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While 44-83% of children with steroid-resistant nephrotic syndrome (SRNS) without a proven genetic cause respond to treatment with a calcineurin inhibitor (CNI), current guidelines recommend against the use of immunosuppression in monogenic SRNS. This is despite existing evidence suggesting that remission with CNI treatment is possible and can improve prognosis in some cases of monogenic SRNS. Herein, our retrospective study assessed response frequency, predictors of response and kidney function outcomes among children with monogenic SRNS treated with a CNI for at least three months. Data from 203 cases (age 0-18 years) were collected from 37 pediatric nephrology centers. Variant pathogenicity was reviewed by a geneticist, and 122 patients with a pathogenic and 19 with a possible pathogenic genotype were included in the analysis. After six months of treatment and at last visit, 27.6% and 22.5% of all patients respectively, demonstrated partial or full response. Achievement of at least partial response at six months of treatment conferred a significant reduction in kidney failure risk at last follow-up compared to no response (hazard ratio [95% confidence interval] 0.25, [0.10-0.62]). Moreover, risk of kidney failure was significantly lower when only those with a follow-up longer than two years were considered (hazard ratio 0.35, [0.14-0.91]). Higher serum albumin level at CNI initiation was the only factor related to increased likelihood of significant remission at six months (odds ratio [95% confidence interval] 1.16, [1.08-1.24]). Thus, our findings justify a treatment trial with a CNI also in children with monogenic SRNS.

Introduction: The vesicoureteral reflux (VUR) is among the most common congenital disorder of urinary system. There are several surgical methods to manage this disease. In this study we aimed to assess and compare the result of the two common surgical techniques including Cohen and Gil-Vernet methods of in children with VUR.Method and materials: In this retrospective study, we gathered the record of all patients who underwent Cohen or Gil-Vernet surgeries during 2010-2017. We recruited all the infants and patients until age of 15 years who had moderate and high grade VUR in voiding cystourethrogram (VCUG). We gathered and compared information regarding the grade of VUR, the number of breaks through urinary tract infection (UTI), kidney parenchymal scars and the side effects of surgery between two methods. Results: In this study we recruited 89 patients with mean age of 66.56 ± 31.51months. Of all patients, 18 cases underwent Cohen surgery and for 71 patients Gil-Vernet was performed. All the patients showed improvement regarding the grade of reflux according to VCUG (p:.001). The incidence rate of UTI was decreased in both groups (p:0.001). The clinical profile of the study participants was improved in both group and there was not any difference between two surgical modalities in this respect. The mean follow-up time was 59.11 ± 23.4 months.Conclusion: Both Cohen or Gil-Vernet surgeries were effective methods for treating VUR. Also, there was not any significant difference between two surgical techniques.

The newest Kidney Disease Improving Global Outcomes (KDIGO) guideline recommendations were investigated mainly for the care of adult kidney transplant recipients, but no guideline exists for the management of pediatric transplant recipients. This review provides update recommendations in the management of pediatric kidney transplantation. Four electronic databases, PubMed, EMBASE, Google Scholar, and Web of Science were searched systematically for the last two decades, using Mesh terms in English language. The Grades of Recommendation Assessment, Development, and Evaluation (GRADE) approach was used for grading the quality of the overall evidence and the strength of recommendations for each outcome across the studies. The overall quality of evidence categorized as high (A), moderate (B), low (C), or poor (D). The strength of a recommendation was determined as level 1 (recommended) or level 2 (suggested). The ungraded statements were determined on the basis of common sense to provide general advice. Of the 317 citations which were screened for the evidence review, 62 were included in data extraction. The included studies were randomized controlled trials, prospective cohorts and cross-sectional, descriptive, and review studies. Of the 115 statements, 56 (48.6%) were graded 1 (we recommend), 34 (29.5%) were graded 2 (we suggest), and 25 (21.7%) were ungraded statements. Altogether, only 22 (19.1%) of recommendations reached the "A" or "B" levels of quality of evidence. The pediatric kidney transplant recipients are different from adult recipients regarding the primary kidney diseases, surgical techniques, drug metabolism, adherence to medications, growth and neurocognitive development and immunization needs prior to transplantation. DOI: 10.52547/ijkd.7179.

