Congenital Anomalies Of Urinary Tract Research Articles

Aberrations in FGFR1, FGFR2, and RIP5 Expression in Human Congenital Anomalies of the Kidney and Urinary Tract (CAKUT).

This study aimed to explore the spatio-temporal expression patterns of congenital anomalies of kidney and urinary tract (CAKUT) candidate genes, Fibroblast Growth Factor Receptor 1 (FGFR1), Fibroblast Growth Factor Receptor 2 (FGFR2) and Receptor-Interacting Protein Kinase 5 (RIP5), in human fetal kidney development (CTRL) and kidneys affected with CAKUT. Human fetal kidneys from the 22nd to 41st developmental week (duplex, hypoplastic, dysplastic, and controls) were stained with antibodies and analyzed by epifluorescence microscopy and RT-qPCR. The effect of CAKUT candidate genes on kidney nephrogenesis and function is confirmed by statistically significant variations in the spatio-temporal expression patterns of the investigated markers. The nuclear localization of FGFR1, elevated expression score of FGFR1 mRNA, the increased area percentage of FGFR1-positive cells in the kidney cortex, and the overall decrease in the expression after the peak at the 27th developmental week in dysplastic kidneys (DYS), suggest an altered expression pattern and protein function in response to CAKUT pathophysiology. The RT-qPCR analysis revealed a significantly higher FGFR2 mRNA expression score in the CAKUT kidneys compared to the CTRL. This increase could be due to the repair mechanism involving the downstream mediator, Extracellular Signal-Regulated Kinase 1/2 (ERK1/2). The expression of RIP5 during normal human kidney development was reduced temporarily, due to urine production and increased later since it undertakes additional functions in the maturation of the postnatal kidney and homeostasis, while the expression dynamics in CAKUT-affected kidneys exhibited a decrease in the percentage of RIP5-positive cells during the investigated developmental period. Our findings highlight the importance of FGFR1, FGFR2, and RIP5 as markers in normal and pathological kidney development.

Tekrarlayan İdrar Yolu Enfeksiyonu Olan Çocuklarda Tuvalet Alışkanlıklarının Değerlendirilmesi ve Böbrek Hasarı Gelişmesinde Rol Oynayan Risk Faktörlerinin Araştırılması

Objective: Urinary tract infection is one of the common infections in children. The patients with recurrent infection are at risk for permanent renal damage in later life. In this study, it was aimed to investigate the toilet habits and risk factors for renal scarring in children with recurrent urinary tract infection without congenital anomalies of the kidney and urinary tract.Materials and Methods: Patients between the ages of 6 and 18 with a diagnosis of recurrent urinary tract infection who were toilet trained were included in this study. Data of patients with congenital anomalies of kidney and urinary tract were excluded from the study. The detailed information on the voiding postponement, infrequent voiding, holding maneuvers and renal scarring were obtained from file records.Results: The 208 patients (146 girls, 62 boys) were included in this study. The more than half of the patients (n=132, 63.5%) had a habit voiding postponement, and one third (n=65, 31.3%) had holding maneuver. There was infrequent voiding in 47 (22.6%) patients. Renal scarring was determined in 38 (18.3%) patients. The frequencies of voiding postponement, holding maneuver and infrequent voiding were higher in patients with renal scarring than those of without [30 (78.9%)/102 (60%), p=0.048; 12 (31.6%)/53 (21.2%), p=0.039; 15 (39.5%)/32 (18.8%), p=0.009, respectively]. It was determined a significant positive association between renal scarring and voiding postponement with infrequent voiding [Odds ratio=3.21, p=0.011; Odds ratio=1.46, p=0.021; Odds ratio=3.43, p=0.001, respectively]. Conclusion: Toilets habits should be questioned in routine follow-up program in children with recurrent urinary tract infection. The development of true toilet habits may be useful to prevent the development of renal scarring in children.

