ADCK4 mutations are one of the most common causes of adolescent-onset albuminuria and/or CKD of unknown etiology in Turkey. CoQ10 supplementation appears efficacious at reducing proteinuria, and may thereby be renoprotective.

The most common cystinosis gene mutations identified in Turkey were c.681G>A (p.Glu227Glu), c.1015G>A (p.Gly339Arg), and c.18_21 del (p.Thr7Phefs*7). Patients with less severe cystinosis gene mutations tend to have better kidney outcome.

Evaluating and treating renal stone disease in infants are technically challenging. In this study, we evaluated the surgical treatment of renal stones in children under 1 year of age. We retrospectively reviewed the records of patients under 1 year old who were treated with ESWL, endourological or open surgical procedures for renal stone disease between January, 2009 and December, 2012. The patients' age, gender, stone size, stone location and number, complications, stone-free status, and postoperative complications were recorded. 19 of 121 infants with a mean age of 10.2 ± 3.07 months were treated with surgical procedures. Six (75%) of eight cystinuria patients required a surgical intervention. Retrograde endoscopic management was performed in thirteen patients (63.4%) as an initial surgical approach. There were three major (15.7%) complications. The rate of open surgical procedures was 31.6% (6 of 19 infants). The cutoff value of stone size for open surgery was 10 mm. There was a significant relationship between the conversion to open procedures and stone size, stone location, and symptom presentation especially the presence of obstruction (p < 0.05). After repeated treatments, the stone clearance rate of RIRS reached 84.6%. Retrograde intrarenal surgery is an effective and safe treatment method for renal stones in infants and can be used as a first-line therapy in most patients under 1 year old. This is especially important if an associated ureteral stone or lower pole stone that requires treatment is present and for patients with cystinuria, which does not respond favorably to ESWL.

Background: Since the early 2000s rituximab (RTX) has been thought of as an alternative treatment for steroid-sensitive nephrotic syndrome (SSNS) and steroid-resistant nephrotic syndrome (SRNS). Objective: This study aimed to determine the effects of RTX treatment on disease outcome and growth in pediatric SSNS and SRNS patients. Materials and Methods: The medical records of pediatric SSNS and SRNS patients that began RTX treatment at the mean age of 10.8 ± 5.1 years between 2009 and 2017 were retrospectively reviewed. Additionally, the effect of RTX on growth was evaluated based on patient height, weight, and BMI z scores. Results: The study included 41 children, of which 21 had SSNS and 20 had SRNS. Mean age at diagnosis of NS was 5.8 ± 4.7 years. Mean duration of post-RTX treatment follow-up was 2.3 ± 1.6 years. Among the SSNS patients, 6 and 11 patients were steroid free and calcineurin inhibitor free at the last follow-up visit, respectively. The 1-year cumulative steroid and calcineurin inhibitor doses both decreased after RTX treatment, as compared to before RTX ( P = 0.001 and P = 0.015, respectively). The median height z -score at the time of RTX initiation was −1.2 and the median height z -score at the last follow-up visit was −0.6 ( P = 0.044). The median BMI z -score decreased from 1.6 (IQR; 0.9–3.0) at the time RTX was initiated to 1.1 IQR; [(−0.7)−2.5] at the last follow-up visit ( P = 0.007). At the last follow-up visit 4 SRNS patients had complete remission and 4 had partial remission. The 1-year cumulative steroid dosage in the SRNS patients decreased significantly after RTX, as compared to before RTX ( P = 0.001). The median height z -score at the time of RTX initiation was −0.8 and the median height z -score at the last follow-up visit was −0.7 ( P = 0.81). The median BMI z -score decreased from 0.3 at the time RTX was initiated to −0.1 at the last follow-up visit ( P = 0.11). Conclusion: RTX has a more positive effect on disease outcome and growth in SSNS patients than in those with SRNS.

BackgroundCD80 (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.MethodsEvaluation 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.ResultsAll 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).ConclusionCD80 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.