Congenital Abnormalities Of Urinary Tract Research Articles

Diagnostic Accuracy of Non-Contrast Computed Tomography in Identification of Renal Calculi in Suspected Patients with Negative Intravenous Pyelogram

Background: Renal calculi, commonly known as kidney stones, are mineral deposits found in the renal calyces and pelvis, either free or attached to the renal papillae. These stones can cause significant pain and health complications, making accurate diagnosis crucial. While intravenous pyelogram (IVP) has been a traditional diagnostic method, non-contrast computed tomography (NCCT) has emerged as a potentially superior alternative due to its higher sensitivity and specificity. Objective: To determine the accuracy of non-contrast computed tomography (NCCT) in identifying renal calculi in symptomatic patients with negative intravenous pyelogram (IVP) results. Methods: This cross-sectional study was conducted at the University of Lahore Teaching Hospital from August 7, 2023, to March 20, 2024. A total of 416 symptomatic patients, aged 19 to 49 years, with negative IVP results were included. Patients previously diagnosed with urolithiasis/nephrolithiasis by other imaging modalities, those who were uncooperative, pregnant, severely ill, or with congenital urinary tract abnormalities, were excluded. Demographic and clinical data were collected through interviews. Each patient underwent an NCCT scan, which was interpreted by an experienced radiologist. Data analysis was performed using SPSS version 25, with continuous variables summarized as means and standard deviations, and categorical variables as frequencies and percentages. Chi-square tests were used to assess associations, with a significance level set at p<0.05. Results: Of the 416 patients, 250 (60.09%) were diagnosed with urolithiasis/nephrolithiasis on NCCT, while 166 (39.90%) were negative. The majority of positive cases were male (n=156, 70.90%), with the most common age group being 19-29 years (n=91, 58.33%). The most frequent anatomical site for calculi was the ureter (n=151, 36.30%), followed by the kidneys (n=60, 14.42%) and the urinary bladder (n=39, 9.37%). The size of the single calculi varied, with the most common sizes being 0.4-0.5 cm (27.81%). Conclusion: NCCT demonstrated a significantly higher diagnostic accuracy for urolithiasis/nephrolithiasis compared to IVP. Given its superior sensitivity and specificity, NCCT should be considered the preferred diagnostic modality for patients presenting with acute renal colic and negative IVP results. These findings can improve patient outcomes through timely and accurate diagnosis, reducing the need for unnecessary diagnostic procedures.

Clinical utility of genetic testing in Indian children with kidney diseases

BackgroundKidney diseases with genetic etiology in children present with an overlapping spectrum of manifestations. We aimed to analyze the clinical utility of genetic testing in the diagnosis and management of suspected genetic kidney diseases in children.MethodsIn this retrospective study, children ≤ 18 years in whom a genetic test was ordered were included. Clinical indications for genetic testing were categorized as Glomerular diseases, nephrolithiasis and/or nephrocalcinoses, tubulopathies, cystic kidney diseases, congenital abnormality of kidney and urinary tract, chronic kidney disease of unknown aetiology and others. Clinical exome sequencing was the test of choice. Other genetic tests ordered were sanger sequencing, gene panel, multiplex ligation-dependent probe amplification and karyotyping. The pathogenicity of the genetic variant was interpreted as per the American College of Medical Genetics classification.ResultsA total of 86 samples were sent for genetic testing from 76 index children, 8 parents and 2 fetuses. A total of 74 variants were reported in 47 genes. Out of 74 variants, 42 were missense, 9 nonsense, 12 frameshifts, 1 indel, 5 affected the splicing regions and 5 were copy number variants. Thirty-two were homozygous, 36 heterozygous and 6 were hemizygous variants. Twenty-four children (31.6%) had pathogenic and 11 (14.5%) had likely pathogenic variants. Twenty-four children (31.6%) had variants of uncertain significance. No variants were reported in 17 children (22.3%). A genetic diagnosis was made in 35 children with an overall yield of 46%. The diagnostic yield was 29.4% for glomerular diseases, 53.8% for tubular disorders, 81% for nephrolithiasis and/or nephrocalcinoses, 60% for cystic kidney diseases and 50% for chronic kidney disease of unknown etiology. Genetic testing made a new diagnosis or changed the diagnosis in 15 children (19.7%).ConclusionNearly half (46%) of the children tested for a genetic disease had a genetic diagnosis. Genetic testing confirmed the clinical diagnoses, changed the clinical diagnoses or made a new diagnosis which helped in personalized management.