Risk factors for childhood chronic kidney disease: a population-based study.

The population-based prevalence and risk factors of childhood chronic kidney disease (CKD) are not well-defined. We ascertained childhood CKD epidemiology and perinatal risk factors, based on a large computerized medical record database that covers most of southern Israel's population. Pre- and post-natal records of 79,374 eligible children (with at least one serum creatinine test) born during 2001-2015 were analyzed. "Ever-CKD" was defined as ≥ 2 estimated glomerular filtration rate (eGFR) values < 60ml/min/1.73 m2 beyond age 2years, more than 3months apart. The last CKD status was determined on March 2019. Of 82 (0.1%) patients with ever-CKD, 35 (42.7%) had their first abnormal eGFR identified already at age 2years. In multiple logistic regression analysis, congenital anomalies of kidney and urinary tract (CAKUT)-related diagnoses, glomerulopathy, maternal oligohydramnios, small for gestational age, prematurity (under 34weeks), post-term delivery, and small for gestational age at birth were significant risk factors for ever-CKD (odds ratio (95% confidence interval): 44.34(26.43-74.39), 64.60(32.42-128.70), 5.54(3.01-10.19), 2.02(1.25-3.28), 4.45(2.13-9.28), 2.96(1.28-6.86 and 2.02(1.25-3.28), respectively). Seventy children with ever-CKD (85.4%) had a depressed eGFR (< 90ml/min/1.73 m2) on the last assessment (current-CKD), yielding a prevalence of 882/million. CKD is more prevalent among children in southern Israel than previously reported, even after excluding those with aborted-CKD. Prenatal conditions increase the risk to develop CKD in childhood. Graphical abstract A higher resolution version of the Graphical abstract is available as Supplementary information.

Whole Exome Sequencing in a Population With Severe Congenital Anomalies of Kidney and Urinary Tract.

Fetal and neonatal interventions (e.g., amnioinfusions, amniotic shunting, and infant dialysis) have increased survival of infants with severe Congenital Anomalies of the Kidney and Urinary Tract (CAKUT), however, outcomes vary dramatically. Our aim was to perform Whole Exome Sequencing (WES) in a unique severe CAKUT population with the goal to identify new variants that will enhance prediction of postnatal outcomes. We performed trio WES on five infants with severe CAKUT (undergoing fetal interventions and/or those who initiated renal replacement therapy (RRT) within 1 month of life) and their parents as well as three singletons. We identified three potential candidate gene variants (NSUN7, MTMR3, CEP162) and validated two variants in known CAKUT genes (GATA3 and FRAS1) showing strong enrichment in this severe phenotype population. Based on our small pilot study of a unique severe CAKUT population, WES appears to be a potential tool to help predict the course of infants with severe CAKUT prenatally.

A study of the 20-year evolution of antimicrobial resistance patterns of pediatric urinary tract infections in a single center.

Febrile urinary tract infections (UTIs) are important bacterial infections in children but increasingly difficult to treat due to antimicrobial resistance. We performed a retrospective analysis of the prevalence of uropathogens in hospitalized children with a febrile UTI between 2000 and 2019 in our university hospital to get more insight into trend and determinants of antimicrobial resistance over time. There were 1010 hospitalizations in children with a median age of 1.1years. Thirty-six percent had an abnormal ultrasound and/or the presence of vesico-ureteral reflux, defined as CAKUT. Escherichia coli was the most prevalent pathogen (76%). However, there was an increasing prevalence towards other gram-negative organisms over time, and these pathogens were more common in children with congenital anomalies of kidney and urinary tract (CAKUT) (OR 4.26 (3.14-5.78), p < 0.001). E. coli strains demonstrated an increase in resistance against amoxicillin clavulanic acid (AMC) over time from 16% (2000-2004) to 36% (2015-2019) with an average increase of 2.0%/year; this was + 1.1%/year for third-generation cephalosporin. Multivariate analysis demonstrated that prior antibiotic use was an additional risk factor for antimicrobial resistance in E. coli. Nevertheless, increasing resistance was also observed in children without reported previous antibiotic treatment (+ 1.9%/year, p = 0.04). Conclusion: We observed a significant pattern of increasing antimicrobial resistance of E. coli within a relatively short period of time, making it increasingly difficult to treat pediatric UTIs. This pattern was also seen in children without underlying risk factors (recent antibiotic treatment or structural urological disease). This is indicative for a larger problem in the general population and an important threat to our current standard of health care. What is Known: •Escherichia coli is the most frequent pathogen in pediatric urinary tract infections. •There is an increasing antimicrobial resistance against commonly used antibiotics in urinary tract infections. What is New: •The first 20-year retrospective, longitudinal study on characteristics of the microorganisms of pediatric urinary tract infections in a single center. •A 1-2% yearly increase in antimicrobial resistance, not only in children with congenital anomalies of the kidneys or recent antibiotic treatment but also in children without risk factors.

