Congenital Anomalies Of Urinary Tract Research Articles

Interkinetic nuclear movements promote apical expansion in pseudostratified epithelia at the expense of apicobasal elongation.

Pseudostratified epithelia (PSE) are a common type of columnar epithelia found in a wealth of embryonic and adult tissues such as ectodermal placodes, the trachea, the ureter, the gut and the neuroepithelium. PSE are characterized by the choreographed displacement of cells' nuclei along the apicobasal axis according to phases of their cell cycle. Such movements, called interkinetic movements (INM), have been proposed to influence tissue expansion and shape and suggested as culprit in several congenital diseases such as CAKUT (Congenital anomalies of kidney and urinary tract) and esophageal atresia. INM rely on cytoskeleton dynamics just as adhesion, contractility and mitosis do. Therefore, long term impairment of INM without affecting proliferation and adhesion is currently technically unachievable. Here we bypassed this hurdle by generating a 2D agent-based model of a proliferating PSE and compared its output to the growth of the chick neuroepithelium to assess the interplay between INM and these other important cell processes during growth of a PSE. We found that INM directly generates apical expansion and apical nuclear crowding. In addition, our data strongly suggest that apicobasal elongation of cells is not an emerging property of a proliferative PSE but rather requires a specific elongation program. We then discuss how such program might functionally link INM, tissue growth and differentiation.

Long-term Outcome of Children with Ureteropelvic Junction Obstruction: Thirty-one years’ Experience at a Tertiary Teaching Hospital in South Africa.

B ackground and Aim: Being the most common pathologic cause of hydronephrosis in children, we characterized and evaluated the long-term outcome of Ureteropelvic junction obstruction (UPJO) at a tertiary hospital in South Africa Methods: Children confirmed to have UPJO between 1985 and 2016 were characterized based on demographic and baseline clinical data. Long term outcomes were need for surgical intervention, loss to follow up rates, anthropometric measures, renal outcomes (Glomerular Filtration Rate and Blood pressure). Results: Of 107 children, 74.8% were male, 47% had hydronephrosis identified antenatally, 47.7% had the left kidney unilaterally affected, 31.8% had an additional urogenital anomaly, 19.6% presented with an abdominal mass, and 37.4% had a urinary tract infection. On enrolment, 54.2% and 30.8% had normal systolic and diastolic BP, 59.8% had normal BMI for age and 72% had normal length/height for age. The median follow-up time was 35(9.0 - 191.0) months, 65% had surgery with a median time to surgery of 2 (0 - 6.8) months. Children lost to follow-up had a higher proportion of extrinsic causes of UPJO (12.0% vs. 0%, P =0.041) and other urogenital anomalies (38.7% vs. 15.6%, P=0.019). There was no significant effect of time or surgical intervention on mean BMI and height for age, blood pressure percentile and eGFR for age. Conclusion: In our setting, UPJO has an early presentation, with an early time to surgery. Long-term outcome is favorable, but loss to follow-up presents a significant drawback that needs to be addressed. Keywords: Ureter; Hypertension; Congenital anomalies of kidney and urinary tract; CAKUT; Urological Diseases; Hydronephrosis.

Clinical Spectrum of Congenital Anomalies of Kidney and Urinary Tract in Children

