BackgroundManaging congenital nephrotic syndrome (CNS) remains a clinical challenge. While albumin infusions and nephrectomy have been long-standing treatments, a conservative approach is increasingly favored. This study aimed to compare clinical outcomes between nephrectomy (Nx) and non-Nx in patients with bi-allelic NPHS1 mutations.MethodsThis retrospective cohort study included 29 pediatric CNS patients (15 female, 14 male) with confirmed NPHS1 mutations. Clinical parameters including albumin infusion requirements, infections, hospitalizations, growth, and survival rates were analyzed in the Nx and non-Nx groups.ResultsThe median age at the time CNS was diagnosed was 29 days (IQR: 11–62 days). In all, 24 patients (82.8%) had homozygous NPHS1 mutations and 5 (17.2%) had compound heterozygous NPHS1 mutations. None of the patients had Fin-major mutation (i.e., p. Leu41 Aspfs*50). Unilateral/bilateral nephrectomy was performed in 16 patients. At 12 months post-nephrectomy the number of albumin infusions required, infections, and hospitalizations decreased significantly in the Nx group, as compared to the pre-nephrectomy period (p = 0.001, p = 0.027, and p = 0.004, respectively). Among the 13 (44.8%) patients in the non-Nx group, at 12 months after CNS was diagnosed the number of serum albumin infusions required significantly decreased (p = 0.007); however, the number of infections and hospitalization did not differ significantly (p = 0.589 and p = 0.5, respectively). Receiver operating characteristic (ROC) analysis showed that requiring albumin infusions ≥ 14 days/month predicted the decision to perform nephrectomy with 68% accuracy (73% sensitivity and 62% specificity).ConclusionsNephrectomy reduces albumin infusions, infections, and hospitalizations, suggesting it may be a beneficial treatment for selected CNS patients with NPHS1 mutations.Graphical abstractA higher resolution version of the Graphical abstract is available as Supplementary information

BackgroundWe describe our single-center experience in performing donor-derived cell-free DNA (dd-cfDNA) testing for a clinical indication in pediatric kidney transplant recipients.MethodsDd-cfDNA was done for increase in creatinine, appearance of de novo anti-HLA antibodies (dnHLAab) and for a clinical indication. We compared clinical characteristics of patients with dd-cfDNA > 1 with those with dd-cfDNA ≤ 1 and also compared dd-cfDNA in patients with no biopsy proven rejection (BPAR) or dnHLAab with those with BPAR, and those with dnHLAab and no BPAR.ResultsChart review was performed in 106 patients with a mean age of 11.0 ± 5.5 years. When compared with 62 patients with dd-cfDNA ≤ 1, 59.0% (26/44) of patients with dd-cfDNA > 1 had BPAR (OR 13.5: 95%CI 4.6,38; p < 0.0001), and 88.1% (37/44) had dnHLAab (OR 60.3 95%CI 17.2,192.2; p < 0.0001). Patients with DQ and DR dnHLAab (OR 115.2: 95%CI 24.8, 509.5; p < 0.0001) and those with donor-specific antibodies (DSAs) (OR 50.8: 95%CI 13.0, 168.7; p < 0.0001) were likely to have dd-cfDNA > 1. A repeated measures linear mixed effect model revealed a significant difference in dd-cfDNA between those with no antibodies or BPAR (p < 0.0001) and patients with BPAR and dnHLAab, with or without DSA. At the end of the follow-up period, eGFR was 72 mL/min/1.73 m2 in those without BPAR or dnHLAab and was significantly different from those with BPAR (eGFR 51 mL/min/1.73 m2 (p < 0.0001).ConclusionsElevated dd-cfDNA is strongly associated with BPAR, class II dnHLAab and DSAs. Conversely, low values are observed in immunoquiescent states. Dd-cfDNA can be a useful tool for non-invasive clinical decision-making.Graphical abstractA higher resolution version of the Graphical abstract is available as Supplementary information

