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Objective: We aimed to present the characteristics, genetic analysis results, long-term prognosis of our patients with distal kidney tubular acidosis, and the relationship between hyperammonemia and distal kidney tubular acidosis. Materials and Methods: Biochemical, clinical, and imaging findings were collected at presentation and the last clinic visit, and results of the genetic analysis were recorded. Results: Our study included 9 patients (3 female, 33%). The median age at diagnosis was 3 months, and the median follow-up period was 111 months. Height standard deviation scores were less than −2 in 4 (44%) patients at presentation and in 3 (33%) at the last clinic visit. The median estimated glomerular filtration rate was 98 mL/min/1.73 m2 at presentation and 126 mL/min/1.73 m2 at the last clinic visit. We have found 8 different types of mutations of 2 genes, including 6 in the ATP6V0A4 gene, 2 in the SLCA4A1 gene, and 2 of them were novel. At the time of presentation, nephrocalcinosis and hypercalciuria were present in all our patients, but at the last visit, only 1 patient had hypercalciuria. Sensorineural hearing loss was found in 4 of our patients with a mutation in the ATP6V0A4 gene. Serum ammonia levels were found to be high in 3 patients with mutations in the ATP6V0A4 gene. Conclusion: Adequate metabolic control is essential for optimal growth and preserved kidney function in distal kidney tubular acidosis patients. Distal kidney tubular acidosis may be associated with hyperammonemia. We recommend keeping potassium levels at high-normal levels to reduce ammonia levels, especially in the absence of acidosis.

Introduction: We aimed to evaluate cardiovascular risks and influencing factors by measuring aortic elasticity parameters and carotid intima thickness in children with cronic renal failure (CRF), and also evaluated the hydration status of patients with Bioimpedance spectroscopy (BIS) measurements and investigated the effect of hydration status on vascular functions. Metods: The study group consisted of 38 patients with CRF, their ages between 6 to 20 years (mean ± SD= 13.34 ± 3.74), of which 16 were girls and 22 were boys. The control group, which consisted of 31 healthy children between 7 and 16.5 years of age (mean ± SD= 12.1± 2.92), 16 girls and 15 boys). Left ventricular end-diastolic, end-systolic, left atrial diameters, interventricular septum, and left ventricular posterior wall thickness were measured. Systolic and diastolic diameters of the aortic annulus and aorta at each level were obtained; z-scores, aortic strain, distensibility, stiffness index were calculated. Carotid intima-media thickness and flow- mediated dilatation were studied. Bioimpedance spectroscopy was performed to all patients. Results: Interventricular septum and left atrial (p=0,002, p=0,013), sinus valsalva and sinotubular junction z scores (p=0,009, p=0,012) were found to be higher and distensibility and strain decreased, stiffness index increased in the abdominal aorta of patients with CRF (p=0,007, p=0,002, p=0,004). Patients with CRF had statistically significant over-hydration. Conclusion: Vascular wall changes that affect the elastic properties of the aortic wall begin to develop in childhood in patients with CRF. This is related to the severity of the disease and the patient’s hydration status.

There are various oral symptoms related to the disease and its management in individuals with chronic kidney disease (CKD). The aim of the study was to investigate the oral health status of children with different stages of CKD, kidney transplant recipients (KTR), and healthy children.A total of seventy-one children diagnosed with CKD and fifty-two healthy children were included in the study. Each patient was examined for dental caries by the decayed-missing-filled-teeth (DMFT/dmft) index and the International Caries Detection and Assessment System (ICDAS-II), developmental defects of enamel (DDE) by the DDE index, and oral hygiene by the debris (DI), calculus (CI), and simplified oral hygiene (OHI-S) indices.The median number of DMFT/dmft was 1.00 (interquartile range (IQR):1.00-4.00) in children with stage 1-3 CKD, 0.00 (IQR: 0.00-2.50) in stage 4-5 children, 0.00 (IQR: 1.00-3.00) in KTR, and 8.00 (IQR: 1.00-13.00) in healthy children. According to ICDAS-II categories, the percentage of children with severe caries was 53.8% in healthy children, while it was 44.4% in KTR, 25.9% in stage 1-3, and 11.4% in stage 4-5 children. While the percentage of children with DDE was 88.8% in KTR, 80% in stage 4-5, and 66.7% in stage 1-3 children, this rate was 44.2% in healthy children. The highest mean OHI-S score was observed in stage 4-5 children (2.10 ± 1.08), followed by KTR (1.46 ± 1.19), stage 1-3 (1.27 ± 0.61), and healthy children (0.45 ± 0.44), respectively.Compared to healthy children, children with CKD had more debris accumulation, calculus formation, and more DDE but a lower severity of dental caries. A higher resolution version of the Graphical abstract is available as Supplementary information.

Mortality in children with kidney failure is higher in girls than boys with cardiovascular complications representing the most common causes of death. Pulse wave velocity (PWV), a measure of vascular stiffness, predicts cardiovascular mortality in adults. Here, PWV in children with kidney failure undergoing kidney replacement therapy was investigated to determine sex differences and potential contributing factors. Two-hundred thirty-five children (80 girls; 34%) undergoing transplantation (150 pre-emptive, 85 with prior dialysis) having at least one PWV measurement pre-and/or post-transplantation from a prospective cohort were analyzed. Longitudinal analyses (median/maximum followup time of 6/9 years) were performed for PWV z-scores (PWVz) using linear mixed regression models and further stratified by the categories of time: pre-kidney replacement therapy and post-transplantation. PWVz significantly increased by 0.094 per year and was significantly higher in girls (PWVz + 0.295) compared to boys, independent of the underlying kidney disease. During pre-kidney replacement therapy, an average estimated GFR decline of 4 ml/min/1.73 m(2) per year was associated with a PWVz increase of 0.16 in girls only. Higher diastolic blood pressure and low density lipoprotein were independently associated with higher PWVz during pre-kidney replacement therapy in both sexes. In girls post-transplantation, an estimated GFR decline of 4ml/min/1.73m(2) per year pre-kidney replacement therapy and a longer time (over 12 months) to transplantation were significantly associated with higher PWVz of 0.22 and of 0.57, respectively. PWVz increased further after transplantation and was positively associated with time on dialysis and diastolic blood pressure in both sexes. Thus, our findings demonstrate that girls with advanced chronic kidney disease are more susceptible to develop vascular stiffening compared to boys, this difference persist after transplantation and might contribute to higher mortality rates seen in girls with kidney failure., German Federal Ministry of Education and Research [01EO0802]; European Renal Association -European Dialysis and Transplant Association; Roche Organ Transplant Research Foundation [365520785], This study was made possible by grants from the German Federal Ministry of Education and Research (#01EO0802), the European Renal Association -European Dialysis and Transplant Association (www.eraedta.org), and Roche Organ Transplant Research Foundation (#365520785). Several coauthors are members of the European Rare Kidney Disease Reference Network (ERKNet). This study has been presented as an abstract at the TTS (The Transplantation Society) 2020 Virtual Congress on September 14, 2020.

Objective: As increasing number of young people with renal diseases are reaching adulthood and issues related to their transition to adult units are getting more important. Failure to transfer adolescents under a well-designed transfer program can lead to a decline in attendance to an adult unit. We aim to share our experience and the views of the patients who went through a transition program. Material and Methods: We conducted a telephone questionnaire with 88 patients, who were asked to evaluate their con cerns before their transition and their experience during the visit in the adult nephrology unit after the transition process. Results: The mean age of participants was 19.21±0.97 years. Thirty patients (34%) had chronic kidney disease, and three of them were on dialysis. Three patients (3.4%) had a renal transplant at the time of transition. Fifty-one patients (58%) were felt anxious before the transition process. After their transfer to the adult unit, although 84 patients (95.5%) were satisfied to be in the adult unit, there were still 65 patients (74%) ready to return to the pediatric unit, if it was possible. Conclusion: Transition to the adult unit is still a cause of concern for adolescent patients, even if they are transferred under a well-designed program. It is important to raise awareness about transition programs among pediatricians and to develop a pedi atric-adult transition program for the medical and psychological well-being of patients.

