support and weight before surgery (adjusted ß = 0.7, p = 0.005). Eight patients died during hospitalization, due to multiorgan failure (38%), cardiogenic shock (38%), disseminated intravascular coagulation (13%) and septic shock (13%). Longer cardiopulmonary bypass time was associated with in-hospital mortality (149 ± 53 vs 235 ± 46, p = 0.004). Both the time between AKI diagnosis and PD initiation and the time on PD were not associated with in-hospital mortality. Conclusion Our study suggests that PD is a safe and effective dialysis modality in the management of post-cardiac surgery AKI in pediatric population. Early identification of high-risk infants is important to implement preventive measures.

#4923 ARTERIOVENOUS FISTULAS AS HEMODIALYSIS ACCESS IN A PEDIATRIC POPULATION – IS YOUNGER AGE A REASON TO MAINTAIN CENTRAL VENOUS CATHETER?

Abstract Background and Aims In the pediatric population, transplantation remains the first-line therapy in patients with end-stage renal disease (ESRD). However, it is not always possible, increasing the need for other kidney replacement therapy (KRT) modalities, and hemodialysis (HD) has been growing as a modality choice in recent years. To provide quality HD treatment, efficient vascular access is mandatory, and the arteriovenous fistula (AVF) is advocated as the best long-term access option. However, its creation is technically challenging, and its development and maintenance are some of the most difficult elements in the pediatric population. In this study, we describe our experience in the utilization of AVFs in children and adolescents on HD. Method We conducted a retrospective study including all the AVFs performed in our center on underage patients between January 2006 and December 2022. We reviewed the medical records, collected data on demographic variables, AVF characteristics, blood test results, and clinical outcomes. Statistical analysis was performed using SPSS software. Results Forty-three AVFs were performed in 32 pediatric patients. The median age at first AVF construction was 13.5 years (min 4.8; max 17.9). The most frequent etiology of ESRD was congenital anomalies of kidney and urinary tract (n = 20, 62.5%) and most patients (n = 24, 75.0%) were already receiving KRT. Median follow-up time was 16.4 months (min 1; max 98.4) and, at the end of the follow-up period, most patients (n = 22, 68.8%) were transplanted. The mortality rate was 6.3% (n = 2). In what concerns to the location of the AVF, radiocephalic was the first choice in 46.9% of the cases (n = 15), accounting for 34.9% of the total AVFs. Brachiocephalic location was used in 34.4% (n = 11) of first fistulas and 6 subsequent accesses, accounting for 39.5% of the total AVFs. The brachiobasilic location was chosen in 18.8% (n = 6) of the first AVFs and 25.6% of the total AVFs. Primary AVF failure occurred in 26.6% (n = 11) cases and, in 4 of these (36.4%), it was possible to successfully use the same location for a second AVF. We observed no statistical association between primary AVF failure dysfunction and gender, age at the construction of the first fistula, AVF location, or dialysis vintage. Platelet-lymphocyte (PLR) and neutrophil-lymphocyte (NLR) ratios also did not differ between groups. Primary and secondary patency rates at one year were, respectively, 62.5% and 93.8%. With respect to total AVF complications, we observed: thrombosis (27.9%), stenosis (18.6%), distal ischemia induced by vascular access (4.7%), and high flow/aneurismatic dilations (18.6%). The presence of complications was statistically related to age (p = 0.046), with more events in older patients at the time of AVF construction. There was no statistical difference between complications’ occurrence and AVF type, sex, gender, PLR, and NLR. Conclusion The utilization of AVF for HD has been growingly recognized as a safe and efficient alternative for the performance of KRT in pediatric patients. Although larger studies are needed, we demonstrate positive results in its usage in a pediatric population, with high primary and secondary patency rates. These outcomes were independent of the AVF location. We also advocate AVF usage in younger patients, as complications were associated with older age. PLR and NLR, which are emerging biomarkers for systemic inflammation, were not associated with AVF dysfunction, aligning with the results of other studies in pediatrics.