Patient safety classifications are used to collect, classify and analyze patient safety data.This review was conducted to identify and compare the subject and coverage of existing patient safety classifications for Health Information Technology (HIT) and medical devices in which HIT may cover.All studies in patient safety that developed or extended any type of classification in HIT and medical devices were included. We identified and classified the covered concepts in these systems.We identified 7 articles that met all of the inclusion criteria, resulting in 6 classifications. The most common patient safety subjects included adverse events and medication errors. Incident types and contributing factors/hazards were the most frequently covered concepts.Patient safety classifications in HIT cover more concepts and classes than medical device classifications. It is therefore recommended to improve existing classification systems in terms of covered concepts and classes.

International Society for Peritoneal Dialysis. Baxter Health Care. Fresenius Medical Care, Germany. Ipsen. Medical Faculty of University of Cologne. Marga and Walter Boll-Foundation. Federal Ministry of Education & Research (BMBF): 01GM1515. European Rare Kidney Disease Reference Network (ERKNet).

Coenzyme Q10; Mitochondria; Steroid-resistant nephrotic syndrome Coenzima Q10; Mitocondrias; Síndrome nefrótico resistente a los esteroides Coenzim Q10; Mitocondris; Síndrome nefròtic resistent als esteroides Primary Coenzyme Q10 deficiency is a rare mitochondriopathy with a wide spectrum of organ involvement, including steroid-resistant nephrotic syndrome mainly associated with disease-causing variants in the genes COQ2, COQ6 or COQ8B. We performed a systematic literature review, PodoNet, mitoNET, and CCGKDD registries queries and an online survey, collecting comprehensive clinical and genetic data of 251 patients spanning 173 published (47 updated) and 78 new cases. Kidney disease was first diagnosed at median age 1.0, 1.2 and 9.8 years in individuals with disease-causing variants in COQ2, COQ6 and COQ8B, respectively. Isolated kidney involvement at diagnosis occurred in 34% of COQ2, 10.8% of COQ6 and 70.7% of COQ8B variant individuals. Classic infantile multiorgan involvement comprised 22% of the COQ2 variant cohort while 47% of them developed neurological symptoms at median age 2.7 years. The association of steroid-resistant nephrotic syndrome and sensorineural hearing loss was confirmed as the distinctive phenotype of COQ6 variants, with hearing impairment manifesting at average age three years. None of the patients with COQ8B variants, but 50% of patients with COQ2 and COQ6 variants progressed to kidney failure by age five. At adult age, kidney survival was equally poor (20-25%) across all disorders. A number of sequence variants, including putative local founder mutations, had divergent clinical presentations, in terms of onset age, kidney and non-kidney manifestations and kidney survival. Milder kidney phenotype was present in those with biallelic truncating variants within the COQ8B variant cohort. Thus, significant intra- and inter-familial phenotype variability was observed, suggesting both genetic and non-genetic modifiers of disease severity. In addition, this project has been supported by the European Reference Network for Rare Kidney Diseases (ERKNet), the PodoNet Network for Podocyte Disorders, and the German (mitoNET) and European Networks for Mitochondrial Disorders (GENOMIT). ERKNet is co-funded by the European Union within the framework of the Third Health Programme “ERN-2016 - Framework Partnership Agreement 2017-2021.” PodoNet and mitoNET/GENOMIT have received funding from the German Ministry of Education and Research, and PodoNet from the EU 7th Framework Programme (EURenOmics; grant 2012-305608) and the German Research Foundation (Scha 477/11-1). Founder effect analyses were supported by the Polish Ministry of Science and Education (2017/25/B/NZ2/00519). We would also like to thank Drs. Kei Murayama and Masaru Shimura from Chiba Children’s Hospital, Chiba, Japan, for their contribution to the clinical assessment and follow-up of 2 families. Last but not least, we gratefully acknowledge the help of Elena Levtchenko in rolling out the survey.

