Search Results (54)

Hemolytic uremic syndrome (HUS), a thrombotic microangiopathy primarily affecting the kidneys, can also involve the central nervous system (CNS), often leading to significant morbidity and mortality. Neurologic manifestations are among the most severe extra-renal complications, particularly in children and during outbreaks of Shiga toxin-producing Escherichia coli (STEC)-associated HUS (typical (tHUS)). This review explores the clinical spectrum, pathophysiology, diagnostic workup, and age-specific outcomes of neurologic involvement in both typical (tHUS) and atypical (aHUS). Neurologic complications occur in up to 11% of pediatric and over 40% of adult STEC-HUS cases in outbreak settings. Presentations include seizures, encephalopathy, focal deficits, movement disorders, and posterior reversible encephalopathy syndrome (PRES). Magnetic resonance imaging (MRI) commonly reveals basal ganglia or parieto-occipital lesions, though subtle or delayed findings may occur. Laboratory workup typically confirms microangiopathic hemolytic anemia (MAHA), thrombocytopenia, and kidney damage, with additional markers of inflammation or metabolic dysregulation. Eculizumab is the first-line treatment for aHUS with CNS involvement, while its utility in STEC-HUS remains uncertain. Although many children recover fully, those with early CNS involvement are at greater risk of developing epilepsy, cognitive delays, or fine motor deficits. Adults may experience lingering neurocognitive symptoms despite apparent clinical recovery. Differences in presentation and imaging findings between age groups emphasize the need for tailored diagnostic and therapeutic strategies. Comprehensive neurorehabilitation and long-term follow-up are crucial for identifying residual deficits. Continued research into predictive biomarkers, neuroprotective interventions, and standardized treatment protocols is needed for improving outcomes in HUS patients with neurological complications. Full article

Background/Objective: Voiding cystourethrography is the gold-standard diagnostic tool for detecting vesicoureteral reflux and is commonly requested by pediatricians, pediatric nephrologists, emergency pediatricians, and pediatric urologists. However, VCUG is invasive, exposes patients to radiation, and carries a risk of iatrogenic urinary tract infection (UTI). This study aimed to assess the correlation between VCUG findings and factors such as age, gender, referring specialist, and clinical indication for the procedure to identify opportunities to reduce unnecessary VCUG examinations. Methods: A retrospective analysis of 197 pediatric patients who underwent VCUG over 12 months at the Institute for Child and Youth Health Care of Vojvodina was conducted. Results: The Mann–Whitney U test showed no statistically significant age difference between patients with normal (median: 2.5 years) and pathological (median: 3 years) VCUG findings (Z = −0.415, p = 0.678). The chi-square test showed that patients with a single urinary tract infection (10 patients) and other clinical indications (24 patients) had a higher chance of normal VCUG findings (0.041 and 0.011, respectively). Binary logistic regression analysis showed that patients referred by pediatric urologists were 2.06 times more likely to have pathological VCUG findings than those referred by pediatric nephrologists (p = 0.013, OR = 2.059; 95%CI: 0.166–3.634). Regarding clinical indications, the chance that VCUG findings would be normal was 2.7 times higher in patients with other indications than in patients with recurrent UTIs (p = 0.038, OR = 2.729; 95% CI: 1.055–7.059). Conclusions: Pediatric urologists tend to refer patients for VCUG more selectively than pediatric nephrologists. Avoiding VCUG in cases of a single UTI or non-specific clinical indications could significantly reduce the number of unnecessary procedures, minimizing patient exposure to radiation and potential complications. Full article

Atopic dermatitis (AD) is a chronic inflammatory skin disease characterized by eczematous lesions and recurrent pruritus. The pathogenesis of AD involves epidermal barrier impairments, immune dysfunction, and both genetic and environmental factors. This review presents the latest findings regarding the involvement of microRNA (miRNA) molecules in AD pathogenesis and their potential application as diagnostic biomarkers and therapeutic targets. The following miRNAs were analyzed in detail: miR-223, miR-10a-5p, miR-29b, miR-146a-5p, miR-451a, miR-124, miR-143, miR-151a, miR-24, miR-191, and miR-155. Their molecular mechanisms and potential clinical implications are discussed. Understanding the role of specific microRNAs in AD pathogenesis may contribute to the development of new diagnostic and therapeutic strategies for this disease. Full article

