Congenital Anomalies Of Urinary Tract Research Articles

Prospective Study on Several Urinary Biomarkers as Indicators of Renal Damage in Children with CAKUT.

The aim of the study was to investigate urinary levels of monocyte chemotactic protein-1 (MCP-1), epidermal growth factor (EGF), β-2-microglobulin (β2M), and FAS-ligand (FAS-L) in children with congenital anomalies of kidney and urinary tract (CAKUT) disease at risk of developing glomerular hyperfiltration syndrome. For this reason, we selected patients with multicystic kidney, renal agenesia and renal hypodysplasia, or underwent single nephrectomy. This prospective, multicentric study was conducted in collaboration between the Pediatric Surgery Unit in Foggia and the Pediatric Nephrology Unit in Bari, Italy. We enrolled 80 children with CAKUT (40 hypodysplasia, 22 agenetic; 10 multicystic; 8 nephrectomy) who underwent extensive urological and nephrological workup. Exclusion criteria were recent urinary tract infections or pyelonephritis, age > 14 years, presence of systemic disease, or hypertension. A single urine sample was collected in a noninvasive way and processed for measuring by enzyme-linked immunosorbent assay urine levels of MCP-1, EGF, β2M, and FAS-L. As control, urine samples were taken from 30 healthy children.Furthermore, we evaluated the urinary ratios uEGF/uMCP-1 (indicator of regenerative vs inflammatory response) and uEGF/uβ2M (indicator of regenerative response vs. tubular damage). These results suggest that urinary levels of MCP-1 are overexpressed in CAKUT patients. Furthermore, our findings clearly demonstrated that both uEGF/uMCP-1 and uEGF/uβ2M ratios were significantly downregulated in all patient groups when compared with the control group. These findings further support that CAKUT patients may, eventually, experience progressive renal damage and poor regenerative response. The increased urinary levels of MCP-1 in all groups of CAKUT patients suggested that the main factor responsible for the above effects is chronic renal inflammation mediated by local monocytes.

Neonatal acute kidney injury: recording rate, course, and outcome: one center experience

Background: Neonates, and particularly preterm newborns, are at increased risk for acute kidney injury (AKI) due to immature kidney function. While specific criteria have been defined for AKI in this particular population, this diagnosis is frequently overlooked, and consequently, is often not recorded in patients’ medical files. AKI-associated short- and long-term morbidity and mortality underline the importance of this diagnosisObjective: To assess the recording rate of AKI in the neonatal intensive care unit (NICU), and to identify clinical features that may promote awareness to this condition.Study design: The database of one medical center was searched for serum creatinine values above 1 mg% among all the newborns (more than 48 hours old) who were hospitalized in the neonatal intensive care unit (NICU) during the years 2010–2015, and who underwent at least two blood tests during their hospitalization. The files of patients who met acute kidney injury (AKI) diagnostic criteria were searched for AKI diagnosis, maternal, fetal, and postnatal course and outcome.Results: Of 59 newborns who met AKI criteria, 51 (86%) were preterm and 8 term newborns. The respective mean gestational weeks at birth were: 28 ± 3 and 38.5 ± 1, and mean birth weights: 1002 ± 57 and 3157 ± 375 grams. Mortality rates were 14/51 (27%) versus 1/8 (12.5%). Of the 44 survivors, AKI was recorded in the medical files of 9/37 (24%) preterm versus 5/7 (71%) term-newborns. AKI associated with twin pregnancy in preterm neonates: 22 (43%) versus 1 (12.5%) in term-newborn. Unexpected high frequencies of maternal obstetrical problems and cesarean section delivery: 62.5 and 78%, respectively, along with persistently depressed 5-min Apgar 6.6 ± 3.5 were found in term newborns with AKI. Congenital anomalies of the urinary tract (CAKUT) were suspected prenatally on fetal ultrasound in 3 (6%) and 1 (12.5%) of the respective groups, a 10-fold higher rate than that observed in the general population. AKI recurred in 18 (35%) of the preterm and none of the term neonates. Mild AKI episodes (Stage 1–2) occurred in 30/37 (81%) by contrast to severe events (Stage 3) in 4/7 (57%) preterm and term survivors, respectively. Ventilation duration associated significantly with AKI recurrence, and sepsis with mortality: OR 1.25 (95%CI = 1.09–1.43) (p < .001) and OR = 4.65 (95%CI = 1.26–17.2) (p = .014), respectively.Conclusions: We demonstrated underreporting of AKI, particularly among preterm newborns, a population at high risk of developing recurrent episodes. Our data suggest different clinical profiles of AKI among preterm and term neonates: with later onset, milder but recurrent episodes in the former. Increased alertness for AKI diagnosis is needed for neonates with prolonged respiratory support, treated with diuretics and after sepsis. Newborns suspected of CAKUT (Congenital Anomalies of Kidneys and Urinary Tract) as per fetal ultrasound might need closer observation for AKI occurrence.