To evaluate the clinical spectrum and patterns of clinical presentation in congenital anomalies of kidney and urinary tract. We enrolled 307 consecutively presenting children with congenital anomalies of kidney and urinary tract at the pediatric nephrology clinic. Patients were evaluated clinically, with serum biochemistry, appropriate imaging and radionuclide scans. The most common anomaly was primary vesicoureteric reflux (VUR) (87, 27.3%), followed by pelviureteral junction obstruction (PUJO) (62,20.1%), multicystic dysplastic kidney (51 16.6%), non-obstructive hydronephrosis (32, 10.4%) and posterior urethral valves (PUV) (23, 7.4%). 247 (80.4%) anomalies had been identified during the antenatal period. Another 33 (10.7%) were diagnosed during evaluation of urinary tract infection, and 21 (6.8%) during evaluation for hypertension at presentation. Obstructive anomalies presented earlier than non-obstructive (7 (3, 22.5) vs 10 (4, 24) mo: (P=0.01)). The median (IQR) ages of presentation for children with PUV (n=23), VUR (n=87) and PUJO (n=62) were 4 (2, 14) mo, 10 (5, 27) mo, and 7 (3, 22.5) mo, respectively. Nine (2.9%) children had extrarenal manifestations. The median age at clinical presentation for various subgroups of anomalies indicates delayed referral. We emphasize the need for prompt referral in order to initiate appropriate therapeutic strategies in children with congenital anomalies of kidney and urinary tract.

SAT-325 RELATIONSHIP AND PATTERN BETWEEN AMBULATORY BLOOD PRESSURE MONITORING PARAMETERS AND ESTIMATED GLOMERULAR FILTRATION RATE IN CHILDREN WITH GLOMERULAR AND NON-GLOMERULAR CONDITIONS

Ambulatory blood pressure monitoring (ABPM) is an important tool for evaluation of blood pressure (BP) among high risk children including those with renal diseases. Our study aimed to describe and compare the ABPM parameters between children with glomerular and non-glomerular renal conditions, and explore the relationship between the various ABPM parameters and the estimated glomerular filtration (eGFR). We performed a cross-sectional review of the office BP records and ABPM reports of children followed up in the paediatric nephrology clinic of Queen Elizabeth Hospital, Hong Kong from year 2013-2017. ABPM reports with <70% success rate were excluded. Among subjects with ≥1 ABPM reports, only the first available report was included for analysis. The renal diagnosis was categorized into glomerular diseases and non-glomerular disease comprising congenital anomalies of kidney and urinary tract (CAKUT), cystic kidney diseases, renovascular hypertension, neurogenic bladder / bladder dysfunction and other conditions. Altogether there were 67 patients included in the final analysis. The median age (interquartile range) of the cohort was 14.5 (5.4) years and the median BMI was 19.3 (5.0) kg/m2. Glomerular diseases accounted for 23.9% of all renal conditions and the median eGFR of the whole cohort was 96.3 (34.6) ml/min/1.73m (Table 1)2. There were 62.7% of subjects having ABPM hypertension (ABPM systolic or diastolic hypertension in either wake or sleep periods), and 40.3% of subjects were non-dippers (nocturnal dipping <10%). Office BP hypertension was found in 35.9% of subjects and 25% of subjects had masked hypertension. Only 16.7% of subjects with ABPM hypertension were receiving anti-hypertensive medications. The baseline characteristics of subjects with glomerular and non-glomerular diseases showed no significant difference, and the ABPM parameters in both wake and sleep periods were comparable between the two groups (Table 2). Most subjects with non-glomerular diagnoses had no hypertension (35.4%), whereas ambulatory hypertension (both office BP hypertension and ABPM hypertension) was the commonest BP category (37.5%) among those with glomerular conditions (p=0.934) (Figure 1). The median eGFR of children with glomerular and non-glomerular diseases showed no significant difference (p=0.538). All systolic or diastolic BP indices and BP loads in wake and sleep periods showed a significantly inverse relationship with the eGFR among children with glomerular diseases (Table 3). The relationship was stronger for glomerular than non-glomerular conditions. A lower eGFR among children with glomerular disease could be observed in those having wake or sleep ABPM hypertension (systolic or diastolic) or ABPM hypertension, as well as non-dippers. And a significant difference could be found among those with wake period diastolic hypertension (p=0.036) and sleep period systolic hypertension (p=0.044). Masked hypertension and non-dippers were common among children with renal conditions and most children with ABPM hypertension were not receiving anti-hypertensives. Both the wake and sleep period ABPM parameters demonstrated a negative correlation with eGFR among children having glomerular diseases at a relatively normal eGFR. The results indicated that regular ABPM should be performed for children with renal conditions, even without chronic kidney disease.