Objective: Classical Bartter syndrome (cBS) and Gitelman syndrome (GS) are genotypically distinct, but there is a phenotypic overlapamong these two diseases, which can complicate the accurate diagnosis without genetic analysis. This study aimed to evaluate thecorrelation between clinical and genetic diagnoses among patients who have genetically defined cBS and GS.Patients and Methods: The study included 18 patients with homozygous/compound heterozygous CLCNKB (NM_000085) (n:10/18)and SLC12A3 (NM_000339) (n:8/18) mutations. Biochemical, clinical and radiological data were collected at presentation and at thelast visit.Results: In cBS group age at diagnosis, median plasma potassium and chloride concentrations were significantly lower and medianplasma HCO3 and blood pH values were significantly higher. Patients with GS had significantly lower median plasma magnesiumconcentrations and urinary calcium/creatinine ratio. One child with GS had normocalciuria, two children with cBS had hypocalciuriaand hypomagnesemia. Low estimated glomerular filtration rate (eGFR) (ml/dk/1.73m2) and growth failure were more evident in cBSgroup. In patients with cBS, nine different CLCNKB gene mutations were detected, five of them were novel. Novel mutations were:one nonsense (c.66G>A, p.Trp22*), one missense (c.499G>A, p.Gly167Ser) and three splice-site (c.867-2delA; c.499-2insG; c.1930-2A>C) mutations. In patients with GS, six different SLC12A3 gene mutations were found.Conclusions: It may not always be possible to clinically distinguish cBS from GS. We suggest to perform a genotypic classification ifgenetic analysis is possible.

[No Abstract Available], German Federal Ministry of Education and Research [01EO0802]; European Renal Association-European Dialysis and Transplant Association; Roche Organ Transplant Research Foundation [365520785], This study was made possible by grants from the German Federal Ministry of Education and Research (no. 01EO0802), the European Renal Association-European Dialysis and Transplant Association, and Roche Organ Transplant Research Foundation (no. 365520785). Several co-authors are members of the European Reference Network for Rare Kidney Diseases.

BACKGROUND AND AIMS Chronic kidney disease (CKD) is a complex medical and social problem worldwide due to high prevalence and mortality rates. According to the ESPN/ERA-EDTA, the prevalence of CKD stages 3–5 in children is about 55–60 pmarp [1]. Moreover, CKD usually causes different severe complications, including pathologic changes in the cardiovascular system, which significantly affect long-term survival. Unlike many complications of CKD, hypertension can be present in the earliest stages of the disease [2]. Nowadays, there has been a scientific and practical interest in Fibroblast growth factor 23 (FGF-23) which is mostly considered as a phosphate-regulating biomarker [3]. There are some speculations that FGF-23 affects blood pressure (BP) in adults due to the impact on the renin-angiotensin-aldosterone system (RAAS) by decreasing calcitriol [4] and the direct effect of FGF-23 on sodium reabsorption, which has been demonstrated in experimental models [5]. Therefore, the aim of our study was to investigate the link between FGF-23 and BP in children with CKD. METHOD There were 73 children with CKD stages 1–5, mean age was 9.79 ± 0.58 years. BP was determined by 3 times measurement and calculating the mean value. Received results were compared with percentile norms according to age and gender in order to divide patients into two groups: normotensive and hypertensive. FGF-23 was determined in serum by multimatrix ELISA kit (Biomedica Medizinprodukte GmbH, Austria). Statistical analysis was performed using SPSS version 26 (IBM, USA). RESULTS In the group with normal BP the median of FGF-23 in serum was 1.8 [0.7–3.4] pmol/L. In comparison, in the group with a hypertensive level of BP median indicator of FGF-23 was 7.6 (1.98–18.5) pmol/L (P CONCLUSION Our findings confirm that FGF-23 is linked to BP in children with CKD what makes us conclude that more careful attention to children with a high level of FGF-23 is needed in relation to hypertension and as a consequence cardiovascular complications. However, more investigations should be done in order to establish a causal relationship.

Background: Nephrotic Syndrome (NS) is one of the most common renal diseases in children. Clinical response to corticosteroids is an important prognostic factor for long-term renal outcome. We aimed to evaluate the clinical parameters, histopathological findings and complications of NS patients and factors predicting steroid resistance in a single tertiary center. Methods: A hundred and sixty two children (57 girls, 105 boys) with NS followed between 1998 and 2018 in Department of Pediatric Nephrology were analyzed in a retrospective cohort. Secondary causes and infantile NS cases were excluded. Results: The median (IQR; range) age of the children at presentation and follow up time were 4.9(5.7; 0.1-16.8) and 5.5(5.4; 0.1-20.3) years, respectively. A hundred and thirty four (82.7%) patients were steroid-sensitive nephrotic syndrome (SSNS) and 28(17.3%) were steroid-resistant nephrotic syndrome (SRNS). Age at the first presentation was lower in SSNS group (p=0.002). Hypertension, macroscopic and microscopic hematuria were higher in SRNS group (pConclusion:The late onset is still an important sign for SRNS. Microscopic and macroscopic hematuria and hypertension may also give a hint for potential steroid resistance. We emphasize that FSGS is a biopsy finding that may reveal to different diagnosis in SRNS.

The study aims to present the incidence of COVID-19 in pediatric patients undergoing renal replacement therapy (RRT) and to compare the severity and outcomes of the disease between the dialysis and kidney transplant (KTx) groups. This multicenter observational study was conducted between 1 April and 31 December 2020 in Istanbul. Members of the Istanbul branch of the Turkish Pediatric Nephrology Association were asked to report all confirmed cases of COVID-19 who were on RRT, as well as the number of prevalent RRT patients under the age of 20. A total of 46 confirmed cases of COVID-19 were reported from 12 centers, of which 17 were dialysis patients, and 29 were KTx recipients. Thus, the incidence rate of COVID-19 was 9.3% among dialysis patients and 9.2% among KTx recipients over a 9-month period in Istanbul. Twelve KTx recipients and three dialysis patients were asymptomatic (p = 0.12). Most of the symptomatic patients in both the dialysis and KTx groups had a mild respiratory illness. Only two patients, one in each group, experienced a severe disease course, and only one hemodialysis patient had a critical illness that required mechanical ventilation. In the entire cohort, one hemodialysis patient with multiple comorbidities died. Conclusion: while most cases are asymptomatic or have a mild disease course, pediatric patients undergoing dialysis and a kidney transplant are at increased risk for COVID-19. What is known: in adult population, both dialysis patients and kidney transplant recipients are at increased risk for severe illness of COVID-19 and have higher mortality rate. Children with kidney transplantation are not at increased risk for COVID-19 and most have mild disease course. Data on children on dialysis are scarce. What is new: pediatric patients undergoing dialysis and kidney transplantation have an increased risk for COVID-19. Most patients undergoing renal replacement therapy either on dialysis or transplanted develop asymptomatic or mild COVID-19 disease with a favorable outcome., NA