Management of ureteropelvic junction obstruction associated with congenital upper urinary tract anomalies in children: Single-center experience

Purpose We report our experience in the management of ureteropelvic junction obstruction in children with congenital upper urinary tract anomalies.Materials and methods A retrospective review was performed for all children with primary ureteropelvic junction obstruction associated with upper urinary tract anomalies between 1999 and 2011 at our hospital. Medical records were reviewed for patient age, sex, type of urinary tract anomalies, affected side, indication of surgery, and operative details. Clinical and radiological outcomes were assessed. Success was defined as both symptomatic relief and radiographic resolution of obstruction at final follow-up.Results There were 12 children (10 boys and two girls) with mean age of 5.3 years (range 1–13 years). Anomalies included ectopic pelvic kidney in six patients, crossed fused ectopia in two, a horseshoe kidney in two, and duplex renal units in two. The left kidney was affected in seven and the right kidney in five children. All patients were managed by open dismembered pyeloplasty. No significant perioperative complications were encountered in the study group. The mean follow-up was 30 months (range 15–45 months). Overall success rate was 84%. Relief of obstruction was evident in 10 patients as documented by intravenous urography or diuretic renography. Secondary nephrectomy was necessitated in two patients; one had severely impaired ipsilateral renal function and the other had recurrent pyelonephritis without radiological improvement.Conclusion Despite the anomalous renal anatomy and the challenging surgical exposure, dismembered pyeloplasty in children with upper urinary tract anomalies has a high success rate with excellent functional results.Keywords: crossed ectopic, horseshoe kidney, obstruction, pyeloplasty, ureter

Concurrent Evaluation for Congenital Reproductive and Urinary Tract Anomalies in Girls

Concurrent Evaluation for Congenital Reproductive and Urinary Tract Anomalies in Girls

Environmental factors associated with congenital anomalies of kidney and urinary tract

Congenital anomalies of kidney and urinary tract(CAKUT)is a common birth defect in children, which is regulated by genetic and environmental factors.In this paper, we search CAKUT literatures and reviews about environmental factors and find that low protein diet, high salt and low salt intake, gestational diabetes, pregnancy obesity, drug intake during pregnancy and other factors are related to CAKUT. Key words: Congenital anomalies of kidney and urinary tract; Environment

One-phase Split-bolus CT Urography – a Novel Approach To Reduce Radiation Dose in Diagnostics of Congenital Anomalies of Kidneys and Urinary Tract in Children

BackgroundLow-dose CT Urography (LD-CTU) has become a standard procedure in urinary tract abnormalities in children, especially when MR Urography is not available. Standard one-phase CTU is performed in excretory phase. There is also a split-bolus technique, which combines two or even three phases during one scan and provides more clinical information without higher radiation exposure. It can be implemented for congenital anomalies of kidneys and urinary tract (CAKUT) in children, however, this application is not deeply discussed in scientific literature. Aim of this publication is to present the protocol and determine the role of LD-CTU in diagnostic imaging of CAKUT in children.Material and methodsClose to 300 CTUs in children were performed as a standard of care during the last 6 years in our Department. Diagnostic accuracy in suspected CAKUT was analyzed, depending on applied protocol − standard excretory CTU, multiphase CTU and two different one-phase split-bolus CTU protocols.ResultsVisualization of the urinary tract was adequate in all study protocols. However, more clinically significant information was received in vascular-excretory protocol, including vascular and renal anatomy. Radiation exposure was similar or even lower than in other study protocols.ConclusionsOne-phase split-bolus CTU protocol is a novel approach in low-dose diagnostic imaging of CAKUT in children. Combination of vascular and excretory phases has been shown as very effective technique, especially in comprehensive anatomical assessment of the abnormality and qualification to surgical intervention.