Лапароскопическая хирургия опухолей подковообразной почки. Результаты первых 19 операций

Although horseshoe kidney (HSK) is the most common congenital anomaly of the upper urinary tract, renal cell cancer (RCC) in HSK develops extremely rarely. Until 2012 y. there were less than 200 cases of RCC in HSK published in PubMed. Only five cases of laparoscopic partial nephrectomies and some cases of heminephrectomies have been described in PubMed. To conduct a multicenter retrospective analysis of laparoscopic surgery for tumors in HSK. From January 2013 to December 2018 a total of 19 conventional laparoscopic interventions were performed in patients with RCC in HSK, including 1 isthmusectomy, 5 partial nephrectomies and 13 heminefrectomies. In addition, 16 divisions of isthmus were done in 15 patients. The video describing our operation technique is available on: http://youtu.be/nk-WlbjNtIs . There were no conversions to open surgery and mortality as well as intra- and postoperative complications of Clavien grade 3 or higher. Warm ischemia time during partial nephrectomy didnt exceed 19 minutes. Operative time ranged from 110 to 270 min, while max estimated blood loss was 400 ml. All patients were followed for 6 month and no case of disease recurrence or progression was noted. The small number of laparoscopic interventions in patients with RCC in HSK doesnt allow to carry out a proper statistical analysis and draw certain conclusions. We presented the largest experience available in the literature and our results demonstrate the efficacy and safety of conventional laparoscopic technologies in the treatment of RCC in HSK.

Risk factors for development of urinary tract infection in children with nephrolithiasis.

Nephrolithiasis is one of the causes of urinary tract infection (UTI). In this study, we investigated risk factors for UTI in children with nephrolithiasis. The data from the patients with nephrolithiasis were evaluated in this retrospective follow-up study. Patients with a history of UTI before admission and congenital anomaly of kidney or urinary tract were excluded. The patients were divided into two groups: patients with UTI (recurrent UTI and single UTI) and patients without UTI. A total of 599 patients were included in this study. UTI occurred in 181 (30.2%) patients. There was a positive association between the size of stone and UTI (odds ratio (OR): 1.355, P = 0.007). Receiver operating characteristic curve analysis showed that the cut-off value of the size of stone for UTI was 5.3 mm, with a sensitivity of 74.9% and a specificity of 66.1% (area under the curve: 0.572 ± 0.028, P = 0.013). The presence of a metabolic risk factor and age at diagnosis under 2 years were significantly associated with both UTI and recurrence of UTI (OR: 2.272, P = 0.021, OR: 1.809, P = 0.028, respectively, for metabolic risk factor; OR: 1.212, P = 0.041, OR: 1.122, P = 0.046, respectively, for age at diagnosis under 2 years). Hypercalciuria was significantly associated with the recurrence of UTI (OR: 1.854, P = 0.017). The age at diagnosis, the presence of a metabolic risk factor and size of stone are significant risk factors for UTI in children with nephrolithiasis. The patients with idiopathic hypercalciuria, metabolic risk factor and age at diagnosis under 2 years have increased risk of recurrence of UTI.

