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Background: Patients diagnosed with congenital kidney malformations are at an increased risk of developing hypertension, proteinuria, and progressing to chronic kidney disease (CKD). The present study aimed to determine the frequency of masked hypertension and ambulatory arterial stiffness index (AASI) in patients with congenital kidney malformations., Methods: The study included 174 patients with congenital kidney malformations (48 patients with unilateral renal agenesis (URA), 40 patients with ectopic kidney (EK), 36 patients with horseshoe kidney (HK), 31 patients with multicystic dysplastic kidney (MCDK), 19 patients with unilateral renal hypoplasia (URH), and 45 healthy controls., Results: The mean age was 12.9 ± 2.9 years, and the male-to-female ratio was 1.5. No significant differences were observed between the congenital kidney malformations groups concerning age, sex, follow-up period, proteinuria, or estimated glomerular filtration rate (eGFR) (P > 0.05). Nevertheless, the prevalence of masked hypertension exhibited a statistically significant increase in the congenital kidney malformations groups (except the URH group) compared to the control group (P < 0.05). The AASI was significantly greater in the congenital kidney malformations groups than in the control group (P < 0.05). The nighttime diastolic blood pressure (DBP), mean arterial pressure (MAP), and DBP index were significantly different between the congenital kidney malformations groups (P < 0.05). However, there were no significant differences in nondipping pattern, proteinuria, or masked hypertension between the congenital kidney malformations groups., Conclusions: Patients with congenital kidney malformations should be periodically evaluated throughout life for BP. Based on the present findings, we strongly recommend ABPM for the diagnosis of masked hypertension and outcomes, including AASI score., Competing Interests: Declarations. Conflict of interest: The authors declare that they have no conflict of interest. Ethical approval: The study protocol was approved by the Ankara Etlik City Hospital Ethics Committee. Ankara Etlik City Hospital ethics commitee approved the study. Consent to participate: Not applicable. Consent for publication: Not applicable., (© 2024. The Author(s), under exclusive licence to Japanese Society of Nephrology.)

Background: Coronavirus disease 2019 (COVID-19) has been recognised as a risk factor for acute kidney injury (AKI). Our aim was to investigate the risk factors contributing to hospitalised and outpatient paediatric COVID-19-associated AKI., Methods: A retrospective observational study was conducted on patients aged 1 month to 18 years with diagnosed COVID-19-associated AKI applied to a tertiary paediatric referral hospital between March 1, 2020 and March 1, 2022., Results: A total of 6683 patients were evaluated and 486 patients were included in the study. Acute kidney injury was observed in 3.7% of outpatients and 23.9% of hospitalised patients. Multivariate logistic regression analysis showed that, on admission, a history of contact with a COVID-19 positive person (p < 0.001), age below 12 months (p = 0.004), presence of comorbidities (p < 0.001), abdominal pain (p = 0.008), anorexia (p = 0.003), dyspnoea (p = 0.005), higher lactate dehydrogenase values (p = 0.004), neutrophilia (p < 0.001), higher neutrophil-to-lymphocyte ratio (NLR) (p = 0.003), higher white blood cell counts (p = 0.006), elevated C-reactive protein (CRP) levels (p = 0.002), anaemia (p = 0.015), hypoalbuminaemia (p < 0.001), hyperglycaemia (p = 0.006), and presence of proteinuria (p = 0.003) were independent predictors of AKI. Higher rates of hospitalisation (p < 0.001) and admission to the paediatric intensive care unit (PICU) (p < 0.001), longer length of hospitalisation (p < 0.001), and greater need for mechanical ventilation (p < 0.001) were associated with AKI., Conclusions: This study reveals that not only hospitalised children, but also paediatric patients are at risk for AKI. The presence of comorbidities, abdominal pain, anorexia, dyspnoea, anaemia, inflammation, hypoalbuminaemia, proteinuria and history of contact with a COVID-19 positive person were the main risk factors for AKI. COVID-19-associated AKI was associated with worse outcomes., Competing Interests: Declarations. Conflict of interest: The authors report no conflicts of interest. Ethical approval: This study was conducted in accordance with the principles of the Declaration of Helsinki. Informed consent: Informed consent was waived due to the retrospective observational nature of the study., (© 2024. The Author(s).)