Solitary functioning kidney in children: clinical implications.

ABSTRACTIntroduction:Children with solitary functioning kidney (SFK) are prone to develop long term problems, which are not well represented in the literature. The extent to which the presence of associated congenital anomalies of kidney and urinary tract (CAKUT) further de-stabilize renal function is to be addressed.Objective:This study was conducted to evaluate the etiology, presentation, presence of CAKUT, and renal damage in children with SFK.Methods:All children with SFK who presented to the department of pediatric surgery from March 2014 to May 2016 were included in the study. Children with malignancy were excluded from the study.Results:Of the 20 patients with SFK, 14 (70%) had primary SFK (8 with agenesis and 6 with multicystic dysplastic kidney), 6 (30%) belonged to secondary SFK group, among them 3 had pelviureteric junction obstruction, 2 had posterior urethral valves and 1 had vesicoureteric reflux. Eight (40%) had associated CAKUT, 4 (20%) were asymptomatic while 8 (40%) had UTI and 6 (30%) had hypertension. Ten (50%) patients had reduced glomerular filtration rate (GFR) suggesting compromised renal function.Conclusion:Children with SFK have high morbidity especially when associated with ipsilateral CAKUT. Long-term periodical follow up is essential in these patients to improve clinical outcome.

Holding Water: Congenital Anomalies of the Kidney and Urinary Tract, CKD, and the Ongoing Role of Excellence in Plumbing.

Congenital anomalies of the kidneys and urinary tracts can result in diminished natal kidney function, possibly through common embryologic pathway disruption or as a result of development taking place in the face of disordered 'post-renal' drainage. Impaired conduit and reservoir function present potential for an ongoing assault leading to further deterioration and progression of chronic kidney disease, a risk that extends to adults with these conditions, even after "correction". The drainage and storage aspects of the urinary system that can impact kidney function are reviewed with attention to correctable or manageable problems including: Bladder dysfunction wherein the low pressure storage of urine is compromised requiring the kidney to work against a pressure gradient, the classic post renal failure problem. The kidney in the aftermath of obstruction which may have lost concentrating capacity leading to a tendency to dehydration ('pre-renal' failure) and through polyuria which exacerbatesbladder pressure problems. Further there is an added challenge in evaluation for ongoing or reemergent obstruction in a significantly dilated system where the capacious system leads to slow turnover of urine often requiring a ureteral stent or nephrostomy to clearly establish clinical significance of delayed drainage. Stasis where slow urine flow leads to buildup of debris (stone) or potentiates infection. Vessicoureteral reflux which allows for introduction of lower urinary tract bacteria to the kidney and can lead to pyelonephritis. Conditions which combine problems such as posterior urethral valves where the bladder outlet obstruction compromises kidney function potentially impairing concentrating ability, creates bladder compromise often reducing emptying efficiency or elevating bladder storage pressures, as well as dilating the system potentially promoting stasis. Cognizance of the potential for plumbing problems to further kidney deterioration as patients with congenital urinary tract anomalies, even after they have been repaired is incumbent on those caring for these patients as they age. Thoughtful evaluation of those patients in whom kidney compromise maybe aggravated by drainage and storage disorder will optimize native renal function.

Antibiotics for performing voiding cystourethrogram: a randomised control trial

ObjectiveTo assess whether antibiotic reduces voiding cystourethrogram (VCUG)-associated urinary tract infection (UTI).DesignOpen-labelled randomised controlled trial.SettingTertiary paediatric nephrology centre.Patients120 children (age 2 months–5 years) undergoing VCUG.InterventionsChildren were randomised into group A...