#4285 CAUSES OF PEDIATRIC END STAGE KIDNEY DISEASE IN SUDAN

Abstract Background and Aims Sudan is a large Sub-Saharan country with a population of about 48 million people, 41% of them under the age of 15 years and a median age of 18.9 years. To data, no data have been reported on the etiology of end stage kidney disease (ESKD) in children and young adults of less than 18 years of age. Method We conducted a chart review of all ESKD patients below the age of 18 years treated in a tertiary referral center, the Soba University Hospital (SUH) in Khartoum, the capital of Sudan. The research was approved by the SUH ethical committee. We report descriptive statics, including age, sex, ESKD causes, and kidney biopsy frequency. Results We included 885 patients in this analysis, their mean age (SD) was 12 (3.0) years and 57.7% were males. Glomerulonephritis, mostly post-streptococcal glomerulonephritis, was the leading cause of ESKD (36.8%), followed by unknown etiologies (25.3%) and congenital anomalies of kidney and urinary tract (CAKUT; 14.9%). In most patients with glomerulonephritis the diagnosis was based on kidney histology (96.6%). ESKD was attributed to HUS in about 7% of patients. As expected, SLE was more prevalent in females (3:1 ratio) and hereditary nephritis in males (3:1). Conclusion Glomerulonephritis and CAKUT account for over 50% of pediatric ESKD patients in this study from a tertiary referral center in Sudan.

#5114 THE GENOTYPE DISTRIBUTION IN A SINGLE-CENTRE COHORT OF PATIENTS WITH POLYCYSTIC KIDNEY DISEASE

Abstract Background and Aims Polycystic kidney disease (PKD) is one of the most common causes of chronic kidney disease (CKD) and could lead to the end-stage kidney disease (ESKD) both in adulthood and in childhood. In the last few years many genes were discovered to be associated with PKD beyond the classical genes PKD1 and PKD2, that account for the majority of patients with ADPKD (Autosomal Dominant Polycystic Kidney Disease), and PKHD1 and DZIPIL that are responsible of ARPKD (Autosomal Recessive Polycystic Kidney Disease). The new genes are associated with different type of extra-renal involvement and with variable chance to develop CKD or ESKD. Thus, it is important for clinicians to define what mutation is involved in each patient to improve care in a context of precision medicine. We here describe a cohort of 65 consecutive patients followed at our PKD outpatient clinic who underwent the genetic analysis. Method We conducted a retrospective study of patients followed at our PKD outpatient clinic who underwent a genetic test for clinical reasons. We recorded why test was performed, with which modality and what was the result. If the analysis was positive we analyzed if only one or more genes were found mutated and if they belong to new genes described as being involved in PKD or if they are usually described in association with different diseases. Then, we collected demographic and clinical information (age, sex, renal function/presence of absence of ESKD) and the radiological description of kidneys in order to distinguish between typical and atypical PKDs. Results Among the 65 patients of our cohort 28 (43%) were males and 37 (57%) were females, the mean age was 56±18.6 years old; 20% had ESKD. They underwent genetic analysis for different reasons: 31 because of atypical PKD forms, 6 to define a suspected de novo mutation, 14 as a familiar screening and 14 for a better prognosis definition or when they approached the kidney transplant. The genetic analysis was conducted in two main ways: sequencing of PKD1 and PKD2 genes according to modern standards or exome sequencing. The first type of analysis was used for typical ADPKD forms whereas the second type was used when patients displayed an atypical presentation for both cysts distribution and kidney diameter (usually not enlarged kidneys with multiple bilateral cysts) and in two patients in which PKD1 and PKD2 sequencing was negative despite the PKD phenotype. We found that 25% of patients were negative, and the others are almost equally distributed between typical gene mutations and mutations in other genes (40% and 35% respectively) (Figure 1A). Of those with typical mutation, 81% was PKD1 positive and 19% PKD2 positive, a distribution that reflects that of literature (Figure 1B). Of those with other genes positivity: 52% had a DNAJB11 mutation, 17% a mutations in other PKD genes (ALG8, LRP5, PKHD1, COL4A1, IFT140), 32% had a mutation in genes usually associated with CAKUT (congenital anomalies of kidney and urinary tract) or with syndromic or extra-renal diseases (Figure 1C). 18 patients presented with multiple mutations, usually 2, in one case three and in another 4. Of them, the 22% had a double PKD1 mutation, while the others showed mutations in different genes associated with syndromic or extra-renal diseases (Figure 1D). Conclusion Our cohort revealed a wide variety of genetic mutations and also an almost equal distribution between typical genes and atypical/other genes. This could be the result of the small number of patients involved and of the monocentric design of the study (we have a cluster of patients with DNAJB11 belonging to the same small geographical area), but also of the larger inclusion of patients presenting with atypical PKDs. Unfortunately a 25% of patients remained genetically unresolved despite the use of exome sequencing.

