Anomalies Of Urinary Tract Research Articles

A Spectrum of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)-Diagnostic Utility of Perinatal Autopsy.

To describe the spectrum of congenital renal anomalies and emphasize the critical role of comprehensive autopsy examination in identifying CAKUT, especially of lower urinary tract malformations correlating with prenatal imaging methods. Retrospective analyses of CAKUT diagnosed at fetal autopsy were analyzed over a 7-y period and correlated with prenatal imaging findings. Among the 255 fetal autopsies, 45 cases were detected with CAKUT. Isolated (27%), syndromic CAKUT (51%), and CAKUT associated with other system anomalies (22%) were found. Hydronephrosis, followed by cystic renal diseases and agenesis were the common renal malformations. The gastrointestinal tract (GIT) was the commonest system associated with CAKUT. Among the syndromic CAKUT, the urorectal septum malformation (URSM) was the most frequent one, followed by VACTER-L, acrorenal syndrome, and OEIS complex. When correlating prenatal USG and autopsy findings, a significant change in final diagnosis was observed in 60% of cases. Extrarenal malformations and syndromic associations of CAKUT predominated over isolated ones. Detection of lower urinary tract anomalies in CAKUT is difficult through antenatal imaging methods if associated with oligohydramnios. In these circumstances, the perinatal autopsy has a significant role in arriving at the final diagnosis which guides the clinician in predicting the recurrence risk and the need for genetic workup.

A Case Report On Prune Belly Syndrome

Eagle-Barrett syndrome’ is the other name for prune belly syndrome. The classical triad of urinary tract anomalies,deficient abdominal musculature, and bilateral cryptorchidism. It is a congenital anomaly of unknown aetiology, most commonlyseen in males. It is seen in one and 30,000 live births.96% of them are males. In this case report, we present a boy child born toA 38-year-old multigravida mother with a previous history of three vaginal deliveries. On examination of the baby, the followingfeatures are to be found-hypotonia, deficiency of abdominal muscle, undescended testis, a palpable bladder and kidney. Radiologicalimaging showed gross hydronephrosis on both sides and big ureter. The baby was diagnosed with Prune Belly syndrome.Ultrasound investigations done during the antenatal period, helps in directing anomalies of the kidney which is to be followed inthe postnatal period. The aim of the writing this case report is to establish the importance of antenatal diagnosis of congenitalmalformations including Eagle-Barrett Syndrome among many others. Prenatal diagnosis of PBS should be considered wheneverthe following ultra- sound anomalies are clearly identified: oligohydramnios, urinary abnormalities (dilatation of the urinary tract,megacystis, bilateral hydroureteronephrosis), and the absence of abdominal musculature. Routine screening during the antenatalperiod with ultrasound helps in detecting anomalies of the kidney at an earlier stage . This help in initiating optimal treatment toavoid the fatal cause of Prune Belly Syndrome

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.

Kidney replacement therapy in neonates: utilization trends and outcomes.

We aimed to assess prevalence and clinical characteristics of newborns receiving kidney replacement therapy (KRT). We used the National Inpatient Sample (NIS) dataset for the years 2000-2017. Newborns treated with peritoneal dialysis (PD), hemodialysis (HD), and continuous KRT (CKRT) were included. Trend analysis using the Cochran-Armitage test was used to assess prevalence over the years. A total of 64,532,552 hospitalized newborns were included. Among the 4281 infants treated with KRT, 2501 (58.4%) were treated with PD, 997 (23.3%) had HD, and 783 (18.3%) used CKRT. Associated diagnoses included congenital kidney anomalies (37.4% vs. 15% vs. 9.5%), urinary tract anomalies (35% vs. 12.5% vs. 6.3%), and congenital heart disease (68% vs. 25.7% vs. 72.3%). Median length of stay was longest in PD patients (39days vs. 18days vs. 26days), respectively. However, cost of hospitalization was greatest in CKRT patients (US $490,916 vs. US $218,514 vs. US $621,554), respectively. In the entire cohort, 54,424 newborns had acute kidney injury (AKI); of them 16,999 (31%) died. KRT was used in 2,688 (4.9%) of infants with AKI. Over the study period, trends for utilization of PD (from 0.042 to 0.06%) and CKRT (from 0.03 to 0.21%) increased whereas the hemodialysis trend decreased (from 0.021 to 0.013%). Congenital heart disease(CHD) and congenital anomalies of the kidneys and urinary tract (CAKUT) are the major diagnoses in newborns receiving KRT. Utilization of PD was greater than HD and CKRT. Trends of PD and CKRT utilization increased over time. Less than 5% of infants diagnosed with AKI received KRT.