Surgical Outcome of Peritoneal Dialysis Catheter Insertion in Pediatric Patients: An Experience in Iran

Background: Early and late surgical complications of peritoneal dialysis (PD) come along with important and sometimes devastating morbidity, interference of medical care, decreased performance of dialysis, eventually increase the rate of mortality. The aim of our study was to evaluate the changes in the rate of surgical complications and the outcome of PD catheter insertion in a tertiary center in Iran since starting PD program. Methods: This was a retrospective cohort study conducted between 1993 and 2012. Inclusion criteria were all children aged 14 years or younger with chronic kidney disease who underwent peritoneal dialysis. Patients with acute peritoneal dialysis and those who were followed up for less than six months were excluded. eGRF was calculated using Schwartz formula. The surgical complications including catheter malfunction, leak, Dacron sheet extrusion, and hernia were considered. Catheter survival, rate of catheter changes, and rate of peritonitis were calculated in two time period. P value less than 0.05 was considered as statistically significant. Results: During a 19 year interval, 86 PD catheters were inserted in 50 patients, with a median (range) age of 22.5 (1 - 192) months. The most common underlying diseases were CAKUT (congenital anomaly of kidney and urinary tract, 32%), cystic kidney disease (26%), congenital nephrotic syndrome (16%), and hemolytic uremic syndrome (14%). Median eGFR at the time of operation was 7.8 (4 - 31.4 mL/min/1.73 m2). Catheters were inserted laparoscopically in 4.6%. Among surgical complications, 39% of patients developed hernia in median of five months after surgery, in addition catheter malfunction, dislocation, adhesion, or cuff extrusion developed in 22% of cases. The most common reasons for removal were catheter related (outflow failure, adhesion, cuff extrusion) (21%) and infection (peritonitis, tunnel infection) (17.4%). Reoperation for catheter related complication was required in 21 (42%) patients. However, the number and the cause of catheter exchange and the outcome of patients were not statistically significant in two time periods; The rate of outflow failure (77% vs. 25%), peritonitis rate (1 per 7.5 vs. 56.9 patient-months) and catheter reinsertion rate (1 per 30.8 vs. 63.7 patient-months) improved significantly from the time period before 2005 and afterward. The median (range) follow up of patients was 29 (6 - 126) months. Almost 20% transplanted, -26% were still on CAPD, 6% switched to hemodialysis, renal function recovered in 10%, and 38% died. Conclusions: This study shows that although improvement in our technique has been accomplished and complications related to technique of insertion are declining; catheter and patient outcomes still are far from standard.

Congenital unilateral renal agenesis: Prevalence, prenatal diagnosis, associated anomalies. Data from two birth-defect registries.

The different mechanisms leading to a solitary kidney should be differentiated because the long-term outcome might be different. The fetal period is the best moment to make a true diagnosis of congenital unilateral renal agenesis (URA). The objective was to determine the prevalence of URA at birth. The secondary objectives were to describe the evolution of sensitivity of prenatal diagnosis over time and the different forms of URA (isolated and associated with other malformations) detected up to 1 year. The cases were retrospectively identified through two French population-based birth defect registries (Auvergne and Bas-Rhin) between 1995 and 2013. Stillbirths and fetuses up to 22 weeks of gestation and infants up to 1 year old with URA were included. A total of 177 cases of URA were registered. The prevalence at birth was 4.0/10,000. The overall prenatal prevalence was 3.6/10,000 (isolated URA: 2.8/10,000). URA were isolated (59.9%), associated with isolated contralateral congenital anomaly of kidney or urinary tract (CAKUT) (7.3%) and with other extra-renal anomalies (32.8%). The total proportion of contralateral CAKUT was 15%. Only three cases presented an aneuploidy, prenatally detected and conducting to a termination of pregnancy. The sensitivity of prenatal diagnosis improved over time (from 54.2% in 1995 to 1997 to 95.8% in 2010 to 2013; p = 0.002). Our study provides estimates of prevalence of URA at birth. A longitudinal cohort from the antenatal period to puberty should be performed to determine the prognosis of the contralateral kidney among these children with isolated, associated with contralateral CAKUT and URA with extra-renal anomalies. Birth Defects Research 109:1204-1211, 2017. © 2017 Wiley Periodicals, Inc.