BackgroundThis study investigates the efficacy of renal artery angioplasty for pediatric renovascular hypertension (RVH) and describes the role of pre-procedural diagnostic imaging.MethodsClinical data of patients who underwent angioplasty for RVH from July 2014–May 2023 at a single, tertiary-care children’s hospital were retrospectively analyzed. Renal angiography was performed in 74 children, mean age: 10.6 years (range, 3mos–20y). Mean follow-up: 2.5 years (range, 4d–10.4y). 45 angioplasty procedures were performed on 28 patients.Results11(39.3%) were cured (normotensive, no anti-hypertensive medications), 10(35.7%) were improved (improved BP, decreased anti-hypertensive dose or number of meds), and 7(25%) failed (no improvement) following 1st angioplasty. Of the 17 patients who improved/failed, 12 had a 2nd angioplasty procedure. Of those, 3(25%) were treated with cutting-balloons. 2(16.7%) were cured, 8(66.7%) improved, and 2(16.7%) failed. 5 patients underwent a 3rd angioplasty procedure. 4(80%) were treated with cutting-balloons. 3 (60%) of the 5 patients were cured, 2 (40%) improved. In all, 16/28(57.1%) of patients were cured, and 12/28(42.9%) improved. 19 patients with abnormal angiography had normal CTA(10), MRA(3), and US(17). 14 patients with normal angiography had abnormal CTA(4), MRA(2), and US(13).Major complication rate was 8.9%(4/45) and included renal artery stent with residual in-stent stenosis, arterial extravasation following cutting-balloon angioplasty, arterial dissection, and vasospasm, partially resolved with nitroglycerin/TPA.ConclusionsAngioplasty is an efficacious treatment for pediatric RVH, but may require more than one procedure to achieve successful clinical results. Angiography should be pursued when RVH is suspected, as other imaging modalities are commonly discordant with angiography.Graphical A higher resolution version of the Graphical abstract is available as Supplementary information

BackgroundThe aim of this study was to compare the oral health findings and salivary parameters of children with different stages of chronic kidney disease (CKD) with those of healthy peers.MethodsIntraoral examinations were performed on 43 children aged 8–17 years with CKD and 40 healthy controls from the same pediatric nephrology clinic. Oral health was assessed using the DMFT/dft indices (decayed-missing-filled-teeth), debris index (DI), calculus index (CI), and simplified oral hygiene index (OHI-S). Saliva samples from the children were analyzed for salivary flow rate (SFR), pH, buffering capacity (BC), total oxidant status (TOS), total antioxidant capacity (TAOC), urea, creatinine (Cr), calcium (Ca), potassium (K), phosphorus (P), and salivary α-amylase (SAA). Spearman’s rho coefficient was used to examine the relationship between salivary and serum biomarkers levels and oral health findings.ResultsWhile the DMFT/dft scores were lower in children with CKD (p = 0.001), DI, CI, and OHI-S scores were higher in healthy peers (p < 0.001). Children with CKD had lower SFR, Ca, and TAOC levels, and higher BC, pH, urea, Cr, K, P, TOS, and SAA levels (p < 0.001) compared to healthy controls. Later stages of CKD was associated with the lower dft (rs= − 0.35; p = 0.022).ConclusionsChildren with CKD exhibit fewer caries and poorer oral hygiene compared to their healthy peers, and their saliva characteristics differ significantly from those of the healthy group. Disease-related changes in serum and salivary characteristics affect the oral health of children with CKD, necessitating collaboration between pediatric nephrologists and dentists.Trial registrationClinicalTrials.gov (NCT06578832).Graphical abstractA higher-resolution version of the Graphical abstract is available as Supplementary information

BackgroundMore than half of patients with congenital nephrotic syndrome (CNS) or infantile nephrotic syndrome (infantile NS) have a monogenic aetiology. This study aimed to clarify differences in the clinical course, genetic background, and genotype–phenotype correlation between CNS and infantile NS.MethodsWe enrolled patients who were diagnosed with CNS or infantile NS and referred to our hospital for genetic analysis and investigated the clinical characteristics and genetic background of patients with identified causative genes.ResultsAmong 74 patients enrolled, disease-causing genetic variants were detected in 50 patients. The median age for developing kidney failure in the genetic CNS (n = 33) and genetic infantile NS (n = 17) groups with monogenic variants was 13.2 and 19.0 months, respectively (P = 0.13). The age at developing kidney failure was significantly earlier in CNS patients with genes other than NPHS1 than in CNS patients with NPHS1 variants (1.0 vs. 31.0 months; P < 0.001). In patients with pathogenic variants other than NPHS1, there was a significant difference in the age at developing kidney failure between CNS and infantile NS patients (1.0 vs. 15.0 months; P < 0.001). Of patients with NPHS1 variants, no infants with NS had any truncating variants or developed kidney failure during follow-up.ConclusionsThe onset of CNS or infantile NS affects the kidney prognosis in patients with genetic nephrotic syndrome. Among patients with pathogenic variants in the same gene, patients with infantile NS may have a milder genotype and better prognosis than those with CNS.Graphical abstractA higher-resolution version of the Graphical abstract is available as Supplementary information