Background. Antiphospholipid syndrome (APS), particularly the catastrophic antiphospholipid syndrome (CAPS), is one of the rare causes of thrombotic microangiopathy (TMA). CAPS is the most severe form of APS, especially when accompanied by complement dysregulation, causes progressive microvascular thrombosis and failure in multiple organs. In this report, a case of CAPS with TMA accompanied by a genetic defect in the complement system is presented.Case. A 13-year-old girl was admitted to the hospital with oliguric acute kidney injury, nephrotic range proteinuria, Coombs positive hemolysis, refractory thrombocytopenia, a low serum complement C3 level and anti-nuclear antibody (ANA) positivity. The kidney biopsy was consistent with TMA. She was first diagnosed with primary APS with clinical and pathological findings and double antibody positivity. As initial treatments, plasmapheresis (PE) was performed and eculizumab was also administered following pulse -steroid and intravenous immunoglobulin treatments. Her renal functions recovered and she was followed up with mycophenolate mofetil, hydroxychloroquine, low dose prednisolone and low molecular weight heparin treatments. The patient presented with severe chest pain, vomiting and acute deterioration of renal functions a few months after the diagnosis of TMA. A CAPS attack was considered due to radiological findings consistent with multiple organ thrombosis and intravenous cyclophosphamide (CYC) was given subsequent to PE. After pulse CYC and PE treatments, her renal functions recovered, she is still being followed for stage-3 chronic kidney disease. Complement factor H-related protein I gene deletion was detected in the genetic study.Conclusions. The clinical course of complement mediated CAPS tends to be worse. Complement system dysregulation should be investigated in all CAPS patients, and eculizumab treatment should be kept in mind if detected.

Various molecular and cellular processes are involved in renal fibrosis, such as oxidative stress, inflammation, endothelial cell injury, and apoptosis. Heat shock proteins (HSPs) are implicated in the progression of chronic kidney disease (CKD). Our aim was to evaluate changes in urine and serum HSP levels over time and their relationships with the clinical parameters of CKD in children. In total, 117 children with CKD and 56 healthy children were examined. The CKD group was followed up prospectively for 24 months. Serum and urine HSP27, HSP40, HSP47, HSP60, HSP70, HSP72, and HSP90 levels and serum anti-HSP60 and anti-HSP70 levels were measured by ELISA at baseline, 12 months, and 24 months. The urine levels of all HSPs and the serum levels of HSP40, HSP47, HSP60, HSP70, anti-HSP60, and anti-HSP70 were higher at baseline in the CKD group than in the control group. Over the months, serum HSP47 and HSP60 levels steadily decreased, whereas HSP90 and anti-HSP60 levels steadily increased. Urine HSP levels were elevated in children with CKD; however, with the exception of HSP90, they decreased over time. In conclusion, our study demonstrates that CKD progression is a complicated process that involves HSPs, but they do not predict CKD progression. The protective role of HSPs against CKD may weaken over time, and HSP90 may have a detrimental effect on the disease course. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12192-021-01239-9.

The aim of the study is to present incidence of COVID-19 in children with renal replacement therapy (RRT) and compare the severity and outcomes of the disease between the groups undergoing dialysis and kidney transplantation (KTx). This multicenter observational study was based on data collected from children receiving RRT, either chronic dialysis or KTx, diagnosed with COVID-19. All members of the Istanbul branch of the Turkish Pediatric Nephrology Association were requested to submit all their confirmed COVID-19 cases between April 1 and December 31, 2020. They were also asked to report the number of their prevalent patients on RRT under the age of 20. A total of 46 RRT patients diagnosed with COVID-19 were reported from 12 centers. Of these, 29 were KTx recipients, and 17 were on dialysis. COVID-19 cases represented 9.3% of all prevalent dialysis patients and 9.2% of all prevalent KTx recipients. Twelve KTx recipients (41.4%) and three dialysis patients (17.6%) were asymptomatic (p = 0.12). The hospitalization rate was higher in dialysis patients than KTx recipients (82.4% vs. 27.6%, p = 0.001). Two patients, one in each group, experienced a severe disease course, and only one hemodialysis patient had a critical illness that required mechanical ventilation. Acute kidney injury developed in 36% of KTx recipients, but none required dialysis or lost their graft. In the entire cohort, one patient on hemodialysis with multiple comorbidities died.Conclusion: Although most of cases were asymptomatic or had a mild disease, children on RRT seem to have an increased risk for COVID-19.

Background and Aims Alport syndrome (AS) is an inherited glomerular basement membrane disease caused by mutations in COL4A3, COL4A4 or COL4A5 genes. Recently, it has been reported that focal segmental glomerulosclerosis (FSGS) can be seen in AS and COL4A mutations can be detected in FSGS. In this study, we aimed to define the clinical characteristics of patients with genetically confirmed AS, in order to establish genotype-phenotype correlation and investigate the effects of different treatment regimes. Method A total of 87 pediatric AS patients included in this multicenter study. We retrospectively collected data from medical records and requested other centers to fill out a questionnaire, which included data regarding patient demographic features, family history, clinical and laboratory characteristics at first presentation, histopathological (if available) and genetic tests results, treatments and yearly follow-up results. Results A total of 87 (41 female, 46 male) genetically confirmed AS patients (COL4A5, n=43; COL4A3, n=25; COL4A4, n=19) were studied. Mean age at first presentation was 7.6±4.1 years and the median follow-up duration was 4.3 years (IQR 1.9–7.3). 14 (16.1%) of 87 patients presented with nephrotic syndrome (NS); renal biopsy findings showed FSGS in 11 (79%) of 14 patients with NS, and COL4A3 mutations were the most common (n=7, 50%) in this group. Of 14 NS patients, 12 received steroid, 11 received cyclosporine (CsA) and 4 received other immunosuppressives prior to genetic diagnosis. The inheritance pattern of the patients with NS was consistent with ARAS in 10 patients (71.4%), XLAS in 3 patients (21.4%), and ADAS in 1 patient (7.2%). During follow up, glomerular filtration rate (GFR) decreased below 90 ml/min/1.73 m2 in 24 of 87 patients (27.5%). COL4A3 mutations (n=14, 58.3%) were the leading genetic abnormality in patients who progressed to chronic kidney disease (CKD). At the last visit, GFR loss was significantly higher in patients with COL4A3 mutations when compared to patients with COL4A4 and COL4A5 mutations (p=0.04). Among patients with NS, 9 of 14 (64.2%) progressed to CKD. Genetic results of patients with NS who progressed to CKD were COL4A3 in 6 (66.7%), COL4A4 in 2 (22.2%) and COL4A5 in 1 (11.1%) patients. In survival analysis, renal survival rate without CKD was 12.1 years (95% CI: 6.7-17.5). After the first presentation, the 5-year cumulative risk of CKD was 51.8%, 12.6%, and 12.9% in patients with COL4A3, COL4A4 and COL4A5 mutations, respectively (p=0.001). We observed that patients with COL4A3 mutations, ARAS inheritance pattern, histopathology of FSGS or NS presentation progressed to CKD earlier (p Conclusion Detailed analyses of data from genetically confirmed Turkish patients with AS provided important clues regarding to the presentation, course and outcomes of the disease. COL4A3 mutations, ARAS inheritance pattern, NS presentation and FSGS finding in renal biopsy are major risk factors for progression to CKD. We recommend genetic testing for patients suspected of having AS. Furthermore, COL4A mutations should be considered in patients with FSGS and steroid resistant NS. This approach will shed light on the prognosis of patients and help with definitive diagnosis, preventing unnecessary and potentially harmful medications.