Clinical analysis of 108 cases with chronic kidney disease at stage 2 to 5 in children

Objective To analyze the pathogenesis, initially diagnosed symptoms and clinical manifestations of children with chronic kidney disease(CKD) at stage 2 to 5. Methods The data of 108 children who were hospitalized in Children′s Hospital Affiliated to Capital Institute of Pediatrics from September 2007 to April 2016 with CKD stage 2 to 5 were retrospectively analyzed.The etiologies, clinical manifestations and examinations were summarized, and the clinical manifestations were compared between the congenital hereditary urinary diseases group and the acquired urinary diseases group. Results (1) In the 108 cases collected, 66 cases were male, 42 cases were female, aged from 3 months to 15 years and 1 month old.Twenty-four cases were diagnosed at stage 2, 26 cases at stage 3, 35 cases at stage 4, and 23 cases at stage 5.(2)Twenty-eight kinds of illness were involved in the cause of CKD.Among them, 57 cases(52.8%) had congenital anomalies of the kidney and urinary tract, 5 cases(4.6%) had hereditary kidney diseases, 41 cases(38.0%) had other primary or secondary kidney diseases, and in 5 cases(4.6%) the causes of disease were unknown.(3) For the initially diagnosed symptoms, 29 cases(26.9%) were due to complaints associated with kidney disease, 36 cases(33.3%) were of other outside kidney symptoms, and 43 cases(39.8%) were of negative symptoms.The results of urinary ultrasound were abnormal in 79 cases(73.1%) and 87 cases(80.6%) showed abnormality in urinary analysis.There were 105 cases (97.2%) with abnormal manifestations either in urinary tract ultrasound or in urinary analysis.(4)The ages on diagnosis as CKD in children with congenital hereditary urinary diseases(5.89 years old) were younger than that of children with acquired urinary diseases(9.20 years old), and the difference was significant(Z=-3.434, P=0.001). The frequency of cases with short stature or lower-weight in group of congenital hereditary urinary diseases[66.1%(41/62 cases), 64.5%(40/62 cases)] were significantly higher than those of the acquired urinary diseases group[43.9%(18/41cases), 43.9%(18/41 cases)], and the differences were statistically significant(χ2=4.983, 4.263, P=0.026, 0.039). Conclusions The causes of CKD are complicated, and the congenital anomalies of kidney and urinary tract are the major causes of CKD at stage 2 to 5 in the cases.The initially diagnosed symptoms of CKD are insidious and atypical.The children with congenital hereditary urinary diseases tend to have more serious growth retardation.Urinary analysis and ultrasound may have an important significance for early diagnosis of CKD in children. Key words: Chronic kidney disease; Child; Etiology; Clinical manifestation

Congenital Anomalies of the Kidney and Urinary Tract in Children Born Small for Gestational Age.

Congenital anomalies of the kidney and urinary tract (CAKUT) represent several types of malformations with occurrence of 1 in about 500 live births. Small for gestation age (SGA) may influence in prevalence of CAKUT and progression of chronic kidney disease (CKD) in children. The aim of this study was to elaborate our experiences with detected CAKUT in a cohort of SGA born children in Macedonia. Our cohort consisted of 100 SGA born children investigated for associated congenital anomalies of urinary tract. We analyzed anthropometric and clinical birth data in children with diagnosed CAKUT and estimated the stage and time of onset of CKD by biochemical and imaging technics. We revealed 7 (7.0%) SGA born children with congenital anomalies of the urinary tract. Their mean birth weight was very low 1855 gr (-3.93 SDS) and the birth length 45.57cm (-2.17 SDS), as well. A significant growth failure with reduced weight and BMI were noticed at the time of diagnosis. A diagnosis of CAKUT in 4/7 was established in the first few months of life, but in others 3 later in early childhood. Three children revealed with unilateral kidney agenesis, 2 had hypo-dysplastic kidneys and in 2 children was found vesicoureteral reflux. Normal glomerular filtration rate was estimated in 2 children with CAKUT. Stage 2 CKD with GFR 60-90 ml/minx1.73m2 had 3 children, 1 patient was graded in stage 3 and one child needed kidney transplantation, stage 5 CKD. We presented 7 SGA born children with CAKUT. An early recognition, assessment and treatment of these anomalies might improve their quality of life.