Objective: The importance of immature granulocytes (IGs) in most infectious and inflammatory diseases has been highlighted. This study aimed to determine the clinical usability and importance of changes in the peripheral complete blood count profile, including IG percentage (IG%) and IG count (IG#), during the relapse and remission phases in pediatric nephrotic syndrome (NS) patients., Methods: This retrospective observational study was performed at a tertiary care hospital between February 2020 and August 2022. Demographic characteristics and laboratory parameters were recorded. The IG count and IG% were measured using an automated hematological analyzer., Results: IG% and IG# were both higher during the relapse phase of NS than during the remission phase (0.29% ± 0.14%, versus 0.23% ± 0.14%, p  = 0.037 and 0.027 ± 0.015 × 10 3 /µL, versus 0.018 ± 0.014 × 10 3 /µL, p  = 0.005, respectively). The neutrophil to lymphocyte ratio (NLR), platelet (PLT), white blood cell (WBC), and neutrophil counts had a strong positive correlation with IG# ( r  = 0.397, p  < 0.001; r  = 0.352, p  < 0.001; r = 0.622, p  < 0.001; r  = 0.660, p  < 0.001, respectively). The NLR, PLT, WBC, and neutrophil counts had a strong positive correlation with IG% ( r  = 0.348, p  < 0.001; r  = 0.187, p  = 0.039; r  = 0.303, p  = 0.001; r = 0.426, p  < 0.001, respectively). Receiver operating characteristic curve analysis showed that IG# had the best AUC value of 0.69 (95% CI: 0.58-0.77; p  = 0.001) for the relapse phase of NS with a cutoff value of 0.025 × 10 3 /µL (sensitivity: 81.0%, specificity: 78.1%)., Conclusions: It is probable that a high level of immature granulocyte count has a positive correlation for NS relapse in pediatric patients. The IG % and IG# can be used together as biomarkers of inflammation in pediatric NS relapse.

Background: Acute post-streptococcal glomerulonephritis (APSGN) is an immune-mediated inflammatory respsonse in the kidneys caused by nephritogenic strains of group A β-hemolytic streptococcus (GAS). The present study aimed to present a large patient cohort of APSGN patients to determine the factors that can be used for predicting the prognosis and progression to rapidly progressive glomerulonephritis (RPGN)., Methods: The study included 153 children with APSGN that were seen between January 2010 and January 2022. Inclusion criteria were age 1-18 years and follow-up of ≥ 1 years. Patients with a diagnosis that could not be clearly proven clinically or via biopsy and with prior clinical or histological evidence of underlying kidney disease or chronic kidney disease (CKD) were excluded from the study., Results: Mean age was 7.36 ± 2.92 years, and 30.7% of the group was female. Among the 153 patients, 19 (12.4%) progressed to RPGN. The complement factor 3 and albumin levels were significantly low in the patients who had RPGN (P = 0.019). Inflammatory parameters, such as C-reactive protein (CRP), platelet-to-lymphocyte ratio, CRP/albumin ratio, and the erythrocyte sedimentation rate level at presentation were significantly higher in the patients with RPGN (P < 0.05). Additionally, there was a significant correlation between nephrotic range proteinuria and the course of RPGN (P = 0.024)., Conclusions: We suggest the possibility that RPGN can be predicted in APSGN with clinical and laboratory findings. A higher resolution version of the Graphical abstract is available as Supplementary information., (© 2023. The Author(s), under exclusive licence to International Pediatric Nephrology Association.)

Background: The most well-known and common long-term complication in children with renal parenchymal scarring (RPS) is hypertension (HT). The present study aimed to evaluate the presence of HT in children with RPS based on ambulatory blood pressure monitoring (ABPM) and to compare the patients' blood pressure (BP) to that in healthy controls matched for age, gender, and BMI., Methods: The study included 55 patients aged < 18 years diagnosed with RPS who were followed up for ≥ 1 year and 48 healthy controls matched for age, gender, and BMI., Results: Mean age in the RPS group was 12.8 ± 3.3 years, and 49.1% of the group were female. Among the RPS patients, 28 were diagnosed with HT based on ABPM, of which 18 (32.7%) had an office BP < 90th percentile for age, gender, and height; seven had an office BP between the 90-95th percentiles for age, gender, and height; and three had an office BP > 95 percentile for age, gender, and height. The difference in detection of HT based on ABPM between the two groups was significant (P = 0.00)., Conclusions: Early diagnosis of HT via ABPM can help prevent development of kidney failure and cardiovascular disease in patients with RPS, significantly reducing the rates of morbidity and mortality. All children with RPS should be evaluated via ABPM, even if office BP measurements are normal. "A higher resolution version of the Graphical abstract is available as Supplementary information"., (© 2022. The Author(s), under exclusive licence to International Pediatric Nephrology Association.)