Disturbances in Switching between Canonical and Non-Canonical Wnt Signaling Characterize Developing and Postnatal Kidneys of Dab1-/- (yotari) Mice.

This study aims to determine the protein expression patterns of acetylated α-tubulin, inversin, dishevelled-1, Wnt5a/b, and β-catenin in developing (E13.5 and E15.5) and early postnatal (P4 and P14) kidneys of Dab1-/- (yotari) mice, their role in regulating the Wnt signaling pathway, and the possible relation to congenital anomalies of kidney and urinary tract (CAKUT). The analysis of target protein co-expression, observed in the renal vesicles/immature glomeruli, ampullae/collecting ducts, convoluted tubules, metanephric mesenchyme of developing kidneys, but proximal convoluted tubules, distal convoluted tubules and glomeruli of postnatal kidneys, was performed using double immunofluorescence and semi-quantitative methods. The overall expression of acetylated α-tubulin and inversin during normal kidney development increases with higher expression in yotari mice as the kidney acquires mature morphology. An increase in β-catenin and cytosolic DVL-1 levels, indicating a switch from non-canonical to canonical Wnt signaling, is found in the postnatal kidney of yotari mice. In contrast, healthy mouse kidney expresses inversin and Wnt5a/b in the postnatal period, thus activating non-canonical Wnt signaling. Target protein expression patterns in kidney development and the early postnatal period observed in this study could indicate that switching between canonical and non-canonical Wnt signaling is crucial for normal nephrogenesis, while the defective Dab1 gene product in yotari mice may promote CAKUT due to interfering with this process.

Predictive factors of advanced chronic kidney disease in children with congenital anomalies of kidney and urinary tract

Background Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease (CKD) in children. Delayed diagnosis of CAKUT due to lack of universal screening (such as prenatal ultrasound screening or postnatal ultrasound screening in neonates with risk of CAKUT) has led to more cases of advanced CKD in children. CKD has high morbidity and mortality, and early detection is required to prevent the progression of CKD.&#x0D; Objective To determine the factors that predict the development of advanced CKD in children with CAKUT.&#x0D; Methods This retrospective cohort study included children with CAKUT at Dr. Sardjito Hospital, Yogyakarta, Indonesia from January 2016 to February 2021. Patients who were diagnosed with CAKUT were followed up to 5 years or until the onset of advanced CKD. Advanced CKD was defined as a decreased estimated glomerular filtration rate (eGFR) of less than 30mL/min/1.73m2 based on the revised Schwartz formula. CKD progression-free survival was determined with Kaplan-Meier and Cox regression analyses.&#x0D; Results Among 62 subjects with CAKUT, 7 (11.3%) subjects progressed to advanced CKD. The mean time of advanced CKD progression was 52.2 (95%CI 46.9 to 57.5) months. The overall incidence rate was 22 per 1,000 person-years. Based on Kaplan-Meier analysis, children with eGFR &lt;60 mL/min/1.73m2 at the time of diagnosis had more rapid progression to advanced CKD than patients with eGFR ?60 mL/min/1.73m2 [40.2 (95%CI 33.4 to 46.6) months vs. 58.2 95%CI 46.9 to 57.5) months; P=0.02, respectively].&#x0D; Conclusion Reduced eGFR at the time of diagnosis showed rapid progression to advanced CKD.

Subclinical C1q Nephropathy Combined with Possible Donor-Derived IgA Deposition in a 1-Year Kidney Allograft Biopsy: A Case Report