Genetic Basis of Congenital Anomalies of Kidney and Urinary Tract

Congenital anomalies of kidney and urinary tract (CAKUT) is a group of abnormalities affecting the kidneys or other structures of the urinary tract that include ureters, urinary bladder and urethra. CAKUT include renal agenesis or hypodysplasia, multicystic dysplastic kidney, ureteropelvic junction obstruction, duplication of the pelvis, ureter, and/or kidney, congenital megaureter, ureterovesical junction obstruction, vesicoureteral reflux and posterior urethral valves. Those results from abnormal development of the urinary system and is present from birth (congenital), although the abnormality may not become apparent until later in life. The clinical spectrum of CAKUT has significant impact on long-term patient survival. We observed that the causes of CAKUT are complex, usually combination of genetic and environmental factors contribute to the developmental abnormalities of kidney and urinary tract in foetus. The genetic factors involved in most cases of CAKUT are unknown; however, syndromic CAKUT is caused by changes in the genes associated with the particular syndrome. Variations in the same genes can also underlie some cases of isolated CAKUT. This review paper aims to discuss genetic basis of CAKUT, i.e., identifying different genes involved in syndromic and non-syndromic CAKUT. Modern genetic testing facilities can provide a precise diagnosis that can help individualize clinical care by screening for specific complications, facilitate medical decision making, and provide better genetic counseling.&#x0D; CBMJ 2022 January: vol. 11 no. 01 P: 69-74

Chronic kidney disease causes and outcomes in children: Perspective from a LMIC setting.

Chronic kidney disease (CKD) constitutes a major public health challenge, with a global prevalence of 15-74.7 cases /million children. Preventing CKD in children, slowing its progression and management of complications are essential, especially in challenged health systems in low middle income countries (LMIC). We conducted a retrospective review to assess the underlying cause and stage of CKD at presentation and clinical outcomes in children and adolescents at the Indus Hospital and Health Network (IHHN) in Karachi, Pakistan. Children 0-16 years with CKD stage 1 and/or higher at presentation were included. Data including demographics, clinical status and lab results at presentation and during follow-up, surgical intervention if any, kidney function at last visit and outcome at last follow-up was recorded. A total of 229 children diagnosed with CKD are included in our study. The median age at diagnosis was 10 years with male: female ratio of 1.8:1. Only 5% children presented in stage 1 CKD. The rate of adverse outcomes is 4.5 times higher in children with CKD stage 3-5 compared to early CKD. Congenital anomaly of kidney and urinary tract (CAKUT) was the underlying cause in 49% children. Children with glomerular disease had comparatively worse outcome. Proteinuria, hypertension, anemia and bone disease were associated with high morbidity and mortality. The true epidemiology of childhood CKD is unknown in Pakistan. Our cohort showed better CKD outcomes in children diagnosed early with appropriate surgical and medical follow-up. Prompt diagnosis, treatment and prevention of progression can be life-saving in our setting. CKD registry data can inform policy changes that can prevent poor outcomes.