Introduction: A high vesicoureteral reflux (VUR) grade is among the specific risk factors for febrile urinary tract infection (febrile UTI) and renal scarring. The aim of this study was to examine the predictive value of some potential hematological parameters for high-grade VUR and renal scarring in children 2 to 24 months old with febrile UTI., Methods: We retrospectively examined the clinical features, laboratory tests, and imaging studies of 163 children 2 to 24 months old with a diagnosis of febrile UTI. The hematological parameters based on the neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and white blood cell count (WBC) were calculated using a receiver operating characteristic (ROC) analysis to select which one is suitable., Results: Of the 163 children with febrile UTI, 57 patients (35%) exhibited high-grade VUR. Regarding the predictive power for high-grade VUR, the median area under the curve (AUC) was 0.692 for NLR (sensitivity 61.4%, specificity 69.8%, P < 0.001) and 0.681 for PLR (sensitivity 63.2%, specificity 62.3%, P < 0.001). White blood cell count demonstrated the highest area under the ROC curve for diagnosis of high-grade VUR (0.884, 95% confidence interval 0.834-0.934) and an optimal cutoff value of 13.5 (sensitivity 80.7%, specificity 80.2%, P < 0.001). White blood cell count, with the highest AUC of 0.892 while the sensitivity and specificity were 83.3% and 82.8, was the preferred diagnostic index for renal scarring screening., Conclusions: White blood cell count, NLR, and PLR were useful biomarkers closely related to children with febrile UTI who are at risk for high-grade VUR can also act as a novel marker to accurate prediction of high-grade VUR and renal scarring. Also, NLR and PLR can serve as useful diagnostic biomarkers to distinguish high-grade VUR from low-grade VUR.

Aim: The most serious form of urinary tract infection (UTI) is acute pyelonephritis (APN), which can result in bacteremia and renal scarring. This study aims to show the roles that the systemic immune-inflammation index (SII) and the immature granulocyte (IG) percentage play in predicting APN in pediatric patients by comparing them with traditional infection markers. By illustrating a significant relationship between APN, the IG percentage, and the SII, the study's contributions to the differential diagnosis of UTI can promote a rapid and appropriate treatment of APN., Material and Methods: The present study included 522 pediatric patients. The patients were divided into two groups: (I) an APN group (n = 236) and (II) a lower UTI group (n = 286)., Results: The mean age of the sample was 5.05 ± 4.7 years. According to the most appropriate cutoff values, the findings showed that among all the parameters, C-reactive protein (CRP) and the IG percentage had the highest sensitivities, specificities, and predictive values for predicting APN., Conclusion: This study emphasizes the support features of the IG percentage and the SII in the diagnosis of APN in pediatric patients, a topic that has recently attracted attention. The findings indicated that among all of the parameters behind CRP, the IG percentage and the SII had the highest sensitivities, specificities, and predictive values for forecasting APN. It is worth noting that these methods can be applied without additional costs or burdens to the patient.

Introduction: The objective of this study was to determine the common indications of acute intermittent hemodialysis (IHD) treatment in childhood and to assess the characteristics of the procedure, complications, and prognosis., Methods: The study included 102 patients aged between 0 and 18 years, who had been acute dialysis indication and treated with IHD., Results: In terms of acute kidney injury (AKI) etiology, glomerular diseases were prominent in 56% of the patients, and 8.6% of surviving patients progressed to end-stage renal disease. Regarding the cause of AKI, having the glomerular disease was determined to be directly associated (p = 0.01) with the risk of progression to chronic kidney disease (CKD) regardless of age, gender, onset time of renal replacement therapy., Conclusion: Glomerular diseases were the most common in AKI etiology and were associated with the progression to CKD, independent of age, gender and the time of IHD onset in our study., (© 2022 International Society for Apheresis and Japanese Society for Apheresis.)