Contains fulltext : 283144.pdf (Publisher’s version ) (Open Access) Primary Coenzyme Q10 (CoQ(10)) deficiency is an ultra-rare disorder caused by defects in genes involved in CoQ(10) biosynthesis leading to multidrug-resistant nephrotic syndrome as the hallmark kidney manifestation. Promising early results have been reported anecdotally with oral CoQ(10) supplementation. However, the long-term efficacy and optimal prescription remain to be established. In a global effort, we collected and analyzed information from 116 patients who received CoQ(10) supplements for primary CoQ(10) deficiency due to biallelic pathogenic variants in either the COQ2, COQ6 or COQ8B genes. Median duration of follow up on treatment was two years. The effect of treatment on proteinuria was assessed, and kidney survival was analyzed in 41 patients younger than 18 years with chronic kidney disease stage 1-4 at the start of treatment compared with that of an untreated cohort matched by genotype, age, kidney function, and proteinuria. CoQ(10) supplementation was associated with a substantial and significant sustained reduction of proteinuria by 88% at 12 months. Complete remission of proteinuria was more frequently observed in COQ6 disease. CoQ(10) supplementation led to significantly better preservation of kidney function (5-year kidney failure-free survival 62% vs. 19%) with an improvement in general condition and neurological manifestations. Side effects of treatment were uncommon and mild. Thus, our findings indicate that all patients diagnosed with primary CoQ(10) deficiency should receive early and life-long CoQ(10) supplementation to decelerate the progression of kidney disease and prevent further damage to other organs.

Rationale & Objective Research on pediatric kidney replacement therapy (KRT) has primarily focused on Europe and North America. In this study, we describe the mortality risk of children treated with maintenance peritoneal dialysis (MPD) in different parts of the world and characterize the associated demographic and macroeconomic factors. Study Design Prospective cohort study. Setting & Participants Patients younger than 19 years at inclusion into the International Pediatric Peritoneal Dialysis Network registry, who initiated MPD between 1996 and 2017. Exposure Region as primary exposure (Asia, Western Europe, Eastern Europe, Latin America, North America, and Oceania). Other demographic, clinical, and macroeconomic (4 income groups based on gross national income) factors also were studied. Outcome All-cause MPD mortality. Analytical Approach Patients were observed for 3 years, and the mortality rates in different regions and income groups were calculated. Cause-specific hazards models with random effects were fit to calculate the proportional change in variance for factors that could explain variation in mortality rates. Results A total of 2,956 patients with a median age of 7.8 years at the start of KRT were included. After 3 years, the overall probability of death was 5%, ranging from 2% in North America to 9% in Eastern Europe. Mortality rates were higher in low-income countries than in high-income countries. Income category explained 50.1% of the variance in mortality risk between regions. Other explanatory factors included peritoneal dialysis modality at start (22.5%) and body mass index (11.1%). Limitations The interpretation of interregional survival differences as found in this study may be hampered by selection bias. Conclusions This study shows that the overall 3-year patient survival on pediatric MPD is high, and that country income is associated with patient survival.

Introduction Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare disorder caused by perturbation in renal reabsorption of magnesium and calcium. Biallelic pathogenic variants either in gene CLDN16 or CLDN19 are responsible for molecular defects. Most patients with CLDN19 variants have been associated with ocular involvements (FHHNCOI). Patient and Methods We had a pediatric patient with hypercalciuric hypomagnesemia and bilateral chorioretinal atrophy. Metabolic profiling and radiology examinations were performed, in addition to whole exome sequencing (WES) used for detection of the causative variant. Results Analysis of WES revealed a homozygous c.223G > A (p.G75S) variant in CLDN19. MutationTaster and Combined Annotation-Dependent Depletion support its deleterious effect and SHERLOC's criteria put it in pathogenic category. This variant is previously reported in compound heterozygous state with other known pathogenic variant. As far as we know, it is the first report of this variant in homozygous state. Conclusion The variant found in our patient is pathogenic and compatible with FHHNCOI characteristics. WES is an advantageous tool in molecular diagnosis and finding genetic pathology of this disease. In line with other reports, ocular abnormalities are variable in patients with CLDN19 mutations, and chronic kidney disease and retinal damages must be considered in this group.