Pattern and short-term outcome of pediatric kidney disease at national referral hospital in Bhutan: an observational study

Introduction: The epidemiology of kidney diseases in children can vary widely across geographic regions. The main purpose of this study was to determine the pattern and short-term outcome of kidney disease among children hospitalized at the national referral hospital in Bhutan. Methods: All admitted children aged one month to 12 years with kidney disease, from January to December 2018, were included in the study. Diagnostic criteria were applied to all the patients on admission to determine study eligibility and subsequent demographic and clinical data were collected using a structured interviewer administered pro forma. Results: A total of 128 (7.8%) children met diagnostic criteria for kidney disease among 1648 hospitalized children during the study period. The median age at presentation was 2.5 years (interquartile range 0 to 8). The commonest disease was acute kidney injury (48, 37.5%) followed by acute glomerulonephritis (37, 28.9%), urinary tract infection (37, 28.9%), congenital anomalies of kidney and urinary tract (11, 8.6%) and nephrotic syndrome (11, 8.6%). Median duration of hospital stay was 8 days (IQR 4 to 14.8). Four (3.1%) patients were referred to India for specialist care, 5 (3.9%) underwent dialysis and 28 (21.9%) died. Of the 28 patients who died, 26 (92.9%) had acute kidney injury and 2 (7.1%) had chronic kidney disease. Conclusions: Pediatric kidney diseases comprise a significant proportion of disease burden at the national referral hospital. Education of primary healthcare providers about the epidemiologic burden of pediatric kidney diseases is needed to reduce kidney-related morbidity and mortality.

Evaluation of renal function after pyeloplasty determined by 99mTc DTPA renogram

Background: Hydronephrosis (HDN) due to pelviureteric junction (PUJ) obstruction is a common congenital anomaly of urinary tract which is generally treated by pyeloplasty. But the extent of functional recovery is still debated. Considering the existing controversies, this study was designed to evaluate the changes of renal function after pyeloplasty measured by 99mTc-DTPA renography.&#x0D; Methods: This study was done in the department of urology, National Institute of Kidney Diseases and Urology (NIKDU) and Bangladesh Institute of Research and Rehabilitation in Diabetes, Endocrine and Metabolic Disorders (BIRDEM) General Hospital from July 2014 to December 2020. Sixty patients were included in this study and underwent Anderson-Hynes (A-H) dismembered pyeloplasty for PUJ obstruction. All patients were evaluated with diuretic 99mTc-DTPA renogoam before and at 3 and 6 months after pyeloplasty. Improvement of renal function was evaluated by comparing preoperative and postoperative differential renal function (DRF) and glomerular filtration rate (GFR).&#x0D; Results: Sixty patients (34 male and 26 female) with unilateral HDN due to PUJ obstruction were included in this study with mean age of 15.6 years (ranged from 3 – 38 years). Out of 60 patients, 56.7% had left sided HDN and 43.3% had right sided HDN. The mean preoperative DRF was 16.72 ± 8.35% at baseline which increased to 26.03 ± 7.08% at the end of 3rd month and 28.15 ± 5.84% at the end of 6th month. The mean preoperative GFR was 14.29 ± 6.73 ml/min/1.73 m2 at baseline which increased to 24.13 ± 5.31ml/min/1.73 m2 at the end of 3rd month and 27.38 ± 4.78 ml/min/1.73 m2 at the end of 6th month.&#x0D; Conclusion: The result demonstrates that, after pyeloplasty renal function improves. Highest recovery of renal function noted in patients with poor pre-operative DRF and GFR.&#x0D; BIRDEM Med J 2022; 12(2): 142-146