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

BackgroundThe DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2; the genetic driver of the kidney defects is unknown.MethodsWe conducted a genomewide search for structural variants in two cohorts: 2080 patients with congenital kidney and urinary tract anomalies and 22,094 controls. We performed exome and targeted resequencing in samples obtained from 586 additional patients with congenital kidney anomalies. We also carried out functional studies using zebrafish and mice.ResultsWe identified heterozygous deletions of 22q11.2 in 1.1% of the patients with congenital kidney anomalies and in 0.01% of population controls (odds ratio, 81.5; P=4.5×10−14). We localized the main drivers of renal disease in the DiGeorge syndrome to a 370-kb region containing nine genes. In zebrafish embryos, an induced loss of function in snap29, aifm3, and crkl resulted in renal defects; the loss of crkl alone was sufficient to induce defects. Five of 586 patients with congenital urinary anomalies had newly identified, heterozygous protein-altering variants, including a premature termination codon, in CRKL. The inactivation of Crkl in the mouse model induced developmental defects similar to those observed in patients with congenital urinary anomalies.ConclusionsWe identified a recurrent 370-kb deletion at the 22q11.2 locus as a driver of kidney defects in the DiGeorge syndrome and in sporadic congenital kidney and urinary tract anomalies. Of the nine genes at this locus, SNAP29, AIFM3, and CRKL appear to be critical to the phenotype, with haploinsufficiency of CRKL emerging as the main genetic driver. (Funded by the National Institutes of Health and others.)

ULTRASOUND MASS SCREENING OF NEONATES WITH CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT (CAKUT)

Background: Congenital anomalies of kidney and urinary tract represent the most common cause of end stage kidney disease in infant and children. Early detection of these changes allows timely initiation of more specific diagnostic studies, and of therapeutic interventions. Objective: This study was done to detect the incidence and risk factors of (CAKUT) in neonate. Patients and methods: This study was carried out on 390 neonates in the incubator of Al-Matariya Teaching Hospital and Al-Hussein University Hospital during the period from July 2014 to July 2015.All neonates were included except those with apparent congenital anomalies, surgical emergency orinborn errors of metabolism. All neonates after parent consents were subjected to full history, clinical examination and investigated by pelvi-abdominal ultrasound, serum creatinine level, and some cases subjected to more investigations in the form of computed tomography scan with intravenous urographin contrast medium, ascending cystourethrography and TC 99m DTPA dynamic renal scan. Results: The overall incidence of congenital anomalies of kidney and urinary tract was 3.3%. Positive family history of renal anomalies together with maternal history of diabetes mellitus and maternal age above 35 years were considered predictors for renal anomalies by binary logistic regression. Conclusion: Congenital anomalies of kidney and urinary tract (CAKUT) were major health issues and were the leading cause of ESRD in pediatric population.

Incidence of Congenital Anomalies of Urinary Tract in Patients with Dysuria in South Maharashtra Population

Incidence of Congenital Anomalies of Urinary Tract in Patients with Dysuria in South Maharashtra Population

Unilateral multicystic dysplastic kidney with ipsilateral grade V vesicoureteral reflux: A case report of a rare association

Multicystic renal dysplasia is a common cause of childhood end-stage renal failure and is categorized under the entity known as congenital anomalies of kidney and urinary tract. With the increasing knowledge about their natural history, it is now known that most of the cases of unilateral multicystic dysplastic kidney undergo spontaneous involution; thus, most of the pediatric urologists now prefer conservative management with long-term nephrological and urological observation. However, the presence of recurrent urinary tract infection as in the present case report due to associated ipsilateral Grade V vesicoureteral reflux, a rare associated finding mandates nephrectomy.

