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Background Children are one of the most vulnerable groups in conflict zones, especially those with chronic diseases. This study aimed to investigate kidney disease profiles and problems during follow-up in a population of Syrian refugee children residing in Turkey. Methods Syrian refugee children aged between 0 and 18 years were included in the study. Demographic data, diagnosis, particular interventions due to nephrological problems, and problems encountered during follow-up were obtained from all participating pediatric nephrology centers. Results Data from 633 children from 22 pediatric nephrology centers were included. Mean age of the children was 94.8 ± 61.7 months and 375 were male (59%). 57.7% had parental consanguinity and 23.3% had a close relative(s) with kidney disease. The most common kidney diseases were congenital anomalies of the kidney and urinary tract (CAKUT) (31.0%), glomerular disease (19.9%), chronic kidney disease (CKD) (14.8%), and urolithiasis (10.7%). Frequent reasons for CAKUT were nonobstructive hydronephrosis (23.0%), vesico-ureteral reflux (18.4%), and neurogenic bladder (15.8%). The most common etiology of glomerular diseases was nephrotic syndrome (69%). Ninety-four children had CKD, and 58 children were on chronic dialysis. Six children had kidney transplantation. Surgical intervention was performed on 111 patients. The language barrier, lack of medical records, and frequent disruptions in periodic follow-ups were the main problems noted. Conclusions CAKUT, glomerular disease, and CKD were highly prevalent in Syrian refugee children. Knowing the frequency of chronic diseases and the problems encountered in refugees would facilitate better treatment options and preventive measures., Author(s): Ayse Balat [sup.1] , Beltinge Demircioglu Kilic [sup.1] , Bagdagul Aksu [sup.2] [sup.3] [sup.4] , Mehtap Akbalik Kara [sup.1] , Mithat Buyukcelik [sup.1] , Ayse Agbas [sup.4] , Fehime [...]

Background Alport syndrome (AS) is an inherited glomerular disease caused by mutations in COL4A3, COL4A4, or COL4A5. Associations between clinical manifestations and genotype are not yet well defined. Our study aimed to define clinical and genetic characteristics, establish genotype-phenotype correlations, and determine prognosis of AS in children. Methods A total of 87 children with AS from 10 pediatric nephrology centers, whom had genetic analyses performed at the Hacettepe University Nephrogenetics Laboratory between February 2017 and February 2019, were included. Data regarding demographics, family history, clinical and laboratory characteristics, histopathological and genetic test results, treatments, and yearly follow-up results were retrospectively analyzed. Results Of 87 patients, 16% presented with nephrotic syndrome. In patients with nephrotic syndrome, kidney biopsy findings showed focal segmental glomerulosclerosis (FSGS) in 79%, and COL4A3 mutations were the leading genetic abnormality (50%). Twenty-four percent of all patients progressed to chronic kidney disease (CKD). The rate of progression to CKD and the decline in the glomerular filtration rate of the patients with COL4A3 mutation were higher than other mutation groups (p < 0.001 and p = 0.04, respectively). In kidney survival analysis, nephrotic syndrome presentation, histopathology of FSGS, COL4A3 mutations, and autosomal recessive inheritance were found as independent risk factors for earlier progression to CKD. Cyclosporin A treatment did not improve kidney survival. Conclusions We emphasize that genetic testing is important for patients suspected as having AS. Furthermore, COL4A mutations should be considered in patients with FSGS and steroid-resistant nephrotic syndrome. This approach will shed light on the prognosis of patients and help with definitive diagnosis, preventing unnecessary and potentially harmful medications., Author(s): Gulsah Ozdemir [sup.1] , Bora Gulhan [sup.1] , Emine Atayar [sup.2] , Seha Saygili [sup.3] , Oguz Soylemezoglu [sup.4] , Zeynep Birsin Ozcakar [sup.5] , Fehime Kara Eroglu [sup.6] [...]