Background: Immunoglobulin A (IgA) vasculitis (also known as Henoch-Schonlein purpura) is the most common small vessel vasculitis of childhood. The long-term prognosis depends on renal involvement. The aim of this study was to evaluate the risk factors associated with renal involvement in children with IgA vasculitis and to investigate the best timing of urine examination to predict the presence of renal involvement at the sixth month after the diagnosis., Methods: In this prospective observational study, medical records, demographic data, clinical findings, laboratory tests, and urine microscopic examinations of pediatric patients diagnosed with IgA vasculitis were evaluated to identify potential risk factors associated with renal involvement., Results: A total of 178 patients with a median age of 6 years were involved in the study. Renal involvement was found in 24 (13.5%) patients. Most of the patients (85.7%), whose urine examination was found to be abnormal at the sixth month after the diagnosis, also had abnormalities in the first month urine examination. Factors significantly associated with renal involvement were as follows: older age, presence of hematuria and or proteinuria in the first month urine examination and patients who presented the disease in the spring season. Multivariate logistic regression analysis showed age ≥8 years ( p = 0.005), the season of onset ( p = 0.025), serum creatinine levels ( p = 0.016), and abnormal urine examinations at the first-month visits ( p = 0.005) significantly increased the risk of renal involvement., Conclusion: This study has demonstrated that the optimal date to predict the presence of hematuria and/or proteinuria in the sixth month is the urine examination performed in the first month of the disease. Therefore, we think that patients with IgA vasculitis who show a presence of hematuria and/or proteinuria in the first-month urine examination should be followed more closely.

Membranoproliferative glomerulonephritis and renal microangiopathies may manifest similar clinical presentations and histology. Many genetic mutations that cause these diseases have been reported. Studies on mutations in the gene encoding diacylglycerol kinase epsilon identified a novel pathophysiologic mechanism leading to atypical hemolytic uremic syndrome and/or membranoproliferative glomerulonephritis. Here, we present the different clinical presentations and treatments in 4 family members who carried the same homozygous diacylglycerol kinase epsilon mutation. The first patient (age 5 years, 3 months old at diagnosis) had nephrotic syndrome. The kidney biopsy was membranoproliferative glomerulonephritis; partial remission was achieved with cyclophosphamide, cyclosporine, and mycophenolate mofetil treatment. The second patient (age 5 years, 7 months at diagnosis) presented with overlapping atypical hemolytic uremic syndrome and membranoproliferative glomerulonephritis. Remission could not be achieved with cyclophosphamide, cyclosporine, and mycophenolate mofetil, and hemodialysis treatment was started. At 10 years from first admission, the patient had end-stage kidney disease, and kidney transplant was performed successfully. The third patient was admitted with the diagnosis of nephrotic syndrome at 13 months of age, kidney biopsy showed membranoproliferative glomerulonephritis, and spontaneous remission developed during followup. He presented with hemolytic uremic syndrome 15 months after the first admission, and dialysis was started. Remission was achieved with plasma infusion and eculizumab treatment. The fourth patient (a 7-month-old boy and brother of patient 3) had no clinical or laboratory findings. All patients had genetic analysis, and mutation in exon 2:c.473G>A(p. W158*) was detected. Our related patients with the same mutation showed different clinical and histological findings. However, we did not observe a clear genotype-phenotype correlation in patients with diacylglycerol kinase epsilon nephropathy, suggesting additional factors mediating phenotypic heterogeneity.

Background: Children born with unilateral renal agenesis (URA) are thought to have a risk of developing hypertension, proteinuria, and progressive chronic kidney disease (CKD). The present study aimed to evaluate the long-term prognosis and clinical characteristics of children with URA., Methods: The study included 171 patients aged < 18 years diagnosed as URA who were followed-up for ≥ 1 year and 121 healthy controls matched for age, gender, and BMI., Results: Median age at diagnosis was 2 years (IQR: 1 month-16 years) and the incidence of URA in males (65.4%) was higher than in females. Among the patients, 21 (12.2%) had other urinary system anomalies. It was noted that 2.3% of the patients had proteinuria, 15.2% had hyperfiltration, and 2.9% had CKD. Hypertension based on ambulatory blood pressure monitoring (ABPM) was diagnosed in 18 (10.5%) of the patients, of whom 10 had masked hypertension. Diastolic blood pressure in the URA patients was significantly higher than in the healthy controls. The incidence of hypertension and CKD was significantly higher in the patients with other urinary system anomalies., Conclusions: Patients with a single functional kidney should be periodically evaluated throughout their lifetime for urine protein, blood pressure, and kidney functions. The most remarkable finding of this study is the importance of the use of ABPM for evaluating blood pressure in pediatric URA patients, especially for the detection of masked hypertension and the non-dipper phenomenon, which cannot be achieved with office blood pressure measurement., (© 2021. IPNA.)