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

Mutations in genes encoding components of the intraflagellar transport (IFT) complexes have previously been associated with a spectrum of diseases collectively termed ciliopathies. Ciliopathies relate to defects in the formation or function of the cilium, a sensory or motile organelle present on the surface of most cell types. IFT52 is a key component of the IFT-B complex and ensures the interaction of the two subcomplexes, IFT-B1 and IFT-B2. Here, we report novel IFT52 biallelic mutations in cases with a short-rib thoracic dysplasia (SRTD) or a congenital anomaly of kidney and urinary tract (CAKUT). Combining in vitro and in vivo studies in zebrafish, we showed that SRTD-associated missense mutation impairs IFT-B complex assembly and IFT-B2 ciliary localization, resulting in decreased cilia length. In comparison, CAKUT-associated missense mutation has a mild pathogenicity, thus explaining the lack of skeletal defects in CAKUT case. In parallel, we demonstrated that the previously reported homozygous nonsense IFT52 mutation associated with Sensenbrenner syndrome [Girisha et al. (2016) A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. Clin. Genet., 90, 536-539] leads to exon skipping and results in a partially functional protein. Finally, our work uncovered a novel role for IFT52 in microtubule network regulation. We showed that IFT52 interacts and partially co-localized with centrin at the distal end of centrioles where it is involved in its recruitment and/or maintenance. Alteration of this function likely contributes to centriole splitting observed in Ift52-/- cells. Altogether, our findings allow a better comprehensive genotype-phenotype correlation among IFT52-related cases and revealed a novel, extra-ciliary role for IFT52, i.e. disruption may contribute to pathophysiological mechanisms.

OR18-6 ADCY2 CNVs are Associated With Congenital Genitourinary Anomalies

Genitourinary (GU) anomalies are among the most common categories of birth defects and consist of disorders of sexual differentiation and congenital anomalies of kidney and urinary tract (CAKUT). Disorders of sexual differentiation include hypospadias (1 in 125 male births), cryptorchidism (3-6% of full term male births) and ambiguous genitalia (1:2000-1:4000 births). Though the prevalence of GU anomalies is high, their causes are poorly understood. A genetic change contributing to disease phenotypes is a copy number variant (CNV; a micro-deletion or micro-duplication of a small chromosomal region). When CNVs occur in dosage-sensitive genes, a disease phenotype can arise. Using array comparative genomic hybridization (aCGH), adenylyl cyclase 2 (ADCY2) CNVs were identified in a patient with hypospadias and a patient with ambiguous genitalia. ADCY2 is a member of the adenylyl cyclase class III family of genes that are responsible for converting ATP into cAMP. cAMP, is involved in several essential processes required for GU development and function including testicular descent and androgen production. Through a retrospective literature and database (DECIPHER, ICSA, ClinVar), nine patients with GU abnormalities and ADCY2 CNVs were identified. These GU anomalies consisted of upper and lower tract defects. The incidence of ADCY2 CNVs was determined by qPCR in a cohort of 378 GU abnormal patients and 45 control patients. ADCY2 CNVs (duplications) were present in 1.59% of patients with GU anomalies and 0% of control patients. The incidence of ADCY2 CNVs in the general population (Database of genomic variants) is 0.65%. Expression of ADCY2 in the GU tract was localized to renal tubules, bladder muscle, urethra, and interstitial cells of the testis with the highest expression in the testes. This expression pattern suggests a role for ADCY2 in steroid biosynthesis. When Adcy2 was overexpressed in the murine Leydig cell line MLTC-,1 cAMP compared to control MLTC-1 cells (4342.20 pmol/µl vs 2231.59 pmol/µl, two-way ANOVA <0.05), steroidogenic acute regulatory factor (StAR) expression and testosterone (52.33 ng/dL vs. undetectable, two-way ANOVA <0.05) were increased. Notably, the increase in testosterone production occurred independent of human chorionic gonadotropin (hCG) stimulation suggesting a ligand-independent, constitutively active system. In contrast to control cells transfected with an empty vector, hCG administration to ADCY2 overexpressing cells induced a slight additional increase in testosterone production. The lack of a robust response to hCG led to examination of the luteinizing hormone receptor (LHR). LHR was downregulated and internalized in Adcy2 overexpressing cells upon hCG stimulus. These findings suggest that microduplications in humans encompassing ADCY2 may contributed to lower tract genitourinary birth defects.

A Predictive Model of Postnatal Surgical Intervention in Children With Prenatally Detected Congenital Anomalies of the Kidney and Urinary Tract.