Few previous studies have reported immune-complex nephropathy that has not been classified as a specific phenotype in kidney allografts. We report a case of a de novo subclinical "full-house" pattern of deposition in a pediatric transplantation recipient with possible donor-derived IgA deposition. A five-year-old boy underwent living kidney transplantation due to congenital kidney and urinary tract anomalies. A one-hour implantation biopsy revealed IgA deposition. A four-month protocol biopsy finding showed less intense IgA deposition, in contrast with the one-hour biopsy, and trace para-mesangial deposits. A one-year protocol biopsy demonstrated a full-house deposition pattern and massive electron-dense deposits with minor glomerular changes. At the time of the one-year biopsy, kidney function was stable, with no urinalysis abnormalities. No evidence of systemic lupus erythematosus was observed in clinical and serologic examinations. Mesangial IgG, IgM, C3, and C1q deposition was codominant, and IgA deposition was weaker. We diagnosed this case as C1q nephropathy combined with remaining donor-derived IgA deposition. Few studies have reported C1q nephropathy in kidney allograft; further accumulation of cases is required. To distinguish between donor-derived and de novo glomerular lesions, it is important to assess the serial histologic findings of immunofluorescence and electron microscopy. Here, we report a rare case of subclinical C1q nephropathy with possible donor-derived IgA nephropathy.

MP53-03 UROLOGIC RISK FACTORS FOR URINARY TRACT INFECTION AND ALLOGRAFT FAILURE IN PEDIATRIC RENAL TRANSPLANTATION

You have accessJournal of UrologyCME1 Apr 2023MP53-03 UROLOGIC RISK FACTORS FOR URINARY TRACT INFECTION AND ALLOGRAFT FAILURE IN PEDIATRIC RENAL TRANSPLANTATION Vinicius Seidel, Matthew Buell, Kai Wen Cheng, Cayde Ritchie, Adam Fisher, David Chamberlin, and Joshua Chamberlin Vinicius SeidelVinicius Seidel More articles by this author , Matthew BuellMatthew Buell More articles by this author , Kai Wen ChengKai Wen Cheng More articles by this author , Cayde RitchieCayde Ritchie More articles by this author , Adam FisherAdam Fisher More articles by this author , David ChamberlinDavid Chamberlin More articles by this author , and Joshua ChamberlinJoshua Chamberlin More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000003301.03AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Urinary tract infection (UTI) causes morbidity in children with end stage renal disease (ESRD) and may lead to allograft failure. Appropriate urologic evaluation is important before and after renal transplantation. The purpose of this study is to identify risk factors for UTI and allograft failure in children with ESRD. METHODS: A retrospective review of all pediatric renal transplant patients at a single transplant center from 2013 to 2022 was performed. Inclusion criteria were patients less than 18 years of age with ESRD who underwent their first renal transplantation. Patients with less than 6 months follow-up were excluded. The primary endpoints were UTI occurrence and allograft failure. Allograft failure was defined as rejection with return to dialysis. Statistical comparisons were made using the Chi Square test and the Wilcoxon signed rank test. RESULTS: 79 children underwent renal transplantation with a median follow-up time of 56 months (6-112 months). Etiologies for renal failure were identified as renal in 60 (76%) patients and bladder in 19 (24%) patients. Renal failure in patients with congenital anomaly of kidney and urinary tract (CAKUT) was seen in 33% of renal etiologies and 100% of bladder etiologies. Overall, the UTI rate was lower pre-transplant (8%) compared to post-transplant (28%) (p=0.002). Pre-transplant bladder etiology for renal failure had a higher UTI rate when compared to the renal etiology (26% vs 2%, p=0.002). Post-transplant there was no difference in UTI rate between bladder etiology and renal etiology (37% vs 25%, p=0.32). 27% of patients had pre-transplant native kidney vesicoureteral reflux (VUR) and 11% had transplant kidney VUR. Children with native kidney VUR had a higher UTI rate pre-transplant (48% vs. 21%, p<0.05). Children with transplant kidney VUR had a higher UTI rate than those without transplant VUR (67% vs. 23%, p<0.05). Patients with poor bladder compliance and capacity on urodynamics when medically and surgically optimized, did not have increased post-transplant UTI rates. 14 (17.7%) patients developed allograft rejection. Etiology and onset time of initial renal failure, number of UTI, CAKUT, and VUR were not associated with allograft rejection. CONCLUSIONS: Pediatric ESRD patients with pre-transplant native kidney VUR and renal transplant VUR are at increased risk for UTI and should be treated. Unsafe bladders when optimized may safely undergo transplantation. Renal allograft failure was not associated with etiology, onset time of initial renal failure, number of UTI, CAKUT, and VUR. Source of Funding: None © 2023 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 209Issue Supplement 4April 2023Page: e712 Advertisement Copyright & Permissions© 2023 by American Urological Association Education and Research, Inc.MetricsAuthor Information Vinicius Seidel More articles by this author Matthew Buell More articles by this author Kai Wen Cheng More articles by this author Cayde Ritchie More articles by this author Adam Fisher More articles by this author David Chamberlin More articles by this author Joshua Chamberlin More articles by this author Expand All Advertisement PDF downloadLoading ...