Background : C3 glomerulopathy (C3G) is an uncommon disease characterized by the deposition of complement factors in the glomeruli due to overactivation and dysregulation of the alternative pathway of complement. Objectives : This study aimed to describe the clinicopathological features, laboratory testing, clinical course, treatment, and outcomes of pediatric patients with C3G. Patients and Methods : We reviewed retrospectively the laboratory testing, kidney biopsy reports, and clinical features of 18 patients at our hospital from 2007 to 2019. Results : There were 18 cases, and the majority of the patients were girls (61.1%). The mean age at diagnosis was 11.3 ± 3.7 (5-17) years, and nephritic-nephrotic syndrome presentation in patients was more common (11 cases, 61.1%). Hematuria was found in 66.7% of the patients, of which the majority had microscopic hematuria (58.3%). Hypertension was observed in 10 (55.6%) patients. The mean glomerular filtration rate (eGFR) was 95.7 ± 47.3 mL/min/1.73 m 2 , and 24-h urinary protein excretion was 76.2 ± 48.6 mg/m 2 /h. Sixteen patients (88.9%) received renin-angiotensin-aldosterone system blockers (RASB), and two of them were taking RASB only. The majority of patients (83.3%) were treated with immunosuppressive therapy. Eculizumab was also given to one of them. At the last follow-up, two patients had levels of less than 60 mL/min/1.73 m 2 for eGFR. Seven patients with immunosuppressive treatment achieved complete remission. Conclusion : C3G shows a variable clinical presentation and response to immunosuppressive therapy. In the present study, we observed that the most common presentation was nephritic and/or nephrotic syndrome and partially responded to treatment to RASB and immunosuppressants.

Background: Acute tubulointerstitial nephritis (ATIN) is a rare cause of acute kidney injury in children that can lead to chronic kidney disease. The aim of this study was to describe the presenting features, etiology, and clinical characteristics of childhood ATIN, and to evaluate treatment modalities and renal outcomes., Methods: The study included 38 patients who had been diagnosed with ATIN, were younger than 18 years old, and were admitted for at least 6 months of follow up., Results: The median age at diagnosis was 13.1 years (range 1.2-16.6 years). The female / male ratio was 1.37. The most common symptoms were abdominal pain (65.7%) and nausea / vomiting (55.2%). Twenty-three of the patients had a history of drug intake (60.5%), and the most active drugs in the etiology were non-steroidal anti-inflammatory drugs (56.5%). Eleven patients were given steroid therapy due to severe kidney involvement and rapid increases in serum creatinine values, and ten of those patients were drug-related ATIN cases. Other patients were given symptomatic treatment. Four patients needed several sessions of dialysis due to the severity of their acute renal failure. The follow-up creatinine and estimated glomerular filtration rate levels were not statistically different between the symptomatic and corticosteroid treated groups (P > 0.05)., Conclusions: Although our study was unable to show the beneficial effect of corticosteroid therapy on the extent of renal recovery, the use of steroids may be preferable in severe nephritis because of the rapid recovery of estimated glomerular filtration rate with corticosteroid therapy., (© 2020 Japan Pediatric Society.)

Congenital nephrotic syndrome (CNS) is a rare disorder characterized by massive proteinuria and marked edema manifesting in utero or during the first 3 months of life. CNS can be caused by congenital infections, allo-immune maternal disease or due to the genetic defects of podocyte proteins most commonly NPHS1. Here we present a case of Finnish-type congenital nephrotic syndrome along with feeding problems and abdominal distention which was diagnosed during follow-up as a gastric-duplication cyst with a novel mutation in the nephrin gene. CNS feeding problems are attributed mainly to primary disease but in literature there are case reports of patients with CNS and hypertrophic pyloric stenosis. NPHS1 is also expressed in the stomach tissue. Physicians should be aware of this rare extra-renal manifestation or coincidence of this rare disease.