Background Sclerostin and osteoprotegerin (OPG) are new markers of chronic kidney disease (CKD) mediated mineral bone disease (CKD-MBD) which were extensively evaluated in adult population. We aimed to evaluate the associations between serum levels of sclerostin/OPG and parameters of bone turnover and compare the serum levels of sclerostin/OPG in different stages of CKD in children. Methods 70 children with CKD stage 1-5, aged 2-21 years were examined. Serum levels of alkaline phosphatase (ALP), creatinine, total calcium, phosphorus , intact parathyroid hormone (iPTH) and vitamin D were measured. Serum sclerostin and OPG levels were measured in children with different levels of CKD stage and their association with bone turnover parameters were noted. Results We did not observe any significant correlation between serum levels of sclerostin and OPG and stages of CKD. A negative relationship was present between serum sclerostin and 25-OH vitamin D levels. Osteoprotegerin was positively and significantly correlated with ALP but serum sclerostin was negatively correlated with ALP. Conclusion Our study, which includes only children and adolescents with a growing skeleton under uremic conditions and excluding diabetes and atherosclerosis interference, is very valuable. We couldn't find any significant relationship between either sclerostin or OPG levels among different stages of CKD. Also our study demonstared a strong negative relationship between ALP and sclerostin levels and a strong positive relationship between ALP and OPG levels, reminding the importance of ALP levels to predict the bone-mineral status of the children with CKD.

Sekonder psödohipoaldosteronizm (PHA), böbrek tübüllerininaldosterona duyarsızlığı ile karakterize, hiperkalemi,hiponatremi ve metabolik asidoz ile kendini gösteren nadirbir durumdur. Obstrüktif üropatisi olan bebeklerde vepiyelonefrit sırasında görülebilir. Gelişimi devam eden erkenbebeklik dönemi böbreği, üriner sistemin obstrüktif anomalisive enfeksiyonu sekonder PHA hastalarında tübüluslardaaldosteron direncine neden olan üç önemli faktördür. Genelliklehiponatremi, hiperkalemi ve metabolik asidoz ilk bulgulardır,tetkiklerde belirgin olarak yükselmiş plazma renin ve aldosteronseviyelerinin saptanması ile tanı konur. Süt çoçuklarındabiyokimyasal incelemede hiperpotasemi, hiponatremi vemetabolik asidoz saptandığında konjenital adrenal hiperplaziayırıcı tanısında PHA göz önünde bulundurulmalı ve buhastalarda üriner ultrasonografisi (USG) ve idrar analizi rutinolarak yapılmalıdır. Bu yazımızda sekonder PHA gelişenposterior üretral valv (PUV)‘lı iki hasta sunuldu., Secondary pseudohypoaldosteronism (PHA) is a rare conditionthat presents with hyperkalemia, hyponatremia, and metabolicacidosis, which develops due to renal tubular unresponsivenessto aldosterone. It may be seen in infants with obstructiveuropathy and acute pyelonephritis. Three important reasons ofthe aldosterone unresponsiveness of the tubules are early infancykidney, obstructive uropathy, and urinary tract infection. Besidesother findings, diagnosis is established with highly increasedplasma aldosterone and renin levels. In infants who present withhyperkalemia, hyponatremia, and metabolic acidosis, PHA shouldbe considered in the differential diagnosis of congenital adrenalhyperplasia. Urinary ultrasonography and urine analysis should beperformed in these patients. Herein, we present two patients withsecondary PHA caused by posterior urethral valves.

Summary Introduction Damage to the glycosaminoglycan layer of the urothelium, which is composed of hyaluronic acid (HA), may increase the possibility of bacterial adherence and infections. Patients with neurogenic bladder (NB) who perform clean intermittent catheterization (CIC) 4–6 times a day are also under great risk for recurrent urinary tract infections (RUTIs). Objective The aim of this study was to assess the efficacy and safety of intravesical HA in reducing the frequency of RUTIs in patients with spina bifida (SB) and NB, who perform CIC. Materials and methods Ten patients (nine girls, one boy) with SB and NB affected by RUTIs received intravesical instillation of HA. Ten patients (seven girls, three boys) with SB and NB who did not accept the intravesical HA therapy were included in the control group. All patients developed symptomatic RUTIs, which occurred at least three times in the previous 12 months. The study group was treated with intravesical 40 mg HA (Hyacyst®) weekly for four weeks, then monthly for the consequent three months. Recurrence of UTIs before and after the treatment was analyzed. Results The mean age of the study group and the controls were 11.1 ± 4.8 (3.2–18.6) and 9.3 ± 5.4 (2.1–16.2) years, respectively. The mean UTIs per patient-month in the study group and the controls were 0.34 ± 0.05 and 0.35 ± 0.06, respectively. The mean follow-up time after the treatment was 16.6 ± 6.9 months in the study group and 16 ± 6.1 months in the controls. The mean UTIs per patient-month significantly decreased in the study group after the treatment (p Discussion To the best of the authors' knowledge, this study is the first one evaluating the efficacy of intravesical HA in the treatment of RUTIs in children with SB and NB. However, this study has several limitations, such as the small sample size and short follow-up time. Conclusion The findings of the present study indicate that intravesical HA is an effective and safe treatment that reduces RUTIs in patients with SB and NB, who perform CIC. Summary Table . Data of study and control groups Study Group Control Group p Age (years) 11.1 ± 4.8 9.3 ± 5.4 0.44 Gender (F/M) 9/1 7/3 0.26 UTI ppm before HA 0.34 ± 0.059 0.35 ± 0.06 0.77 UTI ppm after HA 0.11 ± 0.07 0.39 ± 0.07 Follow-up time (month) 16.6 ± 6.9 16 ± 6.1 0.83 Serum creatine (mg/dl) 0.33 ± 0.07 0.41 ± 0.14 0.13 UTI: urinary tract infection, F: female, M: male, ppm: per patient-month, HA: hyaluronic acid.

The severity and duration of immunosuppression caused by corticosteroids (CSs) usage have not been extensively studied. We aimed to investigate the effects of CSs on the various compartments of immune system in relation to timing of initiation and persistence of therapy. Pediatric patients with idiopathic nephrotic syndrome (NS) treated with 2 mg/kg/day prednisolone and healthy control (HC) were enrolled. Blood samples were drawn for immunologic analyses at baseline and at the first and second weeks and first, second, and third months of CS therapy in addition to first and second weeks and first, second, and third months of discontinuation. Fourteen patients (M/F, 7/7) between 1 and 8 years old were evaluated. Untreated NS exhibited high absolute lymphocyte count (ALC)(p = 0.010), absolute CD3(+) T cells (p = 0.020) and absolute CD8(+) T cells (p = 0.006) compared to HC. Suppression in ALC was observed and nadir value was noted at first month of therapy compared to baseline (p = 0.002). The CD4(+) (p = 0.036) and CD8(+) T cell (p = 0.013) counts decreased significantly at the first week of treatment compared to baseline. While baseline B cell counts was indifferent from HC, gradually increased in 2 weeks of CS initiation and decreased during the treatment with a statistical significance compared to HC (p = 0.010). However, after cessation of CS, B cell counts continued to decline and found to be significantly different than baseline at first week (p = 0.008) and at third month (p = 0.040).Apart from baseline lymphocyte subset changing observed in untreated NS patients, our data implies that T cells were suppressed very early in the CS treatment. Interestingly, depressed B cell counts were detected later but persisted even after CS cessation. Due to early decrease in T cells, it would be beneficial to assume the patients as immunosuppressed at the very beginning of CS treatment to avoid infections.• Corticosteroids (CSs) are widely used for a variety of diseases including nephrotic syndrome, which is related with complex immune disturbance including T and B cells dysfunctions. • CSs induce neutrophilic leukocytosis concomitant with lymphopenia and eosinopenia leading to immunosupression. What is New: • T cell subsets and proliferation are susceptible to CSs more than B cells; however, the reversibility is faster with dose reduction in CS. • The change of B cells and B cell subtypes (CD27 (+) memory) shows prolonged effect of CSs on B cells which may alter antibody production even after 3 months of CSs cessation.