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., Author(s): Evrim Kargin Çakici [sup.1] , Fehime Kara Eroglu [sup.1] , Fatma Yazilitas [sup.1] , Mehmet Bülbül [sup.1] , Gökçe Gür [sup.1] , Özlem Aydog [sup.2] , Tülin Güngör [sup.1] [...]

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., Author(s): Evrim Kargin Çakici [sup.1] , Fehime Kara Eroglu [sup.1] , Fatma Yazilitas [sup.1] , Mehmet Bülbül [sup.1] , Gökçe Gür [sup.1] , Özlem Aydog [sup.2] , Tülin Güngör [sup.1] [...]

Background: CD80 (also known as B7‐1) is a co‐stimulatory molecule that is expressed in biopsies and also excreted in urine in patients with minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS). CD80 is inhibited by the cytotoxic T‐lymphocyte‐associated‐antigen 4 (CTLA4), which is mainly expressed on regulatory T cells (Tregs). Ineffective circulating Treg response is involved in the pathogenesis of nephrotic syndrome. In this study, we evaluated CD80 expression and infiltrating Tregs in children with MCD and FSGS. Methods: Evaluation of CD80 expression and semi‐quantitative evaluation of Tregs (FOXP3‐positive CD4 T cells) were carried out in 31 kidney biopsies (12 MCD, 19 FSGS) with immunofluorescence and immunohistochemistry staining. Results: All MCD sections were stained negative; whereas six out of 19 FSGS sections (all from steroid‐resistant (SR) patients), including one from a Wilms' tumor 1 (WT1) mutation‐positive FSGS patient, stained positive for anti‐CD80 goat antibody, and negative for anti‐CD80 rabbit antibody. FSGS biopsy specimens had significantly higher FOXP3‐positive cells/mm2 compared with MCD and control samples (P < 0.001). Biopsy samples from SR‐FSGS patients (n = 12) with positive CD80 staining (n = 6) had significantly less Tregs (FOXP3‐positive CD4 T cells) compared with CD80 (−) biopsies (n = 6; P = 0.004). Conclusion: CD80 expression was not detected in the majority of the archival biopsy sections and the results were not consistent across the different antibodies. In the SR‐FSGS sections, however, CD80‐positive biopsies had decreased FOXP3‐positive CD4 T cells, suggesting that a decreased anti‐inflammatory milieu may be the cause of increased CD80 expression. [ABSTRACT FROM AUTHOR]

Lupus anticoagulant hypoprothrombinaemia syndrome (LAC-HPS) is a rare disorder, defined by the presence of an acquired factor II (FII) deficiency and lupus anticoagulant (LAC) (Rapaport et al. [8]). Discussion Lupus anticoagulant is an antiphospholipid antibody directed against the phospholipid-protein complexes, which inhibit the phospholipid-dependent coagulation tests I in vitro i (Rapaport et al. [8]). Antiphospholipid antibodies: anticardiolipin and the lupus anticoagulant in systemic lupus erythematosus (SLE) and in non-SLE disorders. [Extracted from the article]

Objectives: The aim of this study was to present the genetic and clinical data of the largest cohort of Turkish cryopyrin-associated periodic syndromes (CAPS) patients., Methods: This is a two-centre descriptive study of Turkish children with clinical diagnosis of CAPS. NLRP3 analyses were performed by Sanger sequencing and by massively parallel sequencing. ASC dependent NF-κB activation and transfection-induced THP-1 cell death assays determined the functional consequences of the detected variants. Disease activity and response to anti interleukin 1 (anti-IL-1) treatment was also assessed., Results: Heterozygous germline NLRP3 mutation was detected in 8 of 14 enrolled patients (57.1%). Two novel somatic mutations Y560H and G307D were found which induced both THP-1 cell death and ASC dependent NF-kB activation. With anti-IL-1 treatment the disease activity was improved in all patients except one. Except two patients with macrophage activation syndrome (MAS) attack, there were no serious adverse events requiring hospitalisation., Conclusions: CAPS should be considered in all patients with typical symptoms even if Sanger-based genetic analysis is negative, since a considerable number of patients have mosaicism. Treatment should be patient-tailored and MAS should be considered as a rare complication.