A decrease in the incidence of Shiga toxin-related hemolytic uremic syndrome as a cause of kidney transplantation at an argentine referral center.

In Argentina, Hemolytic uremic syndrome caused by Shiga toxin-producing Escherichia coli (STEC HUS), is the main cause of acute kidney injury and the second cause of end-stage renal disease (ESRD) in children. In recent decades, strategies have been implemented to reduce progression to ESRD, but it is not known whether the cumulative incidence of HUS requiring kidney transplantation (KTx) has decreased. We aimed to determine whether the cumulative incidence of STEC HUS in children undergoing KTx decreased and compared outcomes of HUS-related KTx vs. those related to other etiologies. All patients who underwent KTx at our institution were evaluated. The cohort was divided into quintiles (Q), and we compared the cumulative incidence of HUS-related KTx vs KTx due to other etiologies. A total of 1000 consecutive KTx were included. The cumulative incidence of HUS-related KTx was 11%. HUS was the second cause of KTx in Q1: 17% (1988-1995); Q2: 13.5% (1996-2003); Q3: 11.5% (2004-2009) and third cause in Q4: 10% (2010-2015) and Q5: 3% (2016-2021). The cumulative incidence of HUS-related KTx decreased in Q4 and Q5 compared to Q1, Q2, and Q3 and the decline was even steeper when comparing Q4 to Q5 (p:0.019). There was no difference in graft survival in patients with HUS vs. congenital anomalies of kidney and urinary tract (CAKUT) but better than in those with focal segmental glomerulosclerosis (FSGS). In this cohort, the cumulative incidence of HUS-related KTx decreased, which may have been due to the implementation of nephroprotective strategies.

Early-in-Life Serum Aldosterone Levels Could Predict Surgery in Patients with Obstructive Congenital Anomalies of the Kidney and Urinary Tract: A Pilot Study.

The aim of the study was to evaluate whether serum aldosterone levels or plasmatic renin activity (PRA) measured early in life (1-3 months) could predict a future surgical intervention for obstructive congenital anomalies of kidney and urinary tract (CAKUT). Twenty babies aged 1-3 months of life with suspected obstructive CAKUT were prospectively enrolled. The patients underwent a 2-year follow-up and were classified as patients needing or not needing surgery. In all of the enrolled patients, PRA and serum aldosterone levels were measured at 1-3 months of life and were evaluated as predictors of surgery by receiver-operating characteristic (ROC) curve analysis. Patients undergoing surgery during follow-up showed significantly higher levels of aldosterone at 1-3 months of life compared to those who did not require surgery (p = 0.006). The ROC curve analysis of the aldosterone for obstructive CAKUT needing surgery showed an area under the ROC curve of 0.88 (95%CI = 0.71-0.95; p = 0.001). The aldosterone cut-off of 100 ng/dL presented 100% sensitivity and 64.3% specificity and predicted surgery in 100% of cases. The PRA at 1-3 months of life was not a predictor of surgery. In conclusion, serum aldosterone levels at 1-3 months could predict the need for surgery during obstructive CAKUT follow-up.

CAKUT: A Pediatric and Evolutionary Perspective on the Leading Cause of CKD in Childhood

The global prevalence of chronic kidney disease (CKD) is increasing rapidly, due to increasing environmental stressors through the life cycle. Congenital anomalies of kidney and urinary tract (CAKUT) account for most CKD in children, with a spectrum that can lead to kidney failure from early postnatal to late adult life. A stressed fetal environment can impair nephrogenesis, now recognized as a significant risk factor for the development of adult CKD. Congenital urinary tract obstruction is the leading cause of CKD due to CAKUT and can itself impair nephrogenesis as well as contribute to progressive nephron injury. Early diagnosis by ultrasonography in fetal life by an obstetrician/perinatologist can provide important information for guiding prognosis and future management. This review focuses on the critical role played by the pediatrician in providing timely evaluation and management of the patient from the moment of birth to the transfer to adult care. In addition to genetic factors, vulnerability of the kidney to CKD is a consequence of evolved modulation of nephron number in response to maternal signaling as well as to susceptibility of the nephron to hypoxic and oxidative injury. Future advances in the management of CAKUT will depend on improved biomarkers and imaging techniques.