Background/aim: We analyzed the clinical and pathological features and prognosis of 106 children with persistent asymptomatic microscopic hematuria (PAMH) with or without mild proteinuria. Materials and methods: This was a retrospective study of 106 children who were referred to our clinics from 2000 to 2013 for evaluation of PAMH. Results: Among the 106 patients, 69 (65%) were female and 37 (35%) were male. The patients were divided into two groups: 101 patients with isolated microscopic hematuria (IMH) and 5 patients with asymptomatic microscopic hematuria and mild proteinuria (AMHP). Renal biopsy was performed in all 5 children with AHMP: 2 patients had hereditary nephropathy and 2 patients had focal segmental glomerulosclerosis (FSGS). One biopsy specimen revealed nonspecific findings. Renal biopsy was performed in 9 children with IMH: 4 patients had hereditary nephropathy and 5 patients had nonspecific findings. None of the patients received any specific treatment prior to renal biopsy. During the follow-up period, none of the patients developed impaired renal function. Among all the children, only one patient with AMHP developed hypertension and 2 patients with IMH developed proteinuria. Conclusion: Long-term follow-up must be done carefully for isolated microscopic hematuria and renal biopsy should be performed in selected cases.

Objective: Various factors are responsible for uremic anorexia. Increase in serum leptin levels and uremic toxins stimulate melanocortin hormone receptors to increase energy consumption and reduce food intake. In this study, we investigated renal excretion of leptin by comparing serum leptin concentrations of healthy controls, and children with chronic renal failure.& para;& para;Methods: Serum leptin, leptin / BMI, albumin, glucose, creatinine, urea, triglyceride and cholesterol levels were eveluated in a total of 33 pediatric patients followed up for chronic renal failure and 29 healthy children in the control group.& para;& para;Results: Serum leptin levels (18.49 +/- 28.55) and leptin / BMI (0.94 +/- 1.36) in female patients were higher than leptin (7.73 +/- 5.65) and leptin / BMI (0.39 +/- 0.25) in the control group (p>0.05). In male patients, serum leptin levels (1.48 +/- 1.36; 4.88 +/- 3.70) and leptin/ BMI (0.08 +/- 0.081; 0.25 +/--0.16) were found to be lower than those of the control group (p

The study investigated a number of biomarkers for the early diagnosis of contrast-induced nephropathy (CIN), which is an important cause of acute kidney injury (AKI).The study included 91 children scheduled for elective cardiac angiography and 50 healthy controls. Biomarkers including serum (s) and urinary (u) sodium, serum and u-creatinine, s-cystatin-C, serum neutrophil gelatinase-associated lipocalin (NGAL) and urinary N-acetyl beta glucosaminidase (u-NAG)/creatinine ratio were measured 4 times sequentially in the patients and once in the controls.The patient group comprised 40 males (44%) and 51 females (56%) while the control group comprised 16 males (32%) and 34 females (68%). Age, gender, s-creatinine, estimated-glomerular filtration rate (eGFR), s-cystatin-C and fractional-excretion of sodium did not differ significantly between the groups. Serum sodium and s-NGAL were found to be lower in the patients than those of in the controls, while their u-NAG/creatinine ratio was found to be higher. Sequential data analysis revealed that s-NGAL and u-NAG/creatinine ratio increased in the first 6 h after radiocontrast media (RCM) administration and decreased at 12 and 24 h. Serum BUN and s-cystatin-C levels also showed a significant difference during the 24-h follow-up. eGFR, s-sodium and s-creatinine levels did not change in the following period. Serum cystatin-C levels revealed a significant negative correlation with eGFR. Administered RCM doses showed a positive correlation only with u-NAG/creatinine ratios.In the first 24 h, s-cystatin-C, s-NGAL and especially u-NAG/creatinine ratio showed promise as biomarkers, but eGFR is not adequate for early diagnosis of CIN. Sequential measurement of biomarkers may contribute to more accurate diagnosis of AKI.

Objective To investigate the effect of intravesical hyaluronic acid on Escherichia coli-induced cystitis and cystitis-induced hypercontractility in rats. Methods Bacterial cystitis was induced in Wistar female rats by intravesical inoculation of E. coli. Isotonic saline was instilled in the control group (n = 6). The rats were either non-treated, treated with gentamycin (4 mg/kg, 5 days) or treated intravesically with hyaluronic acid (0.5 mL, 0.5%). On the eighth day, the bladder tissues were excised for histological examination, and the measurements of myeloperoxidase, superoxide dismutase and catalase activities. Contraction/relaxation responses to carbachol, isoprotrenol and papaverine were studied. Results Tissue myeloperoxidase activity was increased, but superoxide dismutase and catalase activities were decreased in bacterial cystitis, while hyaluronic acid treatment reversed these changes. In the hyaluronic acid-treated group, healing of the uroepithelium was observed, while decreased inflammatory cell infiltration was obvious in gentamycin-treated group. E. coli-induced cystitis in all rats resulted in increased contraction responses to carbachol compared with controls (P

WOS: 000493307500019 PubMed ID: 30215773 Background. Management of children with congenital nephrotic syndrome (CNS) is challenging. Bilateral nephrectomies followed by dialysis and transplantation are practiced in most centres, but conservative treatment may also be effective. Methods. We conducted a 6-year review across members of the European Society for Paediatric Nephrology Dialysis Working Group to compare management strategies and their outcomes in children with CNS. Results. Eighty children (50% male) across 17 tertiary nephrology units in Europe were included (mutations in NPHS1, n = 55; NPHS2, n = 1; WT1, n = 9; others, n = 15). Excluding patients with mutations in WT1, antiproteinuric treatment was given in 42 (59%) with an increase in S-albumin in 70% by median 6 (interquartile range: 3-8) g/L (P< 0.001). Following unilateral nephrectomy, S-albumin increased by 4 (1-8) g/L (P = 0.03) with a reduction in albumin infusion dose by 5 (2-9) g/kg/week (P = 0.02). Median age at bilateral nephrectomies (n = 29) was 9 (7-16) months. Outcomes were compared between two groups of NPHS1 patients: those who underwent bilateral nephrectomies (n = 25) versus those on conservative management (n = 17). The number of septic or thrombotic episodes and growth were comparable between the groups. The response to antiproteinuric treatment, as well as renal and patient survival, was independent of NPHS1 mutation type. At final follow-up (median age 34months) 20 (80%) children in the nephrectomy group were transplanted and 1 died. In the conservative group, 9 (53%) remained without dialysis, 4 (24%; P< 0.001) were transplanted and 2 died. Conclusion. An individualized, stepwise approach with prolonged conservative management may be a reasonable alternative to early bilateral nephrectomies and dialysis in children with CNS and NPHS1 mutations. Further prospective studies are needed to define indications for unilateral nephrectomy. National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust and University College, London; National Institute for Health Research (NIHR)National Institute for Health Research (NIHR) This work was supported by the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust and University College, London. R.S. holds a Career Development Fellowship with the National Institute for Health Research (NIHR).