Renal Diseases in Children Attending Pediatric Nephrology Centers of Dhaka City

Introduction: Renal diseases in children can be congenital or acquired. In Bangladesh, pediatric nephrology care is available for last 2 decades, but there was no epidemiological study to see the pattern of renal diseases in children of the country. So, this study was carried out to observe the pattern of renal diseases in children of pediatric nephrology centers of Dhaka city. Materials and Methods : The children aged 1 day to 18 years with renal problems attended at selected four pediatric nephrology centers of Dhaka city (BSMMU, DMCH, DSH and NIKDU). Results: Among 6453 patients, 1123 were admitted in IPD and 5330 were visited at OPD. Mean age was 5.8±3.5 years in IPD patients and 6.90±1.37 years in OPD patients. In IPD among 1123 patients, 720 (64.1%) were male and 403 (35.8%) were female and in OPD among 5330 patients 3336 (62.59%) were male and 1994 (37.4%) were female. Nephrotic Syndrome (76% in IPD and 74% in OPD) was the most common disease followed by chronic kidney disease (CKD 6%) in IPD and urinary tract infections (UTI 9.4%)in OPD were the next common disease. Common presentations were proteinuria (27.6%), oliguria or anuria (26.2%) and edema (25.7%). Conclusions: The current pattern of renal diseases shows, that the most common renal diseases are NS followed by CKD and UTI. In the study male patients are more common than female. Keywords: Nephrotic Syndrome; Chronic Kidney Disease; Congenital Anomalies of Kidney and Urinary Tract; Acute kidney injury.

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

PurposeTo investigate the utility of whole-exome sequencing (WES) to define a molecular diagnosis in patients clinically diagnosed with congenital anomalies of kidney and urinary tract (CAKUT).MethodsWES was performed in 62 families with CAKUT. WES data were analyzed for Single Nucleotide Variants (SNVs) in 35 known CAKUT genes, putatively deleterious sequence changes in new candidate genes, and potentially disease-associated copy-number variants (CNVs).ResultsIn approximately 5% of families, pathogenic SNVs were identified in PAX2, HNF1B, and EYA1. Observed phenotypes in these families expand the current understanding about the role of these genes in CAKUT. Four pathogenic CNVs were also identified using two CNV detection tools. In addition, we found one deleterious de novo SNV in FOXP1 among the 62 families with CAKUT. Database of clinical BMGL laboratory was queried and seven additional unrelated individuals with novel de novo SNVs in FOXP1 were identified. Six of these 8 individuals with FOXP1 SNVs, have syndromic urinary tract defects, implicating this gene in urinary tract development.ConclusionWe conclude that WES can be used to identify the molecular etiology (SNVs, CNVs) in a subset of individuals with CAKUT. WES can also help identify novel CAKUT genes.

Multimodal Eph/Ephrin signaling controls several phases of urogenital development

A substantial portion of the human population is affected by urogenital birth defects resulting from a failure in ureter development. Although recent research suggests roles for several genes in facilitating the ureter/bladder connection, the underlying molecular mechanisms remain poorly understood. Signaling via Eph receptor tyrosine kinases is involved in several developmental processes. Here we report that impaired Eph/Ephrin signaling in genetically modified mice results in severe hydronephrosis caused by defective ureteric bud induction, ureter maturation, and translocation. Our data imply that ureter translocation requires apoptosis in the urogenital sinus and inhibition ofproliferation in the common nephric duct. These processes were disturbed in EphA4/EphB2 compound knockout mice and were accompanied by decreased ERK-2 phosphorylation. Using a set of Eph, Ephrin, and signaling-deficient mutants, we found that during urogenital development, different modes of Eph/Ephrin signaling occur at several sites with EphrinB2 and EphrinA5 acting in concert. Thus, Eph/Ephrin signaling should be considered in the etiology of congenital kidney and urinary tract anomalies.