Urine Neutrophil Gelatinase Associated Lipocalin as a Predictor of Vesicoureteral Reflux and Renal Parenchymal Damage: A Systematic Review

Background: Vesicoureteral reflux (VUR) is the most common congenital urinary tract abnormality in children. Renal parenchymal damage is the most devastating complication of severe undiagnosed VUR. Different diagnostic biomarkers have been introduced as alternatives for radiologic evaluation in these patients. This review article aimed to increase the knowledge about the role of urine neutrophil gelatinase-associated lipocalin (uNGAL) in children affected by primary VUR and renal parenchymal damage. Methods: A systematic review of PubMed, Scopus, Web of Science, ProQuest, and Ovid was conducted in September 2022 to retrieve studies that investigated the correlation between uNGAL or uNGAL/Cr excretion and primary VUR in male/female patients younger than 18 years of age. Patients with secondary VUR, age older than 18 years, infectious or inflammatory disorders, obstructive uropathies, and acute or chronic kidney diseases were excluded. Two reviewers independently screened the titles and abstracts of the search results and then assessed the full texts selected from the pertinent studies. Results: Eighteen research articles with a total sample of 699 patients were found to measure uNGAL in VUR or renal scarring. UNGAL or uNGAL/Cr had increased excretion in the majority of children with primary VUR or RPD, with a positive or no correlation to the severity of VUR. Conclusions: Several studies addressed uNGAL and uNGAL/Cr as putative biomarkers for the prediction of VUR or reflux-associated RPD.

Comparative Study of the Success Rate of Pyeloplasty in Patients with Ureteropelvic Junction Obstruction in Three Age Groups: Less than 3 Months, 3 Months to 1 Year, and More than One Year Old

Background and Objective: Ureteropelvic junction obstruction (UPJO) is one of the most common congenital urinary tract abnormalities, which if left untreated can lead to impaired renal function. There is controversy over when is the best time for surgery (early or delayed). Therefore, we decided to design a study based on our clinical experience to evaluate the success rate of pyeloplasty in different age groups. Materials and Methods: In this cross-sectional study, 110 patients who underwent pyeloplasty in Shahid Beheshti Hospital, Hamedan, Iran, from 2014 to 2019 were studied. A total of 26 patients were excluded from the study due to bilateral obstruction, or other concomitant urological disorders. We retrospectively reviewed the medical records of patients to collect demographic characteristics, clinical presentation, postoperative complications, anteroposterior pelvic diameter, parenchymal thickness, and the success rate of pyeloplasty. Results: Of 84 patients studied, 61 (72.6%) were male and 23 (27.4%) were female. Regarding the age of the patients, 22 (26.2%) individuals were less than 3 months old, 30 (35.7%) between 3 months to 1 year old, and 32 (38.1%) more than 1 year old. In total, surgery was successful in 72 (85.7%) patients. The success rates in the age groups of less than 3 months, 3 to 12 months, and more than 12 months were 90.9%, 86.7%, and 81.2%, respectively (P=0.598). It was found that APD decreased significantly after the surgery in all age groups (P=0.001), this change was significantly seen in the age group of less than 3 months (P=0.016). The most common complication was fever reported in 9.5% of the patients. Conclusion: The findings of the present study showed that early pyeloplasty surgery in infants and children with a diagnosis of high-grade UPJO could lead to improve morphological indices of the kidney and prevent complications.