Background Hemolytic uremic syndrome (HUS) is a rare condition which diagnosed with the triad of thrombocytopenia, microangiopathic hemolytic anemia, and acute renal injury. There is a high requirement for research to discover treatments. HUS registries can be used as an important information infrastructure. In this study, we identified and compared the different features of HUS registries to present a guide for the development and implementation of HUS registries. Results The purposes of registries were classified as clinical (9 registries), research (7 registries), and epidemiological (5 registries), and only 3 registries pursued all three types of purposes. The data set included demographic data, medical and family history, para-clinical and diagnostic measures, treatment and pharmacological data, complications, and outcomes. The assessment strategies of data quality included monthly evaluation and data audit, the participation of physicians to collect data, editing and correcting data errors, increasing the rate of data completion, following guidelines and data quality training, using specific data quality indicators, and real-time evaluation of data at the time of data entry. 8 registries include atypical HUS patients, and 7 registries include all patients regardless of age. Only two registries focused on children. 4 registries apply prospective and 4 applied both prospective, and retrospective data collection. Finally, specialized hospitals were the main data source for these registries. Conclusion Based on the findings, we suggested a learning framework for developing and implementing an HUS registry. This framework includes lessons learned and suggestions for HUS registry purposes, minimum data set, data quality assurance, data collection methods, inclusion and exclusion criteria as well as data sources. This framework can help researchers develop HUS registries.

Background Given the importance of the function of the remnant kidney in children with unilateral renal agenesis and the significance of timely diagnosis and treatment of reflux nephropathy to prevent further damage to the remaining kidney, we aimed to determine the prevalence of reflux nephropathy in this subgroup of pediatric patients. Methods In general, 274 children referred to pediatric nephrologists in different parts of Iran were evaluated, of whom 199 had solitary kidney and were included in this cross-sectional study. The reasons for referral included urinary tract infection (UTI), abnormal renal ultrasonography, being symptomatic, and incidental screening. Demographic characteristics, including age and gender were recorded. History of UTI and presence of vesicoureteral reflux (VUR) were evaluated. Results Of the 274 children evaluated in this study with the mean age (SD) of 4.71 (4.24) years, 199 (72.6%) had solitary kidney. Among these, 118 (59.3%) were male and 81 (60.7%) were female, 21.1% had a history of UTI, and VUR was present in 23.1%. The most common cause of referral was abnormal renal ultrasonography (40.2%), followed by incidental screening (21.1%), being symptomatic (14.1%), and UTI (5.5%). In 116 children (58.3%), the right kidneys and in 83 (41.7%) the left kidneys were absent. Besides, 14.6% of the participants had consanguineous parents and 3% had a family history of solitary kidney. Upon DMSA scan, the single kidney was scarred in 13.1%, of which only 7.5% were associated with VUR. In addition, proteinuria and hematuria were observed in 6.5% and 1.5% of children, respectively. Conclusions The prevalence of reflux nephropathy was 7.5% in children with solitary kidney with a male predominance. Given the relatively high prevalence of reflux nephropathy in these children, screening for VUR in the remnant kidney appears to be essential in this population.

Additional file 1. Detailed features of selected HUS registries.

Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is clinically characterized by fibrocystic changes of the kidneys and the liver. The main cause of ARPKD are variants in the PKHD1 gene encoding the large transmembrane protein fibrocystin. The mechanisms underlying the observed clinical heterogeneity in ARPKD remain incompletely understood, partly due to the fact that genotype-phenotype correlations have been limited to the association of biallelic null variants in PKHD1 with the most severe phenotypes. In this observational study we analyzed a deep clinical dataset of 304 patients with ARPKD from two independent cohorts and identified novel genotype-phenotype correlations during childhood and adolescence. Biallelic null variants frequently show severe courses. Additionally, our data suggest that the affected region in PKHD1 is important in determining the phenotype. Patients with two missense variants affecting amino acids 709-1837 of fibrocystin or a missense variant in this region and a null variant less frequently developed chronic kidney failure, and patients with missense variants affecting amino acids 1838-2624 showed better hepatic outcome. Variants affecting amino acids 2625-4074 of fibrocystin were associated with poorer hepatic outcome. Thus, our data expand the understanding of genotype-phenotype correlations in pediatric ARPKD patients and can lay the foundation for more precise and personalized counselling and treatment approaches. German Society for Pediatric Nephrology (GPN); ESCAPE Network; European Society for Paediatric Nephrology (ESPN); German PKD foundation; Koeln Fortune program; GEROK program of the Medical Faculty of University of Cologne; Marga and Walter Boll-Foundation; German Federal Ministry of Research and Education (BMBF)Federal Ministry of Education & Research (BMBF) [01GM1515, 01GM1903]; working group CAKUT of the ESPN; working group Inherited Kidney Diseases of the ESPN We thank the German Society for Pediatric Nephrology (GPN) and the ESCAPE Network for their support. We thank Mr Mathias Burgmaier (Aachen) and Mr Samuel Kilian (Heidelberg) for support in conducting statistical analysis. ML was supported by grants of the GPN, the European Society for Paediatric Nephrology (ESPN), the German PKD foundation, the Koeln Fortune program, the GEROK program of the Medical Faculty of University of Cologne, and the Marga and Walter Boll-Foundation. FS, CB, and ML are supported by the German Federal Ministry of Research and Education (BMBF grant 01GM1515 and 01GM1903). KB was supported by the Koeln Fortune program and the GEROK program of the Medical Faculty of University of Cologne, as well as the Marga and Walter Boll-Foundation. This work was generated within the European Reference Network for Rare Kidney Disorders (ERKNet). The work was supported by the working groups CAKUT and Inherited Kidney Diseases of the ESPN.

BackgroundChildren are recognised as at lower risk of severe COVID-19 compared with adults, but the impact of immunosuppression is yet to be determined. This study aims to describe the clinical course of COVID-19 in children with kidney disease taking immunosuppressive medication and to assess disease severity.MethodsCross-sectional study hosted by the European Rare Kidney Disease Reference Network and supported by the European, Asian and International paediatric nephrology societies. Anonymised data were submitted online for any child (age Results113 children were reported in this study from 30 different countries. Median age: 13 years (49% male). Main underlying reasons for immunosuppressive therapy: kidney transplant (47%), nephrotic syndrome (27%), systemic lupus erythematosus (10%). Immunosuppressive medications used include: glucocorticoids (76%), mycophenolate mofetil (MMF) (54%), tacrolimus/ciclosporine A (58%), rituximab/ofatumumab (11%). 78% required no respiratory support during COVID-19 illness, 5% required bi-level positive airway pressure or ventilation. Four children died; all deaths reported were from low-income countries with associated comorbidities. There was no significant difference in severity of COVID-19 based on gender, dialysis status, underlying kidney condition, and type or number of immunosuppressive medications.ConclusionsThis global study shows most children with a kidney disease taking immunosuppressive medication have mild disease with SARS-CoV-2 infection. We therefore suggest that children on immunosuppressive therapy should not be more strictly isolated than children who are not on immunosuppressive therapy.

Background: Peritonitis remains a significant complication of peritoneal dialysis (PD) in children. Objectives: The current study aimed to evaluate the causative agents of PD-related peritonitis in pediatric patients treated by continuous ambulatory peritoneal dialysis (CAPD) in order to provide evidence for improving the empirical treatment of PD-related peritonitis and avoid antimicrobial resistance. Methods: The medical records of children diagnosed with PD-related peritonitis hospitalized at Mofid and Ali-Asghar Children’s Hospitals from January 2018 to December 2019 were retrospectively reviewed. Cases of relapsing peritonitis and fungal peritonitis were excluded. Data on demographics, clinical manifestations, para-clinical evaluations, peritoneal fluid culture and antibiogram, and antibiotic regimen were analyzed. Results: A total of 23 CAPD children aged 1 - 17 years were hospitalized with a confirmed diagnosis of PD-related peritonitis, accounting for a total of 27 peritonitis cases. The most frequent manifestation of peritonitis was cloudy dialysate (85.2%), followed by abdominal pain (59.3%). Gram-negative organisms were isolated in 48.1% of cases, and 4 cases had negative cultures. The frequency of antibiotic prescription within 14 days of admission was significantly higher in culture-negative cases (P = 0.002), and abdominal pain was more prevalent in Gram-negative peritonitis (P = 0.004). All Gram-negative organisms were sensitive to ceftazidime and imipenem; while 61.6% of them were sensitive to gentamycin. All Gram-positive organisms were sensitive to cefazolin, and vancomycin was effective against all Staphylococcus strains. Oxacillin resistance was reported in 50% of Staphylococcus strains. Conclusions: PD-related peritonitis should be suspected even in cases with clear dialysis effluent who present with other manifestations of peritonitis such as fever or abdominal pain. Moreover, intraperitoneal administration of a first-generation cephalosporin (cefazolin) combined with ceftazidime was an appropriate therapeutic option for empiric therapy.