The correlations between ambulatory blood pressure measurements (ABPM) and serum cystatin C (Cys C), serum creatinine (Cr), microalbumin (MA), and β2-microglobulin (β2-MG) levels in 24 h (24-h) urine were analyzed in children with solitary kidney (SK) and compared to healthy children. Fifty children with normal functioning SK and 25 controls were studied. The ABPM, serum Cys C, serum Cr, MA, and β2-MG levels in 24-h urine were measured in all children. Clinical symptoms and signs, laboratory results, urinary ultrasonography, voiding cystourethrography, and Dimercaptosuccinic acid (DMSA) scintigraphy results were recorded in the SK group. Four patients with Wilms’ tumor and two with renal scarring were excluded from the study. The mean ages of the SK group and controls were 9.6 ± 3.6 and 9.3 ± 3.3 years, respectively. The serum Cys C and Cr levels, 24-h urinary β2-MG and MA levels were similar in both groups (p > 0.05). However, 24-h urinary MA excretion was higher in patients living with SK more than 5 years (p = 0.01). Standard deviation scores of ABPM parameters showed no significant correlation with serum Cr, serum Cys C, MA, and β2-MG in 24-h urine of both groups. Children with SK have increased 24-h urinary MA excretion in the long term, and need prolonged follow-up to detect early deterioration of renal function and to prevent end-organ damage later in life.

Objectives: To evaluate the presence of upper urinary tractdeterioration (UUTD) and accompanying pathologies in childrentreated with the diagnosis of non-neurogenic bladder-sphincterdysfunction (NNBSD).Patients and Methods: We retrospectively reviewed themedical records of 316 consecutive patients with NNBSDwho were treated. All cohort were grouped into two: Group I(Treatment success; n=284), Group II (Treatment failure with anyform of occult spinal pathology; n=32). Thirty-four children withtreatment-failure and normal magnetic resonance imaging (MRI)findings were excluded. Groups were compared for pre- and posttreatmentpediatric lower urinary tract symptom score (PLUTSS),presence of UUTD and urodynamic findings.Results: The mean PLUTSS was significantly less in Group Icompared with Group II at pre-treatment and 3 months thereafterthe initial treatment (12.20 ± 5.90 and 5.20 ± 4.90 vs 20.3 ± 2.14and 18 ± 3.4, respectively p20 cmH2O and presence of vesicoureteral reflux (VUR)., Amaç: Nörojenik olmayan mesane–sfinkter fonksiyon bozukluğu(NOMSFB) tanısıyla tedavi edilen çocuklarda üst üriner sistemhasarı (ÜÜSH) ve eşlik eden patolojilerin araştırılmasıdır.Hastalar ve Yöntemler: NOMSFB nedeniyle kliniğimizdetedavi edilen 316 çocuğun tıbbi kayıtları retrospektif olarakincelendi. Çocuklar, tedavi yanıtına ve magnetic resonansgörüntüleme (MRG) bulgularına göre iki gruba ayrıldılar: GrupI (Tedaviye yanıt verenler; n=284) ile Grup II (Tedaviye dirençliolup, lomber MRG’sinde gizli spinal disrafizm bulgusu olanlar;n=32). Tedaviye dirençli olup lomber MRG’sinde patolojisaptanmayan 34 çocuk çalışma dışı bırakıldı. Gruplar tedavi öncesive sonrası semptom skoru (SS), ÜÜSH ile ürodinami bulgularıaçısından karşılaştırıldı.Bulgular: Tedavi öncesi dönemde ve tedavi başladıktan üçay sonra, Grup I’in ortalama SS’si Grup II’ye göre anlamlı olarakdüşük saptandı (sırasıyla 12,20 ± 5,90 ve 5,20 ± 4,90 karşın 20,3± 2,14 ve 18 ± 3,4; p

OBJectIVe: The aim of this study is to evaluate the influence of the ambulatory status of children with MMC on renal functions, clinical and radiological findings. MAteRIAl and MetHODS: The records of 83 children with MMC between 2005-2010 were reviewed retrospectively. The ambulatory status of the patients was classified as independent walkers (walks without assistive appliances), assisted walkers (requires walking aid), and non-ambulatory (wheelchair bound) and the patient characteristics were evaluated according to the ambulatory status. resUlTs: The mean age was 7.1±0.61 years and median follow-up was 58 (32-97) months. Thirtyseven patients (44.6%) had been operated in the first three days of life. The patients with earlier initiation of follow-up earlier had less hydronephrosis and trabeculated bladder. Sixty-one children (73.5%) were non-ambulatory, 14 (16.9%) were assisted walkers and eight (9.6%) were independent walkers. GFR was less than 80 ml/minute/1.73m2 in six patients. There were no relation between ambulatory status and patients’ renal functions, radiological and clinical findings. cOncluSIOn: Ambulatory status does not influence renal functions, clinical and radiological findings of children with MMC. Beginning follow-up earlier may lead to fewer complications such as hydronephrosis and deformed and trabeculated bladder. Besides, patients operated in the first three days of life were more compliant with regular follow-ups. key wORDS: Meningomyelocele, Renal function, Ambulatory status doi: 10.5262/tndt.2012.1003.10 Yazisma Adresi: Meryem Benzer Marmara Universitesi, Pediatrik Nefroloji Bilim Dali, Istanbul, Turkiye Gsm : 0 505 914 02 69 E-posta : mbenzer1@hotmail.com Gelis Tarihi : 20.02.2011 Kabul Tarihi : 17.08.2011

The purpose of this study was to compare the outcome of infants having antenatally detected urinary tract abnormalities (AUTAs) with respect to the presence of hydronephrosis in postnatal ultrasonography (US) examination. Between January 1999 and October 2009, 256 infants diagnosed with AUTAs were prospectively followed. Infants were divided into two groups according to the presence of hydronephrosis in postnatal US examination: Group 1, infants with hydronephrosis; Group 2, infants without hydronephrosis (including renal cyst, agenesis, ectopic kidney). The events of interest were the presence and diagnoses of uropathy, AUTA resolution, urinary tract infection (UTI), development of renal parenchymal defects (RPDs)—focal or global scarring, dysplasia—, acute kidney injury (AKI) and chronic kidney disease (CKD), and the need for surgery and dialysis treatment. The most commonly detected underlying abnormalities were ureteropelvic junction obstruction (44.8 %), vesicoureteral reflux (VUR) (30.0 %) and megaureter (9.5 %) in patients with postnatal hydronephrosis. On the other hand, multicystic dysplastic kidney (43.5 %), renal agenesis (19.4 %) and VUR (19.4 %) were mostly encountered abnormalities in patients without postnatal hydronephrosis. RPDs were significantly more common among patients with postnatal hydronephrosis compared to those without hydronephrosis (37 vs. 21 %, P = 0.02). The incidence of UTI and VUR was higher in infants with postnatal hydronephrosis than in infants without hydronephrosis. There was no statistically significant difference in terms of the development of AKI and CKD and the need for surgery and dialysis treatment between patients with hydronephrosis and those without hydronephrosis. Infants with AUTAs should be investigated postnatally. The findings from this study will help to identify the natural history and outcome of infants with AUTAs according to the postnatal US parameters.

The role of magnetic resonance imaging (MRI) in detecting occult spinal dysraphism (OSD) in children with voiding dysfunction and a normal neurological examination is still under debate. The aim of this study was to assess the correlation of sacral skin lesions with OSD detected on MRI, in a population of children with resistant lower urinary tract symptoms (LUTS).A total of 114 children over 5 years of age with urinary tract infection (UTI) and/or LUTS and normal neurological examination were enrolled. All children underwent sacral neurological examination, urine analysis and cultures, renal/bladder ultrasound, voiding cystourethrogram and urodynamic examination. After a treatment period of 6 months, the patients were re-evaluated and spinal MRI was performed in 61 with ongoing LUTS or UTI.Nineteen of 61 children (31%) had cutaneous stigmas. MRI detected spinal abnormality in 2/42 children with a normal sacral examination in comparison to 7/19 children with an abnormal sacral finding (Chi-squared test, P0.005). The sensitivity and specificity of an abnormal sacral finding in predicting MRI abnormality were 0.76 and 0.77, respectively. Urodynamic parameters did not predict an abnormal spinal MRI.Abnormal sacral findings, but not urodynamic studies, are strong predictors of OSD. A normal sacral examination does not rule out OSD.