Congenital Abnormalities of Kidneys and Urinary Tract in Children at the Dakar University Hospital

Congenital abnormalities of the kidneys and urinary tract (CAKUT) represent all the morphological abnormalities associated with a disorder of the embryonic development of the kidneys and their excretory tract. Its prevalence is underestimated in developing countries compared to developed countries. This was a cross-sectional and descriptive study between January 1st, 2015 and February 28th, 2020, carried out in the pediatric department of Aristide Le Dantec Hospital. The prevalence of CAKUT was 8.77% for all pediatric nephrologic pathologies (n = 58), the median age at diagnosis was 77.28 months and the sex ratio was 1.6. The circumstances of the discovery of CAKUT were dominated by urinary tract infection (n = 21), the antenatal diagnosis was poor (n = 13) and confusion between cysts and calyx dilation in antenatal was noted. Ultrasound was the main postnatal imaging test requested. The most common renal abnormality was kidney cysts (n = 18) (cystic kidneys and multicystic dysplastic kidney) and the most common urological abnormality was the posterior urethral valves (n = 8). Kidney failure was a pejorative factor in the evolution of these CAKUT.

A Rare and Challenging Renal Transplant in a Child with Complex Congenital Defects - A Case Report

Renal insufficiency is a distinct possibility in patients with congenital lower urinary tract abnormalities even though they are managed right from early childhood. Previously, such patients were not considered candidates for renal transplantation due to the fear of abnormal bladder affecting the graft kidney too. In the current era, it has been shown that the graft and patient survival rates are similar in such patients to those with normal lower urinary tract, if the urological abnormalities are managed well, before the transplantation. We present a case of successful renal transplantation in a pediatric patient with renal insufficiency due to pure urogenital sinus.

Renal Transplant in Pediatric Patients With Congenital Abnormalities of the Lower Urinary Tract

Congenital abnormalities of the lower urinary tract can result in end-stage renal disease and are responsible for a significant number of renal transplants. Management of these patients is not always consensual, and more evidence is required about the frequency of associated complications. Our aim was to report the experience of a Pediatric Renal Transplant Unit with renal transplant in pediatric patients with congenital abnormalities of the lower urinary tract. Data on renal transplants performed in pediatric patients with congenital abnormalities of the lower urinary tract between January 1, 2009, and December 31, 2019, in this center were retrospectively reviewed. Fifty-three pediatric renal transplants were performed in the institution during the considered time period. Of these, 26 transplants were performed in 24 patients with congenital abnormalities of the lower urinary tract, and 14 were male. The median age at the time of renal transplant was 10.5 years (interquartile range, 5.25-15 years), and the most frequent diagnoses were neurogenic bladder (n = 7; 29%) and posterior urethral valve (n = 7; 29%). Three patients (13%) underwent preemptive renal transplant, 15 were on peritoneal dialysis (63%), and 6 were on hemodialysis (25%). A total of 81 pyelonephritides were diagnosed in the 24 patients, mostly attributed to Escherichia coli, followed by Klebsiella pneumonia. The median follow-up was 92.5 months (interquartile range, 52.3-114 months). For patients with congenital abnormalities of the lower urinary tract, graft survival was 92.3% at 1, 5, and 10 years, with no deaths reported. Renal transplant is the treatment of choice for pediatric patients with end-stage renal disease. The procedure does not seem to be associated with worse patient outcomes. Additionally, despite the significant number of pyelonephritides cases, it does not seem to result in decreased graft or patient survival.

Conservative Management of Vesicoureteral Reflux

Vesicoureteral reflux (VUR) is defined as the retrograde flow of urine from the bladder to the upper urinary tract (the ureters and kidneys), caused by ureterovesical junction dysfunction. VUR is the most common congenital urinary tract abnormality; nevertheless, the conservative treatment for VUR remains controversial. In addition, the limited data availability made it difficult to establish a widely accepted treatment protocol. This study aimed to review available treatment modalities and recommendations with regard to the conservative management for VUR. An online literature search was performed on PubMed, PubMed Central, and Google Scholar. Studies were compared with several available guidelines. Based on literature search, the conservative management of VUR involves a multimodality approach, including the bladder-bowel dysfunction management through bladder training, anticholinergics and alpha-blockers, continuous antibiotic prophylaxis, and circumcision in male patients. Operative and other invasive treatment modalities may be considered in treatment failure or breakthrough urinary tract infection and should not be used as a first-line treatment.