Introduction: This study aimed to investigate the complication frequency and the changes in right heart geometry with different access types in the pediatric population., Methods: We included 32 consecutive patients aged between 10 and 19 and who underwent hemodialysis sessions via permanent hemodialysis catheter (n HC  = 18) or arterio-venous fistula (n AVF  = 14) between January 2013 and March 2018. We recorded and compared the complication frequency and the changes in echocardiography findings with different access types., Findings: Demographic data were similar in both groups. Number of new access creation (n HC  = 15 vs n AVF  = 1) and all complications (n HC  = 19 vs n AVF  = 6) were significantly higher in hemodialysis catheter group and the statistical analysis showed the superiority of arterio-venous fistula group in comparison of event-free survival (event-free patients; n AVF  = 8 (57%), n HC  = 3 (16%); p = 0.02). Control echocardiography showed impressive delta-change in right atrium diameter (p = 0.04), right ventricular end-diastolic volume (p = 0.004), right ventricular end-systolic volume (p < 0.001), and right ventricular free wall thickness (p = 0.009) in arterio-venous fistula group, but no significant difference between two groups in terms of delta-change of right ventricular ejection fraction (p = 0.35), fractional area change (p = 0.21), and tricuspid annular plane systolic excursion (p = 0.13) parameters., Conclusion: Arterio-venous fistula has lower risk of complications, but overloading stress on right heart chambers triggers remodeling process and geometrical changes, which can be early pieces of evidence of delayed right heart dysfunction in pediatric hemodialysis patients.

Dent disease is a rare X-linked recessive tubular disorder, characterized by the triad of low molecular-weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis. It is caused by mutations in the CLCN5 gene or OCRL gene. Thirty to 80% of affected males develop end-stage kidney disease between the ages of 30 and 50 years. Some children were reported to present with isolated persistent proteinuria and a part of these patients were diagnosed as having focal segmental glomerulosclerosis with kidney biopsy. Although there is no specific treatment, treatment of proteinuria and hypercalciuria is thought to delay the progression of the disease. For this reason, awareness of the disease findings and early diagnosis are important. In this case report, we present a boy followed-up with isolated persistent proteinuria and then diagnosed as having Dent disease with mutation analysis that showed c.328&#95;330delT (p.Phe110Trpfs27*) in the CLCN5 gene. The importance of researching low-molecular- weight proteinuria and considering Dent disease in the differential diagnosis of children presenting with isolated persistent proteinuria has been emphasized., (Copyright: © 2020 Turkish Archives of Pediatrics.)

Objectives: Familial Mediterranean fever (FMF) is a monogenic auto-inflammatory disease which might rarely cause glomerulopathy in patients. The aim of this study was to determine the clinical, demographic, and genetic characteristics and type of glomerular lesions in pediatric FMF patients who underwent kidney biopsy., Methods: The data of 30 pediatric FMF patients with biopsy-proven glomerulopathy were retrospectively reviewed. Patients were grouped into 2 categories as amyloid nephropathy (AN, n = 16) and non-amyloid nephropathy (N-AN, n = 14)., Results: The mean age at FMF diagnosis was 7.2 ± 3.0 years. The AN group showed higher rates of hypertension, higher levels of 24-h protein excretion and serum creatinine, and lower estimated glomerular filtration rate at the time of kidney biopsy. The rate of ESRD was found to be higher in the AN group (p = 0.011). Mesangioproliferative glomerulonephritis was the most common pathology in the N-AN group (21.4%). The frequency of amyloidosis was significantly higher in patients with homozygous p.M694V mutations than non-homozygous p.M694V mutations (p = 0.039)., Conclusions: In children with FMF, nephropathy is rare. To our knowledge, this is the first study performed in pediatric FMF patients exploring amyloid and non-amyloid glomerulopathies. Patients with AN had higher rates of proteinuria, lower estimated glomerular filtration rate levels, and higher blood pressure than N-AN patients at the time of biopsy., (© 2020 S. Karger AG, Basel.)

Background: Juvenile idiopathic arthritis (JIA) is the commonest chronic rheumatic disease among children. When not treated effectively, JIA can lead to functional disability, due to joint damage, along with long-term morbidities., Objectives: To describe the use of tocilizumab therapy for 11 patients with polyarticular JIA (pJIA) and systemic JIA (sJIA) who presented inadequate response or were refractory to disease-modifying anti-rheumatic drugs (DMARDs) and/or other biological therapies; and to evaluate its benefits, safety and tolerability., Design and Setting: Observational retrospective case series at a tertiary-level training and research hospital., Methods: We reviewed the medical records of 11 consecutive patients with JIA who received tocilizumab (anti-IL-6) therapy in our pediatric nephrology and rheumatology outpatient clinic. We analyzed their demographic data, clinical and laboratory findings, treatment response and adverse reactions. We determined the efficacy of tocilizumab treatment using the American College of Rheumatology (ACR) pediatric (Pedi) response criteria, including ACR Pedi 30, 50, 70 and 90 scores. We used the Wilcoxon test to compare measurements before and after treatment., Results: Tocilizumab was given to seven patients with sJIA and four with pJIA (one of the pJIA patients was rheumatoid factor-positive). In most patients, we observed improvement of symptoms, absence of articular and extra-articular inflammation and continued inactive disease. ACR Pedi 30, 50 and 70 scores were achieved by 90.9% of the patients. Five patients showed minor side effects, possibly due to use of tocilizumab., Conclusions: Tocilizumab therapy should be considered for treating patients with diagnoses of pJIA or sJIA who are resistant to non-biological DMARDs and/or other biological therapies.