Ozet Amac: Cocuklarda yenidogan donemi sonrasi yapilan sunnetin idrar yolu enfeksiyonu sikligi uzerine etkisini degerlendirmektir nbsp; Gerec ve Yontem: Idrar yolu enfeksiyonu geciren yaslari 1 70 ay ortanca 5 ay arasinda 56 erkek cocuk calismaya alindi Tum hastalara bobrek ultrasonografisi ve dimerkaptosuksinik asit sintigrafisi basvuruda uygulandi ldquo;Iseme sistouretrografisi rdquo; secilmis hastalara yapildi Otuz uc hastada vezikoureteral reflu tespit edilmedi 23 hastada 1 3 dereceli vezikoureteral reflu vardi Hastalardan duzenli araliklarla idrar kulturleri alindi idrar yolu enfeksiyonu idrar kulturunde gt;105 cfu ml tek bir organizmanin uremesi olarak tanimlandi Idrar ornegi basina sayi ve takip suresi ay boyunca gecirilen idrar yolu enfeksiyonu sikligi sunnet oncesi ve sonrasi degerlendirilerek karsilastirildi nbsp; Bulgular: Idrar yolu enfeksiyonu sikligi kultur basina sunnet oncesi ortanca 0 33 IR; 0 21 ve sunnet sonrasi 0 0 IR; 0 50 bulundu Takip suresi boyunca gecirilen idrar yolu enfeksiyonu sikligi sunnet oncesi ortanca 0 37 IR; 0 51 ve sunnet sonrasi 0 0 rsquo;di IR; 0 0 Vezikoureteral reflusu olmayanlar ve dusuk dereceli reflusu olanlar icin ayri ayri analiz yapildiginda benzer sekilde sunnet sonrasi idrar yolu enfeksiyonu sikliginin her iki grupta azaldigi goruldu Cikarimlar: Bu calismada yenidogan donemi sonrasi yapilan sunnetin vezikoureteral reflusu olan ve olmayan hastalarda idrar yolu enfeksiyonu sikligini azalttigi gosterilmistir Turk Ped Ars 2010; 45: 137 40 Anahtar sozcukler: Cocuk idrar yolu enfeksiyonu sunnet

Ozet Echinococcus granulosis dunyada sik gorulen bir sestod enfeksiyonudur. Ozellikle gelismekte olan ulkelerde endemiktir. Bir cok organi etkilemekle birlikte, en cok tutulan organlar karaciger ve akcigerlerdir. Bobrek tutulumu tum vakalarin ancak %2-4'unde gorulecek kadar nadirdir. Bobrek tutulumu diger organ tutulumlariyla beraber olabilecegi gibi nadiren izole tutulum da olabilir. Bu yazida, izole bobrek kisti olan ve karaciger ile birlikte bobrek tutulumu olan iki kist hidatik olgusu sunulmus, cocuklarda bobrek kistlerinin ayirici tanisinda kist hidatik hastaligina dikkat cekmek amaclanmistir. (J Pediatr Inf 2014; 8: 44-6) Anahtar kelimeler: Hidatik kist, bobrek tutulumu, ayirici tani, karin agrisi Abstract Echinococcus granulosus is the most widespread, serious human cestode infection in the world. It is especially endemic in developing countries. It may involve many organs but the most involved organs are the liver and the lungs. Renal involvement is rare, comprising only 2% to 4% of cases. Renal cyst may be isolated or with cysts in other organs. In this report, we present two cases, the first with isolated renal hydatid cyst and the second with multiple renal cysts and a hepatic cyst. We aimed to draw attention to hydatid cyst disease in the differential diagnosis of renal cysts in children. (J Pediatr Inf 2014; 8: 44-6)

Hypochloremic metabolic alkalosis occurs in pseudo-Bartter’s syndrome (PBS) without a primary renal tubular defect. Usually seen in cystic fibrosis, this syndrome can also be caused by recurrent vomiting for various reasons. We present a case of multiple gastrointestinal anomalies, each by itself capable of causing the clinical condition, in a 10-day-old infant with PBS. Int J Clin Pediatr. 2014;3(4):114-116 doi: http://dx.doi.org/10.14740/ijcp174w

ozkaya, ozan/0000-0002-0198-1221; AKMAN, SEMA/0000-0001-7131-8911; Ozcakar, Zeynep/0000-0002-6376-9189; kavukcu, salih/0000-0002-9959-881X; WOS: 000278951200013 PubMed: 20383649 Herein the results of a multicenter study from the Turkish Pediatric Kidney Transplantation Study Group are reported. The aims of this study were to compare the quality of life (QoL) scores of Turkish children who are dialysis patients (DP), renal transplant recipients (TR), and age-matched healthy controls and to compare child-self and parent-proxy scores. The Turkish versions of the Kinder Lebensqualitat Fragebogen (KINDLA (R)) questionnaires were used as a QoL measure. The study group consisted of 211 children and adolescents with chronic kidney disease (CKD) (139 TR and 72 DP aged between 4-18 years; 13.7 A +/- 3.5 years) from 11 university hospitals, 129 parents of these patients, 232 age-matched healthy children and adolescents (aged between 4-18 years; 13.1 +/- 3.5 years) and 156 of their parents. Patients with CKD had lower scores in all subscales except for physical well-being than those in the control group. TR had higher scores in physical well-being, self-esteem, friends' subscales, and total scores than DP. Child-self scores were lower than parent-proxy scores, especially in CKD, DP, and control groups. Concordance between parent-proxy and child-self reports in the TR, DP, CKD, and control groups was only moderate for the majority of subscales (r = 0.41-0.61). It was concluded that parent-proxy scores on the QoL were not equivalent to child-self scores and that evaluating both children's and parents' perspectives were important. Additionally, psychosocial counseling is crucial not only for patients with CKD but also for their parents.

Gökçe İ, Altuntaş Ü, Filinte D, Alpay H. Polyarteritis nodosa in case of familial Mediterranean fever. Turk J Pediatr 2018; 60: 326-330. Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent self-limited attacks of fever accompanied by peritonitis, pleuritis, and arthritis. Protracted febrile myalgia syndrome (PFMS) is a rare form of vasculitic disease which is an uncommon dramatic manifestation of FMF, characterized by severe crippling myalgia and high fever. Polyarteritis nodosa (PAN) is a systemic necrotizing vasculitis affecting medium or small arteries. It is rarely observed in children, but its incidence increases in the presence of FMF. In this article we described a 14-year-old child diagnosed with FMF associated with PAN. Physicians should be aware of this possible association.