Renal-hepatic-pancreatic dysplasia type 2: Perinatal lethal condition or a multisystemic disorder with variable expressivity.

Renal-hepatic-pancreatic dysplasia type 2 (RHPD2) is a rare condition that has been described in the literature disproportionately in perinatal losses. The main features of liver and kidney involvement are well described, with cardiac malformations and cardiomyopathy adding additional variation to the phenotype. Many patients reported are within larger cohorts of congenital anomalies of kidney and urinary tract (CAKUT) or liver failure, and with minimal phenotypic and clinical course data. An independent series of phenotypes and prognosis was aggregated from the literature. In this literature review, we describe an additional patient with RHPD2, provide a clinical update on the oldest known living patient, and report the cumulative phenotypes from the existing published patients. With now examining the 17 known patients in the literature, 13 died within the perinatal period-pregnancy to one year of life. Of the four cases living past the first year of life, one case died at 5 years secondary to renal failure, the other at 30 months secondary to liver and kidney failure. Two are currently alive and well at one year and 13 years. Two cases have had transplantation with one resulting in long-term survival. These patients serve to expand the existing phenotype of RHPD2 as a perinatal lethal condition into a pediatric disorder with variable expressivity. Additionally, we introduce the consideration of transplantation and outcomes within this cohort and future patients.

Prevalence of and risk factors for chronic kidney disease in ten metropolitan areas of China: a cross-sectional study using three kidney damage markers

Introduction To estimate the up-to-date prevalence of chronic kidney disease among the health check-up population in economically developed areas of China using estimated glomerular filtration rate, urinary albumin creatinine ratio, and kidney ultrasound. Methods Healthcare data from 38,093 subjects in 10 megalopolises of China who had an annual health check-up in 2021 were used. The overall and stratified prevalence of chronic kidney disease by sex, age, region and comorbidity group was reported. The association between chronic kidney disease and covariates of demographics, and comorbidities were analyzed in the multivariable-adjusted logistic regression model. Results A total of 3837 CKD cases were detected meeting any of the three CKD diagnostic criteria, with a crude prevalence of 10.1% in the study population. Using one criterion of decreased glomerular filtration rate, albuminuria and kidney structural abnormalities alone detected 204 (5.3%), 3289 (85.7%) and 563 (14.7%) cases, respectively. The addition of kidney ultrasound detected 427 (11.1%) structural abnormality cases without decreased GFR and albuminuria. The most common abnormalities were renal masses, hydronephrosis due to obstruction and congenital anomalies of kidney and urinary tract. Female, older age, low city-tier, hypertension, diabetes, obesity, hypertriglyceridemia as well as early disease stages such as pre-hypertension, impaired fasting glucose and overweight were significantly associated with chronic kidney disease. Conclusion Kidney ultrasound helps to amplify the detection of CKD patients, which is a supplement to kidney function and urine protein.

An unexpected case of neonatal compartment syndrome associated with congenital anomalies of kidney and urinary tract

Abstract Objectives Neonatal compartment syndrome (NCS) occurs when increased pressure within the fasciocutaneous compartment decreases capillary perfusion, causing irreversible tissue damage from ischemia. NCS is a rare condition that requires prompt diagnosis and treatment. Diagnosing NCS is highly dependent on the examination, which can be difficult in newborns. Prompt recognition provides the best chance for good outcomes. Case presentation We present a case of NCS diagnosed and treated based on physical examination findings. Fetal ultrasonography showed bladder distension, bilateral hydroceles, urethra dilation, and abdominal urinary ascites concerning for lower urinary tract obstruction and possible bladder rupture. At 1 h after birth, examination of the infant’s left upper extremity showed no spontaneous movement, the hand and forearm appeared dusky, and the hand had a large blister with desquamation. No pulse distal to the antecubital fossa was detected via Doppler ultrasonography. The infant was diagnosed with NCS and underwent urgent fasciotomy. The clinical appearance and perfusion of the left upper extremity gradually improved. At four months of age, the wounds were healed and the patient had full passive range of motion of the left upper extremity. Recovery of active motion is ongoing. Conclusions The presence of blistering and desquamation should provoke suspicion for NCS. Once NCS is diagnosed, prompt intervention is necessary to reduce the risk of poor functional outcomes. This case highlights the need for increased awareness of the risk developing compartment syndrome in utero as part of the rare sequalae in infants with congenital anomalies of kidney and urinary tract.