Objective: To explore the frequency of MEFV gene mutations in children with Henoch-Schönlein purpura who had no prior familial Mediterranean fever diagnosis and to evaluate the association of MEFV mutations with the clinical and laboratory features of Henoch-Schönlein purpura., Methods: Data of 1120 patients diagnosed with Henoch-Schönlein purpura were reviewed retrospectively. The spectrum and degree of organ involvement and acute phase reactant levels were documented for each patient. Blood for MEFV gene mutation analysis was obtained either at the time of the Henoch-Schönlein purpura diagnosis or during follow-up visits. Pathological specimens of patients who underwent biopsy (renal/skin) were evaluated with special consideration for immunofluorescent examinations., Results: Two hundred and thirty-eight (21.3%) patients were found to have one of the MEFV mutations in which exon 10 mutations were the most common (16.7%). Abdominal pain, joint involvement, scrotal involvement, and relapse were more frequent, and acute-phase reactant levels were significantly high in patients with MEFV mutations. More severe characteristics were observed in the presence of homozygous exon 10 mutations. There was no significant association between exon 2 variants and clinical course of Henoch-Schönlein purpura. Patients carrying MEFV mutations did not have significantly higher levels of IgA deposits in the biopsy materials., Conclusion: Henoch-Schönlein purpura in patients with homozygous exon 10 MEFV mutations seems to be more severe than that in patients carrying other mutations. In patients with exon 10 MEFV mutations, Henoch-Schönlein purpura might be considered as an associated presentation of familial Mediterranean fever rather than a separate clinical entity. Key points • p.M694V mutation is more common in Henoch-Schönlein purpura than in the general population. • p.E148Q variants have no impact on clinical symptoms and laboratory findings in Henoch-Schönlein purpura patients. • The majority of Henoch-Schönlein purpura patients with familial Mediterranean fever have no IgA deposits. • Henoch-Schönlein purpura in familial Mediterranean fever patients may be considered as an integral clinical feature of familial Mediterranean fever.

Background: Henoch-Schönlein purpura (HSP) is the most common vasculitis in childhood. The long-term prognosis is variable and depends on renal involvement. The aims of this study were to investigate the clinical and laboratory characteristics of our HSP patients, to identify the risk factors for the development of Henoch-Schönlein purpura nephritis (HSPN) and to assess the efficacy of the Oxford Classification system for predicting renal outcomes., Methods: We performed a retrospective review of HSP patients who admitted to our center between 2001 and 2016, and were < 18 years on admission., Results: A total of 1120 children with HSP were analyzed. Their mean age was 7.4 ± 3.4 years. At onset, purpura was present in all cases, arthritis/arthralgia in 42.4%, abdominal involvement in 39% and renal involvement in 37%. Risk factors for the development of nephritis were age ≥ 8 years, atypical distribution of purpura, ESR > 20 mm/h and abdominal pain. Renal biopsy was performed on 75 patients before immunosuppressive treatment. The mesangial score was strongly associated with proteinuria. Segmental glomerulosclerosis, tubular atrophy/interstitial fibrosis, and crescent formation of ≥ 50% were associated with reduced eGFR at the time of biopsy. A Kaplan-Meier plot showed that segmental glomerulosclerosis and tubular atrophy/interstitial fibrosis significantly predict poor renal outcome., Conclusion: The long-term morbidity of HSP is predominantly attributed to renal involvement. Patients with HSP, who have a high risk to develop nephritis, could be followed for longer periods of time. The Oxford classification is useful in predicting long-term outcomes of HSPN.