The aim of this study was to identify predictive factors and develop a model to assess individualized risk of postnatal surgical intervention in patients with antenatal hydronephrosis. This is a retrospective cohort study of 694 infants with prenatally detected congenital anomalies of kidney and urinary tract with a median follow-up time of 37 months. The main event of interest was postnatal surgical intervention. A predictive model was developed using Cox model with internal validation by bootstrap technique. Of 694 patients, 164 (24%) infants underwent surgical intervention in a median age of 7.8 months. Predictors of the surgical intervention in the model were: baseline glomerular filtration rate, associated hydronephrosis, presence of renal damage and the severity of renal pelvic dilatation. The optimism corrected c statistic for the model was 0.84 (95%CI, 0.82–0.87). The predictive model may contribute to identify infants at high risk for surgical intervention. Further studies are necessary to validate the model in patients from other settings.

Congenital Anomalies of Kidney and Urinary Tract (CAKUT): Single Center Experience for 14 Years

GIRIS ve AMAC: Bobrek ve idrar yollarinin konjenital anomalileri (DBUSA) genellikle asemptomatiktir ve cesitli toplumlarda son donem bobrek yetmezliginin% 30-60' inin sebebidir. CalismamizdA DBUSA'li hastalarin uzun sureli epidemiyolojik, demografik ve klinik ozelliklerini paylasmayi amacladik. YONTEM ve GERECLER: Calismaya, Nisan 2002-Ocak 2016 tarihleri arasinda Kocaeli Universitesi Tip Fakultesi Pediatrik Nefroloji Anabilim Dali tarafindan takip edilen, 0-18 yas arasi 11725 hastadan toplam 4625 DBUSA hastasi dahil edildi. Toplamda DBUSA olan 4625 hasta teshis edildi. Gecici hidronefroz tespit edilen 4164 hasta calismadan cikarildi. Calisilan 461 hastanin kayitlari retrospektif olarak degerlendirilmis ve SPSS 20.0 programi ile analiz edilmistir. BULGULAR: DBUSA sikligi% 3,9 idi. Olgularin erkek / kadin orani % 48,8 (225) /% 51,2 (236) idi. VUR % 31,5 (145) hastada tespit edildi, bunlarin % 71,7 (104) kadin ve% 28,3 (41) erkekti. Hidronefroz, 75 (% 162) hastada mevcuttu. Bu hastalarin antenatal tani orani % 30,7 idi (23). UPJ obstruksiyonu 26 (% 70,2) ve VUR 21 (% 14,4) hidronefroz ile iliskili en sik konjenital bobrek ve uriner sistem anomalileri idi. Olgularin % 50,5 (233) 'unde idrar yolu enfeksiyonu oykusu vardi. VUR tanisi olan hastalarda bu siklik % 90,3 olarak saptandi. Kronik bobrek hastaligi 8 hastada mevcuttu. Bu hastalarin 4'unde (% 50) altta yatan neden VUR idi. TARTISMA ve SONUC: Son yillarda, gecici hidronefroz prevalansi antenatal USG'nin yaygin kullanimi ile artmistir. Bu nedenle uzun donemde kronik bobrek hastaligi riski yuksek olan DBUSA'li hastalar gecici hidronefrozdan ayrilmali ve ucuncu basamak referans merkezlerinde pediatrik nefroloji ve pediatrik uroloji ile takip edilmelidir.

Congenital Anomalies of Kidney and Urinary Tract (CAKUT): Single Center Experience for 14 Years

Congenital Anomalies of Kidney and Urinary Tract (CAKUT): Single Center Experience for 14 Years

Outcome of posterior urethral valve in 64 children: a single center's 22-year experience.