Urinary Tract Abnormalities, in Hospital José Carrasco Arteaga Pediatric Surgery Department. January 2014- December 2018

BACKGROUND: Congenital urinary tract abnormalities are diverse, and can affect different structures of this system. The importance of early diagnosis is avoiding kidney damage in the children. The aim of this study was to identify the frequency of urinary tract abnormalities in pediatric patients, in Hospital José Carrasco Arteaga Pediatric Surgery Department, from January 2014 to December 2018. METHODS: Descriptive cross-sectional study. The universe were 230 pediatric patients with confirmed diagnosis of congenital urinary tract abnormalities, from Hospital José Carrasco Arteaga Pediatric Surgery Department, from January 2014 to December 2018. Incomplete medical charts were excluded (n=47 children). 183 children were part of the this study. . La malformación más frecuente fue la hidronefrosis transitoria 70%, seguida de reflujo Vesico-Ureteral (RVU) 16.39% (n=30), estenosis pieloureteral 5.46% (n=10), megauréter 6.55% (n=12) y displasia renal 1.63% (n=3). RESULTS: The frequency of urological abnormalities was 2.73% (n = 183), predominately infants with 56%, and 57% male. 26.78% presented with symptoms related to urinary tract infection. Ultrasound was performed in 95% of the children, urethrocistography in 55% and renal scintigraphy in 31%. Prenatal findings were found in 34.97%. The most frequent abnormality was transient hydronephrosis (70%), followed up by vesico-ureteral reflux (VUR) 16.39% (n = 30), pyeloureteral stenosis 5.46% (n = 10), megaureter 6.55% (n = 12) and renal dysplasia 1.63% (n = 3). CONCLUSION: Urological malformations are common between genetic abnormalities, most of them are asymptomatic; locally due to the low rate of prenatal diagnosis, they are diagnosed in between 24 months of age. Transient hydronephrosis is the most frequent abnormality. Urinary tract infections are commonly the starting line in this groups of patients; when malformations are suspected, ultrasound is always suitable.

Weigert-Meyer Law Violation with Lower Pole Obstruction and Ectopia

Duplication of the collecting system is the most common congenital abnormality of the upper urinary tract (0.8-2%), with unilateral duplication more common than bilateral [1-4]. In complete duplication, ureters typically follow the Weigert-Meyer rule of the upper pole inserting caudomedial (may be obstructed) and the lower pole inserting craniolateral (may reflux) in the bladder. Very rarely is there deviation from this pattern. Few cases of uncrossed double ureters with lower pole dysplasia, ureterocele, or ectopia have been reported [5-8]. We report a breach in the law with a case of an asymptomatic 1-month old new-born male with lower pole ureteral ectopia and obstruction. We discuss the importance of thorough work up with emphasis on differential diagnoses and care team-based decisions in the evaluation of paediatric hydronephrosis.

Validity of urine neutrophile gelatinase-associated lipocalin in children with primary vesicoureteral reflux.

Vesicoureteral reflux (VUR) is the most common congenital urinary tract abnormality in children. The objective of this study was to evaluate the diagnostic value of urine neutrophil gelatinase-associated lipocalin (NGAL) in children with primary vesicoureteral reflux (VUR). A total of 69 patients were evaluated in 2 groups with (32) and without (37) VUR. Patients with secondary VUR, infectious or inflammatory disorders, obstructive uropathies, and acute or chronic kidney disease were excluded. Urine NGAL level was measured by ELISA kit. Mean age of children with VUR was 36.84 ± 28.16, compared to those without VUR 32.32 ± 29.08, with no significant difference (p = 0.51). Mean urine NGAL (p = 0.012) and urine NGAL/Cr (p = 0.003) were higher in patients with VUR. In addition, urine NGAL/Cr increased significantly in patients with decreased parenchymal function, compared to those with normal DMSA scan. Using the cutoff value of 0.888, urine NGAL had 84% sensitivity and 81% specificity for diagnosis of VUR. Based on AUC (0.86), urine NGAL had acceptable diagnostic accuracy in children with VUR. The results of this study support the evidence that urine NGAL/Cr is a sensitive, specific and accurate biomarker for diagnosis of children with primary VUR.