Knowing the epidemiological aspects of chronic kidney disease (CKD) in children is crucial for early recognition, identification of reversible causes, and prognosis. Here, we report the epidemiological characteristics of childhood CKD in Iran.This cross-sectional study was conducted during 1991 - 2009. The data were collected using the information in the Iranian Pediatric Registry of Chronic Kidney Disease (IPRCKD) core dataset.A total of 1247 children were registered. The mean age of the children at registration was 0.69 ± 4.72 years (range, 0.25 -18 years), 7.79 ± 3.18 years for hemodialysis (HD), 4.24 ± 1.86 years for continuous ambulatory peritoneal dialysis (CAPD), and 3.4±1.95 years for the children who underwent the renal transplantation (RT) (P.001). The mean year of follow-up was 7.19 ± 4.65 years. The mean annual incidence of CKD 2-5 stages was 3.34 per million age-related population (pmarp). The mean prevalence of CKD 2-5 stages was 21.95 (pmarp). The cumulative 1-, 5-, and 10-year patients' survival rates were 98.3%, 90.7%, and 84.8%, respectively. The etiology of the CKD included the congenital anomalies of the kidney and urinary tract (CAKUT) (40.01%), glomerulopathy (19.00%), unknown cause (18.28%), and cystic/hereditary/congenital disease (11.14%).The incidence and prevalence rate of pediatric CKD in Iran is relatively lower than those reported in Europe and other similar studies. CAKUT was the main cause of the CKD. Appropriate management of CAKUT including early urological intervention is required to preserve the renal function. Herein, the long-term survival rate was higher among the children with CKD than the literature.

Additional file 3: Figure S3. Interaction of residue located at position 314 with the surrounding residues. A: Wild Type residue. B: Mutant residue

Additional file 4: Figure S4. H-bonds formed by wild type and mutant residues. Figure S4–1. H-bonds formed by wild type residue. Figure S4–2. H-bonds formed by mutant residue.

Additional file 1. quality assessment of the 3-D structure suggested by phyre2 (using Ramachandran plot and prosA) and the residue of interest (using phyre investigator). Phyre investigator results revealed: Figure S1–1. The residue of interest alignment; Figure S1–2. The residue located between two pocket amino acids; Figure S1–3. Proq2 quality score of the interested residue; Figure S1–4. right Ramachandran analysis of the residue of interest. Ramachandran plot analysis of the model: Figure S1–4. lef: percent of residues located in favored and allowed region. The Z-score of the model was determined by ProSA: Figure S1–5.

Additional file 6: Figure S6. The prediction of secondary structure of the model by phyre2.

Additional file 2: Figure S2. Confirmation of variant using Sanger sequencing

Background: Urine calprotectin significantly rises in acute kidney injury (AKI) in adult and pediatrics. The aim of the present study was to investigate the accuracy of urine calprotectin as a diagnostic marker for (AKI) in neonates. Methods In this cross sectional study, we assessed urine calprotectin in 100 neonates, in which 80 of them had AKI and 20 were healthy. Random urine calprotectin measured by ELISA and then compared between two groups. We included neonates who had received at least 48 hour intra venous fluid and met our inclusion and exclusion criteria. . Receiver-operating characteristic (ROC) curve used to set a cut of point for urine calprotectin to predict AKI. The overall accuracy and Kappa coefficient was used for assess the agreement between two methods.. P value below 0.05 considered significant. Results: Urine calprotectin levels were not significantly higher in neonates with AKI than healthy ones (146.2 vs 142.4, p=0.1). The results showed an optimal cutoff value of 123.5 mg/dl for urine calprotectin with area under the curve of 0•515 with sensitivity, specificity, positive predictive value and negative predictive value of 77.5%,40%,83.7% and 30.7%, respectively. The overall accuracy was 70% and the Kappa agreement coefficient was 0.15 (P=0.11.). Conclusion: Although urine calprotectin level can predict the AKI, it is not accurate measure comparing the gold standard.