Renal outcome in patients with complex anorectal malformations

Introduction: Anorectal malformations (ARMs) are one of the most frequent congenital malformations in pediatric surgery. Its estimated incidence ranges between 1 in 2000 and 1 in 5000 live newborns approximately. The aim of the work is to present the associated urinary anomalies and functional renal outcomes in patients with worse prognosis anorectal malformations treated in our department Material and methods: A retrospective review of the patients operated at our center with complex anorectal malformations was performed, including urological abnormalities and long-term renal follow-up. Collected data included the type of urinary abnormality, classified as high or low, renal function (glomerular filtration rate and blood creatinine level), the presence of chronic kidney failure (CKD), the need for surgery to correct the urinary abnormality, the need for kidney transplantation and complications and long-term results. Results: A total of 55 patients were included, 32 girls and 23 boys. Mean age at the time of corrective surgery for the anorectal malformation was 9 months (SD 2.18). The mean follow-up of the patients was 13 years (SD 7.01). Sixty-nine per cent of the patients presented some urological anomaly, being more frequent in the cloacal group. Renal structural abnormalities were found in 22 (40%) of 55 patients. They were identified in 11 (47%) cloacal patients, being the most frequent renal dysplasia (n=7; 32%), followed by position abnormalities in 3. Regarding the lower urinary tract anomalies, it was described in 32 (58%) patients. In the cloacal group, the incidence was 65%, being the most frequent vesicoureteral reflux (n = 14, 60%) as well as in the group of patients with a fistula to the prostatic urethra and in the group with exstrophies of the cloaca (n = 3, 42%). Regarding the rest of the lower urinary tract anomalies, the general incidence of anatomic bladder anomalies (bladder diverticulum, patent urachus) was 15%. As a pathology related to the upper urinary tract: primary obstructive megaureter 5%, ureterocele 1% and posterior urethral valves 1%. Conclusions: Patients with complex anorectal malformations have a significant risk for renal impairment. Adequate screening, high level of suspicion, treatment and long term follow up of any associated urinary anomaly in patients with complex anorectal malformations is essential to preserve renal function and prevent CKD. Care by a multidisciplinary team and adequate transition to adulthood is essential to optimize the medical management of patients and long-term outcomes.

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.

Combination of plastic surgery of the pyeloureteral junction with kidney transposition and nephropexy in hydronephrosis of a dystopic kidney

Introduction. Obstruction of the pyeloureteral junction is the most common anomaly of the upper urinary tract. Irrespective of the causes, narrowing of the ureteropelvic junction leads to abnormal urine outflux, increased intrarenal pressure, gradual sclerosis of renal parenchyma, loss of kidney function. In some cases, obstruction of the ureteropelvic junction can be accompanied by dystopic kidney, nephroptosis, abnormal location of the main and accessory renal vessels which requires correction of the standard surgical treatment.The study objective is to evaluate the effectiveness of combination of laparoscopic pyeloplasty with kidney transposition and nephropexy in obstruction of the pyeloureteral junction of a dystopic kidney.Materials and methods. Medical records of 8 patients who underwent surgery in the Kracnoyarsk Regional Clinical Hospital between 2017 and 2021 were analyzed. Obstruction of the pyeloureteral junction was confirmed clinically by ultrasound of the kidneys, excretory retrograde pyelography, contrast-enhanced spiral computed tomography.Results. In all of the 8 patients, lumbar dystopia of the affected kidney was diagnosed, in 25 % pathology was accompanied by nephroptosis, in 50 % of cases by abnormal location of the main and accessory renal vessels. All patients underwent laparoscopic plastic surgery of the pyeloureteral junction per Anderson–Hynes with antegrade ureter stenting, kidney transposition, nephropexy. Mean operative time was 190 ± 39 min, no intraoperative blood loss was observed. Ureteral catheter was removed at day (6.3 ± 2.2). Hospital length of stay was 9.3 ± 3.7 days. In 1 patient, postoperative period was complicated by suture breakage in the posterior wall of the pyeloureteral anastomosis which required repeat laparoscopy to correct suture defect. Time of ureteral stent implantation was 34.6 ± 8.5 days. Control examination showed full remission of pain syndrome. Excretory urography showed full outflow of the contrast agent after examination with furosemide in 100 % of cases.Conclusion. Combination of laparoscopic plastic surgery of the pyeloureteral segment with kidney transposition and nephropexy is an effective minimally invasive operation for treatment of ureteropelvic junction stricture of a dystopic kidney.

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.