Cardiovascular risk factors in pediatric kidney transplant recipients

Introduction: Cardiovascular risk factors decrease after kidney transplantation, however cardiovascular disease remains one of the most common causes of death in children and young adults. The authors performed a comprehensive analysis of cardiovascular risk factors before and after kidney transplantation. Methods: Retrospective study, from 2007 to 2017, that included children and adolescents with a minimum of six months follow -up after kidney transplant. Demographic profile, chronic kidney disease characteristics and family and personal cardiovascular risk factors (hypertension, left ventricular hypertrophy, anemia, overweight/obesity, dyslipidemia, hypoalbuminemia and new onset diabetes after transplant) were assessed. Pre - and post -transplant cardiovascular risk factors were compared using the McNemar test. Results: We included 49 patients, with a mean age at the time of transplantation of 9.3 ± 4.2 years. Congenital anomalies of kidney and urinary tract (37.7%) and glomerulopathies (32.7%) were the most frequent causes of stage 5 chronic kidney disease. Transplantation was preemptive in five patients. Living donor transplant was performed in six cases. The immunosuppression regimen was identical in all patients and there were nine acute rejection episodes. The most frequent pre -transplant cardiovascular risk factors were dyslipidemia (90.3%), hypertension (70.8%) and anemia (61.9%). After transplant there was a decrease of all cardiovascular risk factors except for overweight/obesity. Although a better control of hypertension was granted, the decrease was not significant. Hypoalbuminemia and dyslipidemia decreased from the 6 -month evaluation on (p&lt;0.001) and left ventricular hypertrophy and anemia from the second year on (p&lt;0.05). Conclusions: We aimed to evaluate the evolution of cardiovascular risk factors in pediatric patients before and after kidney transplant. In our cohort there was a decrease in all studied cardiovascular risk factors after kidney transplant, except for overweight/obesity. This could mean that chronic kidney disease related factors decrease with time, but traditional risk factors may persist or increase, and need active prevention.

Congenital Anomalies of Kidney and Urinary Tract (CAKUT)-Literature Review

Kidneys as well as urinary tracts are the major excretory organs of the human body and removes waste products of protein metabolism.They also remove surplus water and salts from the blood.Kidneys as well as urinary tracts also important for survival as they are crucial for preserving the fluid-electrolyte balance of the body tissue fluids.The inaccuracies in the embryogenesis of the outflow tractsalong with thekidneys are vulnerable to the environmental endargements and disturb the development throughout gestation.Mutations in the patient with CAKUT are responsible for the chronic renal diseases in the 1st three decades of life.Fetus dose not survive in severe cases of CAKUT as a result of non formation of kidneys and outflow tract, but in less severe cases there are more chances to survive and may identified in adulthood.Though the critical cases of CAKUT are infrequent, marginal nephron number is considerablyfrequent disorder exerting its effect on renal functions with increasing age.&#x0D; Congenital anomalies of kidney and urinary tract have a wide range ofabnormalities inclusive offatalagenesis of both the kidneys andasymptomatic ectopic kidneys.Hence patient with the solitary kidney should follow-up regularly for better and close monitoring.&#x0D; The clinical presentation of CAKUT along with its long term outcomes and epidemiology is covered in this review.With a comphrehensive knowledge of the roots of CAKUT and marginal nephron numbers, identification of preventive treatment and establishment of clinical guidelines for the patients can be begun.Comphrehension of relevant endangerments and changes in the epidemiological trends especially modified maternal factors and delivery services is vital for prompt detection and prediction of prognosis in the course of pregnancy due to subsequent morbidity and mortality as a result of the presence of CAKUT.