Clinical Characteristics of Ureteral Duplication in Children

Purpose Ureteral duplication is a relatively common congenital urinary tract abnormality that can be associated with various clinical problems such as vesicoureteral reflux (VUR), hydronephrosis, and ectopic ureters. The purpose of this study was to analyze the clinical characteristics of pediatric patients with recently diagnosed ureteral duplication and to identify any differences from those described in previous reports. Methods We retrospectively reviewed the clinical characteristics and course of pediatric patients who were diagnosed with ureteral duplication between January 2008 and June 2017. Results A total of 32 pediatric patients were diagnosed with ureteral duplication during the study period. The male to female ratio was 1:2.2. Twenty-seven patients (84.4%) were first diagnosed with ureteral duplication at less than 3 months of age, and 26 (81.3%) were first diagnosed by prenatal ultrasonography. Four of the 32 patients were diagnosed with bilateral ureteral duplication, for a total of 36 occurrences of ureteral duplication. In 17 occurrences of complete ureteral duplication (47.2%), other urinary tract anomalies were also found; namely, ureterocele (7), VUR (11), and ectopic ureter (5). However, none of the patients with incomplete ureteral duplication had ureterocele or VUR. Conclusions With the advent of routine prenatal ultrasound, ureteral duplication is being diagnosed earlier than was previously possible, enabling timely treatment of the various accompanying urinary tract anomalies. Multicenter studies are needed to establish guidelines for standardized evaluation and treatment of ureteral duplication. Key words: Ureter, Vesicoureteral reflux, Children

Ultrasound evidence of bladder outlet obstruction secondary to lichen sclerosus et atrophicus in boys (balanitis xerotica obliterans)

BackgroundLichen sclerosus (LS), (balanitis xerotica obliterans), causes pathological phimosis. Many boys present with obstructive symptoms, the cause is usually obvious on examination so ultrasound scans (USS) of the urinary tract are not routinely indicated. We review a series of abnormal USS in boys with LS. MethodsRetrospective note review for boys undergoing surgical treatment for LS between 2000 and 2017. Seventy-eight boys had a USS prior to surgery, those with abnormal USS form the study population. Boys with neuropathic bladder or congenital urinary tract abnormalities were excluded. ResultsNineteen of 78 boys (24%), mean age 9 years, were included. Seventeen had obstructive symptoms, 13 had culture proven UTIs, 12 had new onset incontinence. On USS 3 (17%) had acute retention, 8 (78%) had an isolated post-void residual volume (PVR) >10% of estimated bladder capacity (EBC); 3 had bladder wall thickening +/− PVR >10%, 5 had upper tract changes. Symptoms resolved with successful treatment of LS. Six boys had post treatment USS, abnormalities resolved in 5. ConclusionsClinicians should consider LS in boys presenting with UTIs, new onset incontinence and obstructive urinary tract symptoms. Routine USS are not indicated though should be considered in those with an atypical history or examination. Type of StudyCase Series. Level of EvidenceLevel 4.

Comparison of open, laparoscopic and robot-assisted pyeloplasty for pelviureteric junction obstruction in adult patients.