Posterior urethral valve (PUV) is the most serious form of congenital anomalies of kidney and urinary tract (CAKUT) in boys with significant risk of progression to chronic kidney disease (CKD). We present our long-term results in children with PUV. Retrospective chart review of 113 children with PUV followed within the years of 1996-2018 was performed. Clinical, laboratory and epidemiologic parameters were analyzed for their impact on renal outcome. The median age of diagnosis was 1.00 month (1.00-132.00) and the median follow-up period was 70 months (60.00-216.00). Antenatal diagnosis was present in 33 patients (51.5%) mainly with bilateral hydronephrosis and oligohydramnios. The most common postnatal presentation was recurrent urinary tract infection (UTI) in 14 cases (21.9%) and incontinence in three cases (4.7%). Vesicoureteral-reflux (VUR) was present in 31 cases (48.4%). All patients had surgery and urinary diversion was needed in 18 (28.2%). Varying stages of chronic kidney disease (CKD) developed in 23 cases (35.9%) and rise in serum creatinine was especially prominent after the 4th year of follow-up. Of 23 CKD patients, seven (10.9%) were in ESRD and on dialysis. Mortality occurred in one (1.5%) patient. Hypertension, proteinuria and high initial serum creatinine (>1.28 mg/dL) were statistically significant risk factors for CKD, as expected. Surprisingly VUR and UTI did not show such a significant impact on CKD development. Antenatal detection was with significantly less risk for CKD. Our results confirm that PUV has a considerable risk for CKD development. Antenatal diagnosis, management of proteinuria and hypertension may modify this progression. But already injured kidneys still have a potential risk. The need for further research to evaluate the impact of any intervention on long term renal outcome is obvious.

One-year follow-up results of infants with antenatal hydronephrosis

Objection: Our purpose is to present the results of the one year- follow up of infants who were diagnosed with antenatal hydronephrosis. Methods: Infants (0-24 months) with diagnosis of antenatal hydronephrosis who were brought into pediatric nephrology outpatient clinics of our hospital were followed up according to the Turkish Pediatric Nephrology Society CAKUT (Congenital Anomalies of Kidney and Urinary Tract) Guidelines. Results: Ninety-three infants (64 males, 0.83 years, range 0.1-2.1 years) previously diagnosed as antenatal hydronephrosis received diagnosis of healthy infant (n=5; 5,4 %) mild (n=70; 75,3%), moderate (n=14; 15,1%), and severe (n=4; 4,3%) hydronephrosis. Voiding cystourethrogram (VCUG) was performed in 10 (10,7%) patients, 2 of them had unilateral grade 4 vesicoureteral reflux (VUR). MAG3 scan was performed in 8 (8,6%) patients, two of them had ureteropelvic junction obstruction, one of these patients had undergone pyeloplasty. After one year follow-up of 88 infants, 47 (53,4%) patients had normal, 23 (26.1%) patients had mild, 11 (12,5%) patients had moderate and 7 (8%) patients had severe hydronephrosis. Three cases (3,4%) progressed from moderate to severe disease. Conclusion: The most frequent cause of antenatal hydronephrosis among our patients was transient antenatal hydronephrosis. However follow-up of cases with a tendency to progress is important.

Outcomes of kidney transplants in pediatric patients with the vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, limb abnormalities association.