Ventricular Septal defect (VSD) as an extra renal manifestation in Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Syndrome: A rare Case report

Ventricular Septal defect (VSD) as an extra renal manifestation in Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Syndrome: A rare Case report

Renal Hypoplasia: Case Literature Review

Introduction: Congenital anomalies of kidney and urinary tract (CAKUT) presents a broad range of disorders including abnormal renal parenchymal development, disrupted parenchymal development, abnormalities of lower urinary tract, urinary collecting system. The knowledge of these anomalies will help the clinicians and surgeons during the procedures of kidney. The purpose of this article is to present one of the cases of renal hypoplasia and the review that highlights renal hypoplasia cases. Methodology: A vertical incision has been made in midline from xiphoid process to pubic symphysis encircling the umbilicus, another incision from pubic symphysis laterally up to the anterior superior iliac tubercle along the iliac crest to expose the abdominal cavity. Details of the position suprarenal gland and the upper poles of the kidneys and external appearance of kidneys in situ were noted. The arrangement of the attached structures such as the hilum with structures passing through, ureter, bladder, abdominal aorta and the inferior vena cava were also noted and recorded. Observation and Result: The size of the left kidney was found small in comparison to right kidney. Coronal section of left kidney also showed a smaller number of renal pyramids, major calyces and minor calyces. Conclusion: The knowledge of anatomical variations of urinary system has a significant role for clinicians and surgeons for diagnosing diseases including congenital anomalies, radiological interpretations, procedures, surgical interventions and management of clinical conditions. KEY WORDS: Renal Hypoplasia, Congenital Anomalies Of Kidney And Ureter, Cadavers, Dissection.

A PICTORIAL REVIEW OF IMAGING FEATURES OF VARIOUS CONGENITAL URINARY TRACT ANOMALIES BY MDCT UROGRAPHY

BACKGROUND: Congenital anomalies of the kidney and urinary tract can be the cause of adult-onset renal failure that currently have no specied cause, knowing the imaging ndings permit optimal patient management and thorough workup (1). CTurography provide good anatomic detail and diagnostic specicity in evaluating congenital anomalies of urinary tract (2). OBJECTIVE: To illustrate imaging features of various types congenital anomalies of the urinary tract by MDCTUrography pictorially. MATERIALS AND METHODS: Aprospective study done in the department of Radiology and Imaging, Vinayaka Mission's Medical College and Hospital, Karaikal. Patients from adult age groups including men and women who came for MDCT Urography study for clinical work up of various clinical symptoms and diseases with imaging features of congenital anomalies are included in study and evaluated. RESULTS: A total of 6 patients with imaging features of congenital urinary tract anomalies noted and evaluated. Horseshoe kidney has been observed in two patients, duplex collecting system was seen in ve patients, bid collecting system in two patients, ureterocele in one patient. CONCLUSION: Despite advances in medical care and antenatal imaging many congenital anomalies of urinary tract still remain an important health problem many anomalies are undetected until patients present with various urinary tract related symptoms or evaluated other medical conditions. This review highlights the most common congenital anomalies of urinary tract that are encountered during MDCT urography examination.

Correlation of Urethral Ratio and Bladder Wall Thickness with Cystoscopic Findings in Posterior Urethral Valve Patients to Assess Residual Valves.

Introduction:Posterior urethral valve (PUV) is life threatening congenital anomaly of urinary tract. Aim of the study was to correlate urethral ratio (UR) and bladder wall thickness (BWT) with cystoscopic findings in PUV patients to assess residual valves and to validate UR as a diagnostic tool for residual valves. It also aimed to assess the utility of bladder wall thickness in diagnosis of residual valves.Materials and Methods:A total of 31 patients were included in the prospective study done from 2017 to 2019. Calculation of UR was done in oblique VCUG films by dividing maximum posterior and anterior urethral diameter without the catheter insitu. Measurement of BWT was done at dome and bladder neck at full distension with feeding tube insitu and was done at same volume in follow up. The procedure was repeated at 3 months follow up. The findings were compared with cystoscopic findings for the status of residual valves as gold standard. Each patient served as control for self in the study.Results:Median age of presentation was 1 years with range of 1day to 10 years. The most common complains at the time of presentation in our study was straining (35.48%) followed by antenatally diagnosed patients (25.81%) and recurrent UTI (19.36%). Pre fulguration median UR was 2.45. Post Fulguration median UR was 1.20. It showed a statistically significant reduction (p < 0.001) after fulguration. Pre fulguration median BWT was 4 mm. Post fulguration median BWT was 2.5 mm. BWT showed a statistically significant reduction (p < 0.001) after fulguration as well. ROC curve was plotted for UR and BWT. BWT more than 1.95 mm (sensitivity-80%) and UR more than 1.2 (sensitivity-70%) indicates residual valves.Conclusion:A step ladder approach including BWT, UR and check cystoscopy can serve as a new diagnostic algorithm for the assessment of residual valves thereby avoiding extra radiation and general anesthesia exposure.