Ureteropelvic junction obstruction (UPJO) is a frequently found congenital abnormality of the upper urinary tract treated with pyeloplasty. We hereby report a study to compare open pyeloplasty (OP), laparoscopic pyeloplasty (LP) and robotic assisted pyeloplasty (RAP) for UPJO in terms of functional and perioperative outcomes. 102 patients who underwent Anderson-Hynes dismembered pyeloplasty for UPJO were divided into three groups based on type of surgical techniques utilized as follows: OP (Group A; n=34), LP (Group B; n=34), and RAP (Group C; n=34). Preoperative, intraoperative and postoperative data were recorded. The mean operative time was significantly more in the Group B (187.76 min) than the Group A (132.06±30.1 min) and Group C (136.76 ±25.1 min) (p<.001). Mean blood loss was more in OP group 86.47 ±29. 35 ml versus 42.94±20. 77 ml in RAP and 45.59 ±20. 3 ml in the LP group (p< .001). The LP was found to be much tiring. Mean surgeon fatigue index (SFI) calculated was 7±1.1 in the LP group compared to 4.12±1.1 in RAP group and the difference was statistically significant (p< .001). Average VAS score in the first 2 days postoperatively was 6.66±1.58 in the OP group compared to 4.29±1.16 in RAP group and 4.29±1.31 in the LP group (p <0.001). Pyeloplasty has a similar success rate and efficacy irrespective of the technique utilized. RAP improves the surgeons QOL (quality of life) and the fatigue scores, which is useful for surgeon longevity. RAP has become widely favorite and can be considered the approach of choice in the management of UPJO wherever infrastructure and finances allow.

Severe hypertension in children at a central referral hospital in KwaZulu-Natal Province, South Africa

Background . Hypertension (HPT) is often underdiagnosed in children, although significant morbidity and mortality arises from hypertensive target organ damage and hypertensive crises. Objectives . To determine the prevalence, complications and causes of severe HPT in children 12 years old at a central hospital. Methods . Hospital records of children 12 years old with severe HPT (stage 2 and higher) from 2005 to 2014 were reviewed. Demographics, nutritional status, causes, HIV status, presence of target organ damage and treatment were analysed. Results . Of 821 children admitted to the paediatric nephrology unit, 152 (18.5%) children had severe HPT, with a mean age of 6.3 years; 86 (57%) were boys. A total of 28 (19%) were HIV-positive, and 19 (68%) were treatment naive. Kidney disease accounted for 82% of cases, 46 (30%) having steroid-resistant nephrotic syndrome, 22 (14%) HIV-associated nephropathy, 19 (13%) glomerulonephritis, 21 (14%) congenital urinary tract abnormalities and 17 (11%) other renal causes. Renovascular causes accounted for 12 (8%) cases. Of these 12, 7 (58%) had left ventricular hypertrophy (LVH), compared with 10/125 (8%) who had other forms of kidney disease ( p <0.023). Hypertensive crises occurred in 28 (18%) patients, and were significantly more common in children with HPT secondary to renovascular causes than renal causes ( p =0.001). Conclusion. Renal diseases were the most common cause of severe HPT in children. Hypertensive crises, retinopathy and LVH are common in renovascular HPT.

Significance of third trimester ultrasound in detecting congenital abnormalities of kidney and urinary tract—a prospective study

Antenatal hydronephrosis is defined as dilatation of the renal pelvis with or without dilatation of calyces in the developing fetus. Although second trimester scan is more sensitive in detecting congenital abnormalities of kidney and urinary tract (CAKUT), it has been suggested that the third trimester scan is more predictive of postnatal outcome. This study aims to determine the incidence of antenatal hydronephrosis at our institution and the significance of third trimester scan in detecting CAKUT postnatally. It is a prospective observational study. During the 3-year study period from June 2013 to May 2016, all cases of antenatal hydronephrosis, defined as renal pelvic diameter (RPD) ≥4mm in the second trimester and ≥7mm in the third trimester scan, diagnosed in the fetal medicine unit of our hospital, were included and were followed up postnatally for 6 months. In the fetal medicine unit, 32,443 women were screened for anomalies, and hydronephrosis was detected in 269 cases. Incidence of antenatal hydronephrosis was observed to be 0.83% in our institution. In second trimester scan, of 80 cases with the left hydronephrosis, only 22 (27.5%) had postnatal CAKUT and of 70 cases with the right hydronephrosis, 18 (25.7%) had CAKUT. In the third trimester scan, it was observed that with RPD >10mm, on the left side hydronephrosis, 87% had CAKUT on postnatal scan, and 85% with the right hydronephrosis had CAKUT. Sixty percent cases of hydronephrosis detected in the second trimester scan resolve in utero. In the third trimester scan with RPD <10mm, the possibility of postnatal CAKUT is 23%, whereas if RPD is>10mm, then the possibility of postnatal CAKUT is 86%.