In this single-center retrospective study, we analyzed kidney transplant outcomes in nine pediatric patients with VACTERL [vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, limb abnormalities] association-making this the largest study of its kind. Of 743 pediatric kidney transplant recipients at our center (1980-2017), nine had documented diagnoses of VACTERL association. All nine had congenital anorectal malformations and renal anomalies, five had vertebral defects, and one had a bifid thumb and tracheoesophageal fistula. Renal anomalies included dysplasia (n=6), aplasia (n=3), and horseshoe kidney (n=2). Congenital lower urinary tract anomalies included neurogenic bladder (n=6), obstructive uropathy (n=4), anovesicular fistula (n=1), rectourethral fistula (n=1), and posterior urethral valves (n=1). Age at transplant ranged from 1.2 to 15years (mean, 7.3; standard deviation [SD], 5.5); 6 (67%) were male, and 3 (33%) were female; 6 (67%) had a living related donor, and 3 (33%) had a deceased donor. The overall graft survival rate was 78% (range, 1.5 to 25.2years; mean, 10.5; SD, 8.9). One month post-transplant, one recipient died with a functioning graft. At 3.7years post-transplant, one graft failed because of recurrent pyelonephritis. Post-transplant urologic complications included pyelonephritis (n=6), vesicoureteral reflux (n=5), and graft hydronephrosis (n=4). We conclude that pediatric patients with VACTERL association can be safely transplanted-careful patient selection with vigilance and intervention for pre- and post-transplant urologic complications is essential.

Developmental pathology of congenital kidney and urinary tract anomalies.

Congenital anomalies of the kidneys or lower urinary tract (CAKUT) are the most common causes of renal failure in children and account for 25% of end-stage renal disease in adults. The spectrum of anomalies includes renal agenesis; hypoplasia; dysplasia; supernumerary, ectopic or fused kidneys; duplication; ureteropelvic junction obstruction; primary megaureter or ureterovesical junction obstruction; vesicoureteral reflux; ureterocele; and posterior urethral valves. CAKUT originates from developmental defects and can occur in isolation or as part of other syndromes. In recent decades, along with better understanding of the pathological features of the human congenital urinary tract defects, researchers using animal models have provided valuable insights into the pathogenesis of these diseases. However, the genetic causes and etiology of many CAKUT cases remain unknown, presenting challenges in finding effective treatment. Here we provide an overview of the critical steps of normal development of the urinary system, followed by a description of the pathological features of major types of CAKUT with respect to developmental mechanisms of their etiology.

Functional magnetic resonance urography in infants: feasibility of a feed-and-sleep technique.

Functional magnetic resonance (MR) urography has been well established in the diagnostic workup of congenital anomalies of kidneys and urinary tract, though long acquisition time requires sedation or general anesthesia in infants. To evaluate the success rate of an optimized functional MR urography protocol in infants carried out in natural sleep. We retrospectively evaluated all functional MR urographies performed under general anesthesia or during natural sleep in infants younger than 1year between 2010 and 2017 and rated image quality in both cohorts using a 3-point Likert scale. We tested the analyzability of functional sequences using a free available software. We also calculated examination time. Finally, we compared examinations in natural sleep and those with general anesthesia using independent t-test for continuous data and Mann-Whitney U test for categorical data. Functional MR urography could be performed successfully during natural sleep in 38 of 42 (90%) infants younger than 10months. Four examinations were aborted before contrast medium was administrated. In the same period, 19 functional MR urographies were performed successfully under general anesthesia. Although image quality was significantly better in this group (P<0.0001), image quality was at least diagnostic in all finished examinations in natural sleep, and the functional analyzability was given in all completed examinations. There was a significant saving in examination time during natural sleep (P<0.001). Functional MR urography can be successfully performed in natural sleep in infants younger than 10months.

Congenital anomalies of urinary tract in the Population-based Registry of Valencia Region (Spain)

Congenital anomalies of urinary tract in the Population-based Registry of Valencia Region (Spain)

Spectral-Domain Optical Coherence Tomography for Determination of Retinal Thickness in Pediatric Patients with Mild-To-Moderate Chronic Kidney Disease: A Cross-Sectional Study