HUS is a leading cause of AKI in infants. Though new classification of HUS is based on underlying disease, it traditionally defines as diarrhea positive (typical) and negative (atypical). We have no figure of the incidence and prevalence of HUS, the underlying disease and the outcome in Iranian patients. This meta-analysis of Iranian studies deals with this matter. We used relevant medical search engines and national databases from 1985 to 2019. We searched manually to detect admissible cross references. All studies assessed for the aspects and the risk of distort by three appraisers. Metaprop package of STAT applied to calculate point prevalence, proportion, and incidence with 95% confidence intervals. A total of 27 articles and one abstract of congress containing 7084 cases met all the inclusion criteria and qualified for the final analysis. Considering 1397 patients with HUS over 33 years of study, the pooled prevalence was 28% (95% CI: 15 to 44) and 18.38 pmp (0.55 pmp/y). In children less than 15 years, the prevalence was 79.82 pmp (2.41 pmp/y). Between 1985 and 2019, atypical HUS was identified in 488 patients with the prevalence of 27.88 pmp (annual prevalence of 0.84 pmp/y of children aged less than 15 years old). The incidence was 9.4 pmp (0.28 pmp/y), contributed to 9.9% (95% CI: 3 to 20) of AKI, and 5.48% (95% CI: 3.5 to 7.9) of CKD and ESRD. The rate of HUS diagnosis was increasing during the previous four decades. HUS consists of a significant number of AKI and ESRD. It needs further prospective longitudinal study.

An uncontaminated urine culture is a prerequisite for the diagnosis of a urinary tract infection. However, this may be difficult to obtain in small children. We have studied the frequency of ballooning of the prepuce in non-circumcised boys and vaginal reflux in girls during voiding as a possible cause of contaminated urine cultures. All micturating cystourethrograms (MCUG) performed in our institution over the last 5 years in children aged 0–15 years were reviewed retrospectively for ballooning of the foreskin or vaginal reflux as a potential source of bacterial contamination. The voiding pictures were routinely done with the catheter present for the first voiding cycle and then removed on the second void. A total of 526 children (77.4 % boys, 22.6 % girls) were eligible for the study. Ballooning of the foreskin was identified on the micturition pictures of 115 (38 %) boys, with the frequency significantly higher in boys aged

Shiga toxin induced Escherichia Coli (STEC) is associated with chronic kidney disease or neurologic disability. The aim of this study is to determine the prevalence of STEC identified in human studies in Iran. Search engines of PubMed, EMBASE, OVID, SCOPUS, Web of Science, Google Scholar, IranMedex, MagIran, SID and ganj.irandoc were used. All human studies with stool or rectal swap samples evaluated for STEC and the outcome of HUS in Iran, which had been published between 1985 and 2017, were included. Chi-square and I2 statistic tests were applied to assess between-studies heterogeneity. Pooled prevalence and odd ratio were calculated using random effect models. A total of 30 articles containing 23379 samples were included for the final analysis. The design of study was cross sectional in 16, case control in 13 and one was cohort. The pooled prevalence of STEC was 7% (95% CI, 5 - 11; I2 = 98.3%). In subgroup analysis, the pooled prevalence was 8% (95% CI, 4 - 13; I2 = 97.55%) in children but 4% (95% CI, 2 - 7; I2 = 97.66%) in adults. The odds of patients with diarrhea having had STEC were 7.06 times the odds of healthy subjects (pooled OR = 7.06, 95% CI: 3.66-13.61). Patients with bloody diarrhea less likely to have positive STEC than patients with non-bloody diarrhea (pooled OR = 0.33, 95% CI: 0.10-1.02). STEC was prevalent in diarrheic patients and the rate increased in recent years. The highest contamination was seen in East-South of Iran. Public health intervention is mandatory to eliminate it effectively.