Whole Genome Sequencing of a Rat Model of Congenital Abnormalities of Kidney and Urinary Tract

The HSRA rat is a model of congenital abnormalities of the kidney and urogenital tract (CAKUT), with offspring exhibiting renal agenesis and other urogenital abnormalities. Our laboratory has used this model to investigate the role of nephron number in susceptibility to develop chronic kidney disease as offspring are born with a single kidney (HSRA‐S; 50%–75%) or with two‐kidneys (HSRA‐C, 25–50%). The model provides a unique advantage by allowing to directly compare congenital one‐kidney animals (~20,400 nephrons, less than comparable kidney), nephrectomized two‐kidney animals (HSRA‐UNX, ~25,100 nephrons) and two‐kidney littermates (~50,000 nephrons) in the same model, a comparison not possible in models that utilize nephrectomy. HSRA‐S rats are highly susceptible to the hypertension induced kidney injury (DOCA/1% NaCl) compared to HSRA‐UNX, suggesting that even slight nephron differences can be an important driver of elevated blood pressure, hastening kidney injury and accelerating decline in kidney function. The HSRA rat was selected and inbred (&gt;20 generation) from a single pair of outbred heterogeneous stock (HS) rats that exhibited a high incidence of CAKUT (~50% versus 1% in HS population). The HS model was originally developed from 8 inbred strains (ACI, BN, BUF, F344, M520, MR, WKY, and WN). Thus, the genetic make‐up of the HSRA model is a mosaic of these 8 inbred strains. Interestingly, the ACI progenitor of the HS model exhibits CAKUT in 10–15% of offspring with the genetic cause being attributed to presence of a long‐term repeat (LTR) within exon 1 of c‐Kit gene. Our hypothesis is that the HSRA and ACI share this common genetic cause, but other genes in the HSRA genome contribute to increase penetrance of CAKUT (75% vs 15% in ACI). To facilitate genetic studies and better characterize the model, the whole genome of the HSRA was sequenced to a depth of 50X using the Illumina NextSeq500 platform. Sequence alignment and annotation [BN reference genome (UCSC Rn5)] identified 4,692,623 SNPs and 1,438,131 INDELs. Sequence analysis of fifteen recessive and 25 dominant genes linked to CAKUT in humans identified three genes (Frem2, Hnf1b, and Six5) predicted to have high‐impact variation that could play a role in the observed CAKUT. Future studies will involve performing a linkage analysis using a segregating population [F2(HSRA x ACI)] to map the QTL/location of modifier genes, which in combination with genome sequence and annotation data will include/exclude known genes as well as identify additional candidate genes linked to CAKUT. In summary, the identification of specific gene defects, modifier genes, and signaling pathways that lead to loss of one kidney and nephron deficiency will provide a mechanistic link between the solitary kidney genotype and the development of kidney dysfunction exhibited by the HSRA rat.Support or Funding InformationThe whole genome sequencing performed through the UMMC Molecular and Genomics Facility is supported, in part, by funds from the NIGMS, including P20GM103476, P20GM104357, and P20GM121334.This abstract is from the Experimental Biology 2019 Meeting. There is no full text article associated with this abstract published in The FASEB Journal.