Correlation Between the Urine Analysis in Neonates with Renal Anomaly

Background: According to the literature, urine analysis to diagnose urinary tract infection (UTI) in neonates is not the basis. It even is not recommended as a part of the evaluation, but some abnormalities in a simple urine test in neonates with UTI may be associated with urinary tract anomaly. Therefore, a simple urine test in neonates with UTI can be helpful for early diagnosis and timely treatment of urinary tract anomalies. Methods: This study was performed as a cross-sectional study. First, 100 neonates hospitalized for various reasons and diagnosed with urinary tract infections were chosen. Before treatment, urine samples were taken from all neonates by catheterization or suprapubic sterility for culture and urine bag for urinalysis. Finally, neonates with positive culture were treated with antibiotics and evaluated; kidney and urinary tract ultrasound and voiding cystourethrography (VCUG) is used to diagnose renal anomalies. The obtained information from urine analysis of neonates without urinary tract anomalies was compared with urinary tract anomalies neonates by SPSS 21 software. To compare the qualitative data, the chi-square and Fisher’s exact tests were used, whereas to compare the quantitative data, we used Wilcoxon test. P &lt; 0.05 was considered statistically significant. Results: Out of 100 patients who were evaluated, only 30 patients had renal anomalies. No statistically significant correlation was found between gender, cause of hospitalization, positive culture, and type of organism with the renal anomaly. However, pyuria (P-value 0.003), bacteriuria (P-value 0.016), fever (P-value 0.002), nitrite positive (P-value 0.001), and leukocyte esterase (P-value 0.001) showed a statistically significant correlation with the renal anomaly. Conclusions: Certain indicators such as pyuria, bacteriuria, nitrite, and leukocyte esterase can be seen in a simple urine analysis as criteria for suspicious urinary tract anomalies in neonates with UTIs.

Persistent Aseptic Pyelonephritis After Acute Bacterial Pyelonephritis: Possible Role of Corticosteroids

Persistent Aseptic Pyelonephritis After Acute Bacterial Pyelonephritis: Possible Role of Corticosteroids

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

Surgical approach to the treatment of urinary tract anomalies

Surgical approach to the treatment of urinary tract anomalies

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.

The Emerging Role of MR Urography in Imaging Megaureters in Children.

IntroductionMegaureter, described as ureter dilatation more than 7 mm in diameter, commonly associated with other anomalies, is still a diagnostic and therapeutic challenge. Magnetic resonance urography (MRU) appears as a promising method in urinary tract imaging, providing both anatomical and functional information. There are several postprocessing tools to assess renal function (including differential renal function) and severity of ureteral obstruction based on MRU. Still, the place of this method in the diagnostic algorithm of ureteropelvicalyceal dilatation with megaureter remains underestimated. Analysis of imaging findings in a group of children diagnosed with megaureter was done.Material and MethodsA retrospective analysis of magnetic resonance urography (MRU) was performed in 142 consecutive patients examined from January 2013 to September 2019. Twenty-five patients meeting the criteria of megaureter (dilatation more than 7 mm) in MRU were included in the further analysis. The MRU, ultrasound (US), and scintigraphy results were compared and analyzed together and compared with clinical data.ResultsThe sensitivity and specificity of US was comparable to the MRU in the assessment of upper urinary tract morphology (p > 0.05). In five out of 25 children, megaureter was found in each kidney; in a single case, both poles of a duplex kidney were affected. In the diagnosis of ureter ectopia, the MRU was superior to the US for which sensitivity did not exceed 16%. The US showed limited value in the diagnostics of segmental ureter dysplasia as a cause of primary megaureter when compared with MRU. Four cases were visualized in MRU studies, whereas the US examination was negative (all confirmed during surgery). There was a moderate correlation between relative renal function between fMRU and scintigraphy (t = 0.721, p = 0.477) and in the severity of obstruction assessment between both methods (r = 0.441, p < 0.05). However, in 10 kidneys with megaureter, the results in scintigraphy were inconclusive due to the signal from the megaureter imposing on the renal field.ConclusionsMRU seems to be a preferred method in the diagnostic algorithm for megaureter, providing both anatomical and functional information. MRU is superior to US and scintigraphy in diagnosing urinary tract anomalies with megaureter.

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.

Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles

BackgroundRearrangements of unstable DNA sequences may alter the structural integrity or the copy number of dose-sensitive genes, resulting in copy number variations. They may lead more frequently to deletions, in addition to duplications and/or inversions, which are the underlying pathogenic mechanism of a group of conditions known as genomic disorders (or also contiguous gene syndromes). Interstitial deletions of the short arm of chromosome 1 are rare, and only about 30 patients have been reported. Their clinical features are variable, in respect of the extent of the deleted region. They include global developmental delay, central nervous system (CNS) malformations, craniosynostosis, dysmorphic face, ocular defects, cleft palate, urinary tract anomalies and hand/foot abnormalities.Case presentationHereby, we report on an Italian female newborn with craniosynostosis, facial dysmorphisms including bilateral microphthalmia and coloboma, cleft palate, and a severe global developmental and growth delay, associated to a 1p31.3p22.2 deletion of 20.7 Mb. This was inherited from the healthy mother, who was carrier of a smaller (2.6 Mb) deletion included within the centromeric region (1p22.3p22.2) of the same rearrangement, in addition to a translocation between chromosomes 1p and 4q. The deleted region of the proband contains about ninety genes. We focus on the genotype–phenotype correlations.ConclusionsThe results of the present study further confirm that microdeletions at 1p31.3 constitute a contiguous gene syndrome. It is hard to establish whether the critical rearrangement of such syndrome may involve the centromeric band p22.3p22.2, or more likely do not, also in light of the genomic profile of the healthy mother of our patient. Neonatologists and pediatricians should take into consideration 1p31 microdeletion in cases of developmental and growth delay associated to craniosynostosis, peculiar facial dysmorphisms, cleft palate and hand/foot abnormalities. The present report provides new data about 1p31 microdeletion syndrome, in view of a better characterization of its genomic and phenotypic profile.

Vesicoureteral Reflux in Children with Urinary Tract Infections in the Inpatient Setting in Taiwan.

PurposeChildren with vesicoureteral reflux (VUR) are at an increased risk of recurrent urinary tract infections (UTIs). Early detection and treatment of VUR are important to prevent renal function impairment. Therefore, the aims of this study were to determine the epidemiology of VUR and to identify clinical factors associated with VUR in Taiwanese children with a first documented UTI.Patients and MethodsWe conducted this nationwide retrospective study using the Longitudinal Health Insurance Database 2010. Children ≤6 years of age who were admitted and received intravenous antibiotics for a newly diagnosed UTI were included. Multivariate logistic regression analysis was used to identify independent factors associated with VUR.ResultsOverall, 388 (10.2%) of the children had VUR. The median (interquartile range) age at diagnosis of VUR was 0.5 (0.3–1.3) years. Among the children with VUR, the age at first UTI and the age at diagnosis of VUR were significant lower in the males than in the females. Age ≤1 year at the first UTI (odds ratio (OR), 1.3; 95% confidence interval (CI): 1.0–1.7), renal agenesis and dysgenesis (OR, 4.1; 95% CI: 1.3–13.1), hydronephrosis (OR, 2.2; 95% CI: 1.7–2.9), duplex collecting system/ectopic kidney/ectopic ureter (OR, 13.0; 95% CI: 8.1–20.8), neuropathic bladder (OR, 4.7; 95% CI: 2.0–11.1) and spina bifida (OR, 5.9; 95% CI: 1.3–27.8) were independent factors for VUR.ConclusionThe children with VUR were more likely to have small kidneys and progression to end-stage renal disease. VUR was common in the children with a UTI and who were ≤1 year of age. Clinicians should arrange ultrasound to diagnose urinary tract anomalies. Infants with urinary tract anomalies, neuropathic bladder and spina bifida should receive further voiding cystourethrography to diagnose VUR early, as this may help to prevent renal damage.

Recurrent deep venous thrombosis of lower extremities as a result of compression of large horseshoe kidney cysts in double inferior vena cava - Successfully treatment with sclerotherapy.

Horseshoe kidney is a well-known congenital anomaly and the most common anomaly of the upper urinary tract. This condition is rarely associated with anomalous inferior vena cava (IVC). Polycystic horseshoe kidney is a very rare occurrence and however IVC anomalies common with polycistic disease are an increasingly recognized risk factor for iliofemoral deep venous thrombosis. We present a case of 75-year-old patient with recurrent deep vein thrombosis (DVT) of right leg as a result of compression of large horseshoe kidney cysts in double inferior vena cava. Large renal cyst were successful treated percutaneously punctured for the relief of compression and received injection of acidic solutions of 95% ethanol under ultrasound guidance for prevention against re-accumulation of cyst fluid. Percutaneous aspiration with ultrasound guidance with injection of sclerosing solutions as a relatively simple procedure and can be the method of choice for treatment of renal cysts. Also, any recurrent deep vein thrombosis on lower extremity requires additional evaluation in the form of an ultrasound or multidetector computed tomography examination of the abdomen.