Duplex Collecting System of Right Kidney in 3-Year-Old Child: A Case Report

<i>Background: </i>The duplex collecting system is one of the congenital anomalies of kidney and urinary tract. It occurs in 0.2-2% of the general population. It can remain asymptomatic or become symptomatic. Affected children may present with urinary tract infections. Treatment options include pharmacological and surgical approaches. <i>Case:</i> We reported a 3-year-old male child, who was referred to Sanglah Hospital with recurrent fever. From the physical examination, we found positive costovertebral angle tenderness. Urinalysis showed high leukocyte sediments (1655/field of view), positive urine culture (<i>Enterococcus gallinarum</i>), and decreased glomerular filtration rate (68.75 ml/minute/1.73 m²). Ultrasonography of the right kidney showed two pelvicalyceal systems with severe hydronephrosis of upper moiety. The intravenous pyelography showed the drooping lily sign in the right kidney. We diagnosed the patient with a complicated urinary tract infection caused by <i>Enterococcus gallinarum</i>, duplex collecting system of right kidney, chronic kidney disease stage II. Antibiotics were administered due to complicated UTI. Open heminephrectomy was done. The patient was discharged in stable condition. <i>Conclusion: </i>The duplex collecting system may cause recurrent urinary tract infection. It can be a risk factor for renal scarring and cause chronic kidney disease. Comprehensive diagnostic workup and multidisciplinary management are needed to promote a good clinical outcome.

Evolution of congenital anomalies of urinary tract in children with and without solitary kidney.

We hypothesized that children with congenital solitary functioning kidney (CSFK) present forms of congenital urinary tract anomalies (CUTA) with higher chance of spontaneous resolution compared with patients with two kidneys. We retrospectively selected 75 consecutive children with CUTA of the CSFK and 75 matched patients with unilateral CUTA but without CSFK (controls) with prenatal suspicion of unilateral CUTA and early evaluation. We compared the spontaneous CUTA resolution and the prevalence of kidney injury between groups at last follow-up. Patients and controls were clustered under the categories of "severe" and "non-severe" CUTA. The mean age at first and last follow-up was 0.17 ± 0.07 and 8.5 ± 5.2 years. Compared with controls, patients with CSFK had lower prevalence of severe CUTA at first evaluation; lower prevalence of febrile urinary tract infections, need of surgical correction, and higher rate of spontaneous CUTA resolution during follow-up; and a similar prevalence of mild kidney injury at last follow-up. CSFK compared with controls presented higher cumulative proportion of spontaneous resolution from severe CUTA (100 vs 41.8%; p &lt; 0.001) and from the single CUTA sub-categories (severe vesicoureteral reflux, non-obstructive hydronephrosis, and megaureter). CSFK patients had lower prevalence of severe forms and better outcomes of their CUTA compared with controls. One-third of patients with congenital solitary functioning kidney (CSFK) present congenital urinary tract anomalies (CUTA) and manifest poorer outcomes compared with CSFK without CUTA. CSFK patients had lower prevalence of severe forms and better outcomes of their CUTA in spite of similar prevalence of kidney injury compared with controls. This adds evidence about disturbed nephrogenesis in CSFK patients and emboldens conservative management of many of their non-obstructive CUTA.