WOS: 000447379800010, PubMed ID: 30325125, To evaluate the value of Positional Installation of Contrast (PIC) and Redo-PIC cystography in patients with febrile recurrent urinary tract infection (f-UTI) where voiding cystourethrogram (VCUG) was negative. Patients with recurrent f-UTI with no reflux on VCUG referred to the outpatient clinic of Pediatric Urology, between June 2011 and June 2016 were included in the study. A PIC cystography was performed in all patients. When reflux was found, subureteric injection was performed. Urinary cultures were used for follow-up. Patients that continued having f-UTI, received redo-PIC cystography. PIC cystography was performed on 42 patients. The average age of patients was 8.0 +/- 3.6 years. Vesicoureteral reflux (VUR) was detected in 41 patients. Average follow-up time after PIC cystography was 44.6 months. Thirty-three patients (80.5%) were free of f-UTI after PIC cystography and concurrent subureteric injection. Eight patients continued to have recurrent f-UTI. Six of these patients underwent redo-PIC cystography and PIC-VUR was demonstrated in all patients. After an average follow up of 30.9 months, no f-UTI was seen in these patients. The success rate of 80.5% (33/41) after 1st PIC cystography and subureteric injection increased to 95.1% (39/41) after redo-PIC cystography in six patients. Patients with recurrent f-UTIs without VUR on VCUG are an important challenge. PIC cystography is an important tool in demonstrating occult VUR in these patients. We advise that PIC cystography is performed in all patients with recurrent f-UTI with negative VCUG and redo-PIC cystography in patients who continue to have f-UTI after 1st PIC cystography and subureteric injection.

The objective of this study was to assess the urine levels of interleukin-6 (IL-6) and interleukin-8 (IL-8) as noninvasive markers of vesicoureteral reflux (VUR) and renal parenchymal scarring (RPS) in children in the absence of a recent urinary tract infection (UTI) episode. Urine concentrations of IL-6 and IL-8 in 114 children aged 1 month to 16 years were evaluated. The children were divided into four groups: group 1, 26 children with VUR and RPS; group 2, 27 children with VUR without RPS; group 3, 34 children with RPS without VUR, group 4, 27 children without VUR and RPS, as the control group. After the first assessment, the children were divided into four larger groups for comparison purposes: group A (groups 1+2), 53 children with VUR; group B (groups 3+4), 61 children without VUR; group C (groups 1+3), 60 children with RPS; group D (groups 2+4), 54 children without RPS. Urinary IL-6 and IL-8 concentrations were determined. To avoid dilution effects and to the standardize samples, urinary levels of IL-6 and IL-8 were expressed as the ratio of cytokine to urinary creatinine (pg/mg). The median urine IL-6/creatinine was significantly higher in patients with VUR than in those without VUR (5.72 vs. 3.73). In patients with VUR, there was a significant but rather weak correlation between IL-6/creatinine concentrations and the reflux grade (p < 0.05, R = 0.305). The median urine IL-8/creatinine was significantly higher in patients with RPS than in those without RPS (43.12 vs. 16.36). In patients with RPS, there was a significant but rather weak correlation between IL-8/creatinine concentrations and the renal scar grade (p < 0.05, R = 0.251). The results of this study provide preliminary evidence that children with VUR have a high urine IL-6 concentration, whereas children with RPS have a high urine IL-8 concentration.

Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD, but approximately half of patients referred for molecular studies do not have detectable mutations in SMARCAL1. We hypothesized that skeletal features distinguish between those with or without SMARCAL1 mutations. Therefore, we analyzed the skeletal radiographs of 22 patients with and 11 without detectable SMARCAL1 mutations. We found that patients with SMARCAL1 mutations have a spondyloepiphyseal dysplasia (SED) essentially limited to the spine, pelvis, capital femoral epiphyses, and possibly the sella turcica, whereas the hands and other long bones are basically normal. Additionally, we found that several of the adolescent and young adult patients developed osteoporosis and coxarthrosis. Of the 11 patients without detectable SMARCAL1 mutations, seven had a SED indistinguishable from patients with SMARCAL1 mutations. We conclude therefore that SED is a feature of patients with SMARCAL1 mutations and that skeletal features do not distinguish who of those with SED have SMARCAL1 mutations. Electronic supplementary material The online version of this article (doi:10.1007/s00431-009-1115-9) contains supplementary material, which is available to authorized users.

We evaluated the clinical, radiological and metabolic features of 162 children with urolithiasis or microlithiasis who had been referred to our pediatric nephrology clinics between 1998 and 2008 with suspected urolithiasis. The medical histories of these children (78 girls, 84 boys), who ranged in age from 2 months to 16 years (mean age 5.59±0.35 years), were reviewed retrospectively for clinical and metabolic features of urinary tract calculi. Urinary tract infections (UTI) were present in 45.9% of the cases. The most common presenting symptoms were flank pain or restlessness (25.3%) and hematuria (21.6%), followed by UTI (16%), whereas 23.5% of the cases were detected incidentally during evaluation for other medical conditions. Other symptoms at presentation included dysuria, passing stones, penile edema, enuresis, vomiting and anorexia. Urine analysis revealed metabolic abnormalities in 87% of the cases, including hypercalciuria (33.8%), hypocitraturia (33.1%), hyperoxaluria (26.5%), hyperuricosuria (25.4%), hypocitraturia + hypercalciuria (21.1%), hyperphosphaturia' (20.8%) and cystinuria (5.7%). Almost 50% of the patients had a positive family history for urolithiasis. The most frequently involved site was in the kidneys (86%). Ureters and bladder were involved in 12 and 2% of the cases, respectively. A family history of urolithiasis, presenting symptoms and underlying metabolic abnormalities were similar for microlithiasis and the patients with larger stones. However, in our study population, microlithiasis was mainly a disease of young infants, with a greater chance for remission and often not associated with structural changes. The presenting symptoms of urolithiasis show a wide spectrum, so that a high index of suspicion is important for early detection. A metabolic abnormality can be identified in 87% of cases of urolithiasis. Detection of microlithiasis may explain a number of symptoms, thus reducing invasive diagnostic procedures and allowing early recognition of metabolic abnormalities. These results draw attention to the importance of screening for UTIs in patients with urolithiasis. © IPNA 2009.

The correlation between timing of the primary neurosurgical repair and urological prognosis in infants with open spinal dysraphism remains unknown. We investigated the impact of primary repair timing on neurogenic bladder prognosis in children with myelomeningocele.We retrospectively reviewed the records of 401 children with myelomeningocele followed at our multidisciplinary clinic between 1996 and 2005. Among these patients 129 were included in the study based on the availability of urological followup data at age 3 years, which was chosen as an ideal point for the standardization of urological findings. Children were assigned to 1 of 2 groups-those who underwent primary neurosurgical repair within 72 hours of delivery (group 1) and those undergoing repair after 72 hours (group 2). We compared the incidence of febrile urinary tract infections, hydronephrosis, vesicoureteral reflux and secondary tethering of the spinal cord at age 3 years, as well as cystometric bladder capacity and detrusor leak point pressure between the 2 groups.Urological followup data at age 3 years revealed significantly increased incidence of febrile urinary tract infections, vesicoureteral reflux, hydronephrosis and secondary tethering of the spinal cord in children in group 2 compared to group 1 (chi-square, por =0.05 for all comparisons). Urodynamic assessment also showed a significantly lower bladder capacity and a substantially higher detrusor leak point pressure in children who received primary repair at later than 72 hours (t test, p0.05). A subgroup analysis of group 1 comparing children who underwent repair before and after 24 hours following delivery failed to demonstrate any significant difference in terms of febrile urinary tract infections, vesicoureteral reflux, hydronephrosis and secondary tethering (chi-square, p0.05 for all comparisons), whereas mean bladder capacity was significantly higher (t test, p0.05) and mean detrusor leak point pressure was lower (t test, p = 0.08) in children undergoing repair within 24 hours of delivery.The timing of primary neurosurgical repair has a significant impact on neurogenic bladder prognosis in children with myelomeningocele. Closure of the spinal lesion on the first day of life seems to provide the best chance for favorable lower urinary tract function.