ABSTRACTObjective: Children with chronic kidney diseases (CKD) are at risk for neurological diseases at early adulthood. Spectral-domain optical coherence tomography (SD-OCT) of the retina is especially suitable for determination of intraretinal layer thickness. We wonder whether retinal thinning is already present in pediatric patients with mild-to-moderate CKD.Patients and Methods: Children (n = 15; 14.9 ± 2.4 years) with mild-to-moderate CKD (median eGFR of 95ml/min/1.73m2; range: 28–187ml/min/1.73m2) due to glomerulopathy, congenital anomalies of kidney and urinary tract (CAKUT), or haemolytic uremic syndrome (HUS) underwent a detailed ophthalmologic examination including high-resolution SD-OCT. Three OCT scans were obtained from the right eyes of all patients. Within each scan, retinal layers were separated and the mean thickness was determined at the foveal, parafoveal, and perifoveal area. The results were compared to those we obtained previously from healthy children.Results: At the parafoveal area, thickness (median, range) of the total retina (ALL), ganglion cell layer (GCL), and inner plexiform layer (IPL) were reduced compared to healthy volunteers (339µm, (288–361µm) vs. 348µm, (320–385µm); 49.8µm (30.5–56.6µm) vs. 53.5μm (49.5–60.5µm) and 41.0µm (29.4–43.7µm) vs. 43.46µm (39.5–46.3μm); each p < 0.05). The intraretinal thickness measurements at the foveal and perifoveal areas revealed no statistically significant differences between patients and controls.Conclusion: Distinct changes within the parafoveal area of the total retina, GCL, and IPL are present in children with mild-to-moderate CKD. Prospective studies are required to assess the clinical significance of our findings.

Congenital anomalies of urinary tract in the population-based registry of Valencia region (Spain), 2007-2015

Congenital anomalies of urinary tract in the population-based registry of Valencia region (Spain), 2007-2015

Retrospective study to identify risk factors for chronic kidney disease in children with congenital solitary functioning kidney detected by neonatal renal ultrasound screening

To evaluate the prognostic significance of factors frequently associated with a reduction in renal mass, such as prematurity, low birth weight, and congenital anomalies of kidney and urinary tract (CAKUT), in patients with solitary functioning kidney (SFK) and investigate signs of early renal injury due to glomerular hyperfiltration damage or dysplasia in the remaining kidney.Retrospective observational study of congenital SFK diagnosed and followed at a tertiary care hospital over a period of 10 years in which 32,900 newborns underwent routine neonatal abdominal ultrasound screening. We analyzed age at diagnosis, sex, gestational age, anthropometric measurements at birth and prenatal and neonatal ultrasound findings, in addition to follow-up data corresponding to imaging findings (ultrasound, micturating cystourethrography, dimercaptosuccinic acid renal, and scintigraphy), ipsilateral CAKUT, compensatory hypertrophy, and renal injury in the form of albuminuria, blood pressure, and estimated glomerular filtration rate (eGFR).In total, 128 congenital SFK cases were detected (1 per 257 live births). Of these, 117 (91.4%) were diagnosed by neonatal ultrasound screening and 44.5% of these had been previously identified by prenatal ultrasound. Neonatal ultrasound had a specificity of 100% and a sensitivity of 92.1%. Forty-five patients (35.2%) had ipsilateral CAKUT and the most common type was urinary collecting system anomalies (75.5%). Over a median follow-up of 6.3 years (1–10 years), compensatory renal hypertrophy was observed in 81 patients (63.7%), most of whom had ipsilateral CAKUT (76.1% vs 56.6% of patients without ipsilateral CAKUT). Albuminuria and hypertension were observed in 3.12% and 5% of patients, respectively, and both were associated with ipsilateral CAKUT (P < .05). In addition, 75% of albuminuria cases (P = .031), 83.3% of hypertension cases (P = .004), and 100% of decreased eGFRcases (P = .031) were significantly associated with CAKUT (renal parenchymal anomaly category), being the strongest predictor of GFR the presence or absence of CAKUT.Neonatal ultrasound screening is useful for the early diagnosis of SFK. The presence of ipsilateral CAKUT should be evaluated in all patients with SFK as congenital anomalies of the renal parenchyma are associated with a poorer prognosis. Because morbidity from CAKUTs may not develop until adulthood, patients should be closely followed throughout life.