Quantification of the TGF- [formula omitted]/SMAD fibrosis pathway in bladder wall samples from children with congenital lower urinary tract anomalies

Replacement of detrusor smooth muscle (SM) with connective tissue (CT) in the bladder wall has functional consequences to lower urinary tract function, namely changes to the filling compliance and its contractile performance. In children with congenital anomalies such tissue remodelling may underlie the poor prognosis that is characteristic of a significant proportion of these patients. We have quantified the extent of CT deposition in bladder tissue samples from four age-matched (24–72 months) patient groups, namely: normally-functioning (control) bladders; bladder exstrophy, neurogenic bladders (NGB) and posterior urethral valves (PUV). In addition, using multiplex labelling we have also quantified, in neighbouring sections, expression of TGF-β, a downstream transcription factor SMAD2, connexin-43, as well as DAPI labelling of nuclear material, separately in the SM and CT regions of the detrusor layer. TGF-β receptor (TGF-βR) and Cx43 labelling were greater in SM regions of exstrophy and NGB (but not PUV) tissues when compared to control, were but unchanged in CT regions. SMAD2 labelling was similar in all groups in both SM and CT regions, with minor increases in exstrophy, NGB and PUV SM regions and small reductions in exstrophy and NGB CT regions. DAPI staining was less in CT compared with SM regions but was unchanged between patient groups. Overall, the TGF-β pathway shows variability of expression in congenital bladder anomalies, compared with control tissue, that at this period of post-natal development is greater in the extant SM layer. Antifibrotic strategies that target this pathway offer an approach to minimise fibrotic development.

The Importance of a Healthy Lifestyle in Patients with Congenital Anomalies of Kidney and Urinary Tract.

The Importance of a Healthy Lifestyle in Patients with Congenital Anomalies of Kidney and Urinary Tract.

Genetic Susceptibility to Chronic Kidney Disease: Links, Risks and Management.

Chronic kidney disease (CKD) is associated with significant morbidity and mortality worldwide. In recent years, our understanding of genetic causes of CKD has expanded significantly with several renal conditions having been identified. This review discusses the current landscape of genetic kidney disease and their potential treatment options. This review will focus on cystic kidney disease, glomerular disease with genetic associations, congenital anomalies of kidneys and urinary tract (CAKUT), autosomal dominant-tubulointerstitial kidney disease (ADTKD), inherited nephrolithiasis and nephrocalcinosis.

Prenatal diagnosis and molecular cytogenetic analyses of a paternal inherited deletion of 1q23.3 encompassing PBX1 gene

BackgroundPatients with deletions involving the long arm of chromosome 1 are rare. The PBX1 gene is located on chromosome 1q23.3. PBX1 encodes a transcription factor which promotes protein–protein interaction and plays a crucial role in several developmental processes. PBX1 haploinsufficiency had been reported to lead syndromic congenital anomalies of kidney and urinary tract (CAKUT) in humans.Case presentationIn this research, a 24-year-old woman (gravida 1, para 0) underwent amniocentesis at 22 weeks’ gestation because of a horseshoe kidney of the fetus on prenatal ultrasound.ResultsChromosomal microarray analysis (CMA) from this family revealed a 1.14 Mb paternal inherited deletion on chromosome 1q23.3, spanning from position 163,620,000 to 164,760,000 (hg19). Trio whole-exome sequencing (WES) showed heterozygous deletions in exons 1–2 of the PBX1 in fetal and paternal samples. At the 3-year follow-up, the baby did not have an abnormal phenotype except a horseshoe kidney.ConclusionWe provide a detailed description of the phenotype in a family with paternal inherited deletion of 1q23.3 encompassing exons 1–2 of the PBX1 gene. Combination of karyotype analysis, CMA, WES, prenatal ultrasound and genetic counseling is helpful for the prenatal diagnosis of chromosomal microdeletions/microduplications.