Genetic Testing and Biomarkers as Predictive Tools for Congenital Anomalies of Kidney and Urinary Tract (CAKUT)

Genetic Testing and Biomarkers as Predictive Tools for Congenital Anomalies of Kidney and Urinary Tract (CAKUT)

Influence of genetic polymorphism in renin-angiotensin system-candidate genes on urinary trefoil family factor 3 levels in children with congenital anomalies of kidney and urinary tract.

This cross-sectional study aimed to determine the influence of genetic polymorphism in two renin-angiotensin system (RAS)-candidate genes on urinary trefoil family factor 3 (TFF3) levels in children with congenital anomalies of kidney and urinary tract (CAKUT). The study included fifty children with CAKUT (PUV, VUR, and PUJO) and twenty age-matched controls. Urinary TFF3 levels were measured by enzyme-linked immunosorbent assay. Detection of genetic polymorphisms in two genes, i.e., I/D polymorphism (SNP at rs4340) in angiotensin-converting enzyme (ACE) and A/T polymorphism in the angiotensin II receptor type-2 (AT2R) due to point mutation at rs3736556 was performed by polymerase chain reaction. Progressive deterioration in kidney function was defined as fall in GFR to < 60 ml/min/1.73 m2 and/or progressive scarring. In our cohort, the genotypic distribution of patients and controls showed no difference. Progressive functional deterioration was significantly associated with the presence of D allele (p = 0.0004), A allele (p = 0.005), and both (p < 0.0001) in patients. Significantly raised TFF3 levels were detected in the urine of children having D allele (D/D > I/D > I/I; p < 0.0001) and A allele (A/A > A/T > TT; p < 0.0001). Also, children with both D/D and A/A allelic genotypes had significantly elevated urinary TFF3 compared to those having either of them. The presence of D allele and/or A allele is significantly associated with progressive functional deterioration and elevated urinary TFF3 levels. These findings support the role of angiotensin II-AT2R-NF-κB interaction in progressive deterioration of kidney function and subsequent TFF3 expression in CAKUT.

Antibiotic Resistance Patterns of Uropathogens Causing Urinary Tract Infections in Children with Congenital Anomalies of Kidney and Urinary Tract.

Background: Urinary tract infections (UTI) are common in children worldwide. Congenital anomalies of kidney and urinary tract (CAKUT) increase the risk of UTI and consequently antibiotic resistance. Antibiotic resistance represents an important public health issue worldwide. We aimed to evaluate the local trend in terms of bacterial uropathogen resistance in the western part of Romania in children with CAKUT and UTI. Methods: 252 children with CAKUT were admitted to our hospital over a five-year period. Of them, 91 developed at least one UTI episode, with a total number of 260 positive urine cultures. We collected data about age at diagnosis of CAKUT, sex, origin environment, type and side of CAKUT, number of UTIs, type of uropathogen, and uropathogens antibiotic resistance. Results: Distribution of uropathogens was Escherichia coli (38.84%), Klebsiella spp. (21.15%), Enterococcus spp. (15.76%), Proteus spp. (8.07%), Pseudomonas spp. (8.07%), Enterobacter spp. (2.3%), other Gram-negative bacteria (2.3%), and other Gram-positive bacteria (3.45%). High antibiotic resistance was detected for ampicillin, amoxicillin, and second-generation cephalosporins. Escherichia coli presented high resistance for cefepime and ceftriaxone. Pseudomonas spp. remained susceptible to amikacin, quinolones, and colistin. Vancomycin, teicoplanin, linezolid, and piperacillin/tazobactam remained effective in treating Gram-positive UTI. Conclusions: High antibiotic resistance was identified for frequently used antibiotics. Lower antibiotic resistance was observed for some broad-spectrum antibiotics. Understanding uropathogens’ antibiotic resistance is important in creating treatment recommendations, based on international guidelines, local resistance patterns, and patient particularities.