Background: There is a growing body of evidence showing that there is an association between oxidative damage and kidney injury in patients with nephrotic syndrome (NS). Dynamic thiol/disulphide homeostasis (DTDH) is an important antioxidant system. The aim of this study was to determine if DTDH could be used as a biomarker of antioxidant status in pediatric NS patients using a novel automated method., Methods: The study included 39 patients with NS and 40 healthy controls. The DTDH level was measured using a calorimetric and automated method developed by Erel and Neselioglu. In the NS group, DTDH was measured during first-attack episode, relapse, and remission., Results: The native thiol, total thiol, and disulphide levels were significantly lower, the native thiol/total thiol ratio was significantly lower, and the disulphide/native thiol and disulphide/total thiol ratios were significantly higher in the NS patients during relapse and first-attack episode than during remission and in the controls. In addition, the native thiol and total thiol levels, and the native thiol/total thiol ratio were significantly lower, and the disulphide/native thiol and disulphide/total thiol ratios were significantly higher in the NS group during remission than those in the control group., Conclusions: The present findings show that DTDH shifted toward disulphide formation in the NS patients, even during remission. A clearer understanding of the mechanism of this disruption to homeostasis in NS patients might lead to the development of novel therapeutic strategies., (© 2019 S. Karger AG, Basel.)

Background: Increased ultrasonography (US) use has been correlated with an increased incidence of pediatric renal cysts. For simple and stage II cysts, the malignancy risk is low in adulthood, no follow up is recommended; but there is no consensus on childhood management. Given that pediatric renal cysts may be manifestations of hereditary cystic diseases, a different approach and follow up should be taken for these patients. Herein we present the clinical characteristics and follow-up data of pediatric patients with simple and stage II renal cysts., Methods: This cross-sectional study involved 57 children (mean age, 12.44 ± 3.65 years) with simple (n = 35) and stage II cysts (n = 22) who were diagnosed and followed at the present institution for ≥2 years., Results: The median follow-up period was 2.84 years for simple and 3.10 years for stage II cysts. None of the patients developed complications. No change in cyst diameter was detected in 65.7% of simple or in 45.5% of stage II cysts, whereas 13 simple cysts (37.1%) and eight stage II cysts (36.4%) increased in diameter. The diameter change per year was significantly higher in the stage II cysts than in the simple cysts (P = 0.017). Overall, 13 patients (22%) had an estimated glomerular filtration rate <90 mL/min/1.73 m 2 , and two patients had hypertension., Conclusion: Although the malignancy risk of simple and stage II kidney cysts is low for this age group, potential complications such as renal dysfunction, hypertension and hereditary cystic disease should be closely monitored., (© 2018 Japan Pediatric Society.)

Owing to an error in typesetting, the name of the author Atilla Halil Elhan was rendered wrongly. The original publication has now been corrected in this respect.

Background: Thiol/disulphide homeostasis plays a critical role in numerous intracellular enzymatic pathways including antioxidant defense and detoxification. This study was designed to investigate the impact of thiol/disulfide homeostasis in adolescent patients with recently diagnosed primary hypertension (HT) using a novel and automated method., Methods: Native thiol/disulphide levels were measured by a novel spectrophotometric method (Cobasc 501, Roche Diagnostics, Mannheim, Germany) in 30 patients with primary HT together with 30 healthy controls., Results: The levels of native thiol, total thiol, and native thiol/total thiol ratios were significantly lower, while the disulphide level, disulphide/native thiol, and disulphide/total thiol ratios were significantly higher in patients with primary HT compared with the control group. There were significant positive correlations between 24-h mean systolic and diastolic blood pressure and disulphide levels, disulphide/native thiol, and disulphide/total thiol ratios. A multiple linear regression model showed that a disulphide/native thiol ratio above 5 and family history of HT are independent predictors of HT., Conclusions: Our study showed that dynamic thiol/disulphide homeostasis shifted towards disulphide formation in adolescent patients with primary HT. Understanding the role of thiol/disulfide homeostasis in primary HT might provide new therapeutic intervention strategies for patients.

Familial Mediterranean fever (FMF), the most common hereditary autoinflammatory disorder is characterized by recurrent episodes of fever, serositis, arthritis. The major long-term result is amyloidosis. Colchicine remains the principle of the treatment; it not only prevents the acute attacks but also prevents the long-term complications such as amyloidosis; 5-10% of the patients are unresponsive to treatment. Recently new therapeutic options as anti-interleukin 1 agents are successfully used for the patients who do not respond to colchicine treatment. In this study, we retrospectively evaluated 11 pediatric colchicine-resistant FMF patients who were treated with canakinumab. Three of the patients had amyloidosis and two had uveitis. Based on our results, we suggest that canakinumab may be a safe and effective therapy in patients who are resistant to colchicine and even in the patients with amyloidosis. We also suggest that canakinumab might be a safe option for the patients with uveitis.