Prenatal diagnosis of multicystic dysplastic kidney: about 18 cases

La dysplasie rénale multikystique (DRMK) correspond à l'expression clinique la plus fréquente des “Congenital Abnormalities of Kidney and Urinary Tract (CAKUT)”. Son étiopathogénie reste discutée et l'hypothèse obstructive est généralement admise. L'échographie obstétricale représente le moyen de référence pour son diagnostic anténatal et qui nécessitera la recherche d'autres malformations associées. Une prise en charge anténatale repose principalement sur la surveillance échographique de l'évolution de la grossesse et de la pathologie, de l'apparition d'autres anomalies et de la quantité du liquide amniotique. L'objectif est de rapporter l'expérience du Service de Gynécologie-Obstétrique 2 du CHU Hassan II de Fès afin de: préciser l'épidémiologie de la DRMK; rapporter la pertinence de l'échographie obstétricale dans le diagnostic positif et étiologique; décrire les aspects échographiques; établir un suivi des grossesses et évaluer l'évolution de la pathologie; écrire les modalités de surveillance et de prise en charge anténatales; rapporter l'évolution en postnatal et établir un pronostic.

Detection of Vesicoureteral Reflux Using Electrical Impedance Tomography.

The purpose of this study is to detect vesicoureteral reflux (VUR) noninvasively using an electrical impedance tomography (EIT). VUR is characterized by the backflow of urine from the bladder to the kidneys. Using porcine models, small quantities of a solution mimicking the electrical properties of urine were infused into each ureter. EIT measurements were taken before, during and after the infusion using electrodes positioned around the abdomen. The collected data from 116 experiments were then processed and time-difference images reconstructed. Objective VUR detection was determined through statistical analysis of the mean change in the voltage signals and EIT image pixel intensities. Unilateral VUR was successfully detected in 94.83% of all mean voltage signals and in over 98.28% of the reconstructed images. The images showed strong visual contrast between the region of interest and the background. In animal models, EIT has the capability to detect reflux in the kidneys with high accuracy. The results show promise for EIT to be used for screening of VUR in children. VUR is the most common congenital urinary tract abnormality in children. The condition predisposes children to urinary tract infections and kidney damage. The current gold standard diagnostic test, a voiding cystourethrogram, is invasive and uses ionizing radiation; therefore, there is a need for new tools for identifying VUR in children. This study presents a noninvasive method to detect VUR in animal models, illustrating the potential for EIT as a screening tool in clinical scenarios.

Cystoscopy Findings in Females with Recurrent Urinary Tract Infection

Objectives: Recurrent urinary tract infection is common in adult females. This study aimed at identifying lower urinary tract abnormalities in females with recurrent urinary tract infections based on cystoscopy findings and evaluating the diagnostic yield of cystoscopy in these patients. Methods: In this cross-sectional study, females (above 18 years) with recurrent urinary tract infection, who were referred to the urology clinic of Kerman University of Medical Sciences, Iran, in 2014 to 2016, were evaluated. After collecting demographic information, urine culture and urinary tract ultrasonography were performed for all patients; those with gross or microscopic hematuria, abnormality in imaging, neurogenic bladder, genitourinary cancer, and congenital urinary tract abnormality were excluded. Eligible patients underwent urethrocystoscopy, and the findings were recorded. Associations between clinical risk factors and abnormal findings were analyzed. Results: Of the 88 patients (mean age of 48 years), who underwent urethrocystoscopy, urinary tract abnormalities were reported in 36 (40.9%) patients, among whom 19 (21.5%) and 17 (19.4%) had clinically significant and non-significant abnormalities, respectively. Significant abnormalities included 14 cases of urethral stricture, one case of mesh erosion into the urethra, one case of periurethral gland abscess, two cases of bladder diverticulum, and one case of refluxing ureteral orifice. Conclusions: Although the majority of urinary tract abnormalities among females with recurrent urinary tract infection could be identified via imaging modalities, yet, it seems that cystoscopy is an appropriate method for the diagnosis of urinary tract disorders in some cases, especially in patients, who are unresponsive to common treatment strategies.