Nephrotic syndrome is a heterogeneous disease in children, with nearly 10% categorized as steroid-resistant. In this study we evaluated disease related mutations within NPHS1, NPHS2 and new potential variants in other genes.In the first phase of study, 25 patients with SRNS were analyzed by Sanger sequencing for NPHS1 (exon 2, 26) and all exons of NPHS2 genes. In the next step, whole exome sequencing was performed on 10 patients with no mutation in NPHS1 and NPHS2.WES analysis revealed a novel mutation in FAT1 (c.10570CA; Q3524K). We identified 4 pathogenic mutations, located in exon 4 and 5 of NPHS2 gene in 20% of patients (V180M, P118L, R168C and Leu156Phe). Also our study has contributed to the description of previously known pathogenic mutations across WT1 (R205C) and SMARCAL1 (R764Q) and a novel polymorphism in CRB2.It seems that NPHS2, especially exons 4 and 5, should be considered as the first step in genetic evaluation of Iranian patients. We suggest conducting WES after NPHS2 screening to identify the potential genes associated with SRNS, Further studies are required to examine more common genes in the first step and then designing native laboratory panels.

Objectives The aim of this study was to compare a group of children with primary nocturnal enuresis (PNE) with a healthy control group by assessing sleep quality. Methods This observational study comprised of 116 children aged between 5 and 15; 58 children, who had natural PNE and had attended the urology clinic as outpatients, and 58 healthy controls, who had referred to Baqiyatallah and Najmiyeh hospitals, Tehran, in 2016 and were selected by simple random sampling. All participants performed the Pittsburgh sleep quality index (PSQI) test. The SPSS 13.0 (SPSS Inc.) software was used for data analysis. Results Ten children (17%) from patients with PNE were preterm or had a difficult delivery (P = 0.02). Most healthy children (n = 26) had eight to ten hours of sleep each night, while in patients, the largest number (n = 28) had six to eight hours of sleep each night (P = 0.09). The need for the presence of parents or toys was higher in children with PNE. Being accustomed to eating and drinking before bedtime was significantly higher in children with PNE (P < 0.05). Sleep apnea was significantly higher in children with PNE (P < 0.05). Parents of 52 children mentioned nocturnal PNE as the only reason for lack of good sleep in their children (P = 0.01). Conclusions Sleep problems in children with enuresis is one of the most important problems, which affects their lives. The current study confirms sleeping problems in children with enuresis. Sleep and enuresis have mutual impressions and one has to consider improvising of sleep quality in children with enuresis.

Background and Objectives: Escherichia coli is the main cause of urinary tract infection regardless of age. If it harbors shiga toxin, hemolytic uremic syndrome may occur. The aim of this study was to determine the incidence and prevalence of Shiga Toxin producing E. coli (STEC), as a cause of urinary tract infection in Iran. Methods: Major medical search engines, Iranian scientific search engines, and Iranian databases for thesis were searched for relevant English or Persian keywords for urinary tract infection, shiga-toxin Escherichia coli, and hemolytic uremic syndrome in Iran, which were published between 1985 and 2017. The study was followed by the PRISMA statement. Point prevalence and proportion were calculated by random effect and I2 for heterogeneity and expressed as 95% confidence intervals. MedCalc version 15 and SPSS IBM were used for statistical analysis. Results: A total of six articles with 1,111 positive E. coli urine cultures met all the inclusion criteria and were eligible for the final analysis. All studies had a cross-sectional design. The qualities of two studies were poor with low to moderate risk of bias. Considering 32 samples reported as positive for STEC, the pooled prevalence for E. coli associated UTI was 3.46% (95% CI, 0.89 to 7.65, I2 = 86%). The study was heterogeneous for publication bias. Conclusions: This review indicated that STEC constituted some percentage of uropathogenic E. coli that required to be considered during culture processing and longer clinical follow up of the patients for the occurrence of STEC-related morbidity.