Objective: This study aimed to identify clinical and laboratory predictors of kidney involvement and disease relapse in pediatric patients with IgA vasculitis (Immunoglobulin A vasculitis, IgAV). Materials and Methods: A retrospective cohort study was conducted on 173 children diagnosed with IgAV at the Children’s Clinical Hospital of the Medical University of Warsaw between 2018 and 2022. Patients were categorized into groups based on renal involvement (IgAVN+ vs. IgAVN−) and disease recurrence. The analysis included demographic data, clinical manifestations, allergy history, presence of infection, duration of hospitalization, relapse occurrence, the interval between the first and second hospitalization, and laboratory markers. Results: Renal involvement was observed in 42% of cases, while disease recurrence occurred in 9.25% of patients. IgAVN+ patients were older, had longer hospital stays, and more frequently exhibited gastrointestinal symptoms, consistent with previous research. A history of allergic conditions was more prevalent in both the IgAVN+ and recurrence groups. An increase in IgA levels over time was associated with a higher risk of nephropathic development. Patients with recurrences had higher IgM levels and an elevated neutrophil-to-lymphocyte ratio (NLR) (p = 0.07). In the ROC (Receiver Operating Characteristic) analysis, a cutoff value of 1.67 for NLR (AUC 0.71; p = 0.0002; sensitivity 0.87; specificity 0.58) was identified as a risk factor for disease recurrence. Conclusions: Older age at disease onset, gastrointestinal involvement, and allergies are associated with renal involvement in pediatric IgAV. Immune dysregulation, reflected by elevated NLR and IgM, may contribute to disease recurrence. It is important to monitor changes in IgA levels over time, as an increase in IgA concentration is a risk factor for the development of nephropathy. Additionally, calculating the NLR is recommended, as it may indicate the probability of disease recurrence. Full article

Pathogenic variants in the Wilms’ tumor suppressor gene 1 (WT1 gene) can lead to serious disorders within the kidney and urogenital system, including chronic kidney disease. There is still much uncertainty regarding the optimal management of diseases caused by WT1 dysfunction, posing a challenge for physicians caring for these patients. The aim of our study is to present experiences related to the course and treatment of patients with confirmed WT1 pathogenic variants. Data from seven patients (five girls, two boys), who were at the age of 4.8 ± 5.1 years (0.3–14 years) at their first admission and were treated between 1997–2022, were analyzed. The analysis included each patient’s age at the day of diagnosis, anthropometric measurements, comorbidities, and laboratory and genetic test results, as well as their treatment, oncological procedures, and performed surgeries. Wilms’ tumor was the first manifestation of the disease in three patients. Arterial hypertension was diagnosed in three patients, and anemia in four. Treatment of patients with nephrotic syndrome included glucocorticosteroid therapy (GCS), calcineurin inhibitors (CNIs), and mycophenolate mofetil (MMF). Nephrectomy was performed in five children, while kidney transplantation was carried out in two patients. An interdisciplinary approach to WT1 gene pathogenic variants, including early diagnosis, individualization, regular monitoring of treatment, and oncological vigilance, is crucial for improving prognosis and ensuring proper care for patients with nephrological manifestations of WT1 gene region disorders. Furthermore, for a comprehensive understanding of the scope of this disease and the development of effective therapy methods, continued research on the clinical manifestations of WT1 pathogenic variants is essential. Full article

Background/Objectives: The prevalence of chronic kidney disease (CKD) is increasing worldwide, and this tendency is also visible in pediatric patients. The major clinical challenge is to achieve a diagnosis as early as possible, despite an overt clinical course, especially in the early stages of the disease. Unfavorable external conditions may disturb the proper treatment of chronically ill patients and delay the time of diagnosis. The recent COVID-19 pandemia might have altered the usual diagnostic pathways of different comorbidities, and CKD was probably one of them. However, there are no data on newly diagnosed CKD in children during the time of the pandemia, so our aim was to approach this problem. Methods: We analyzed medical records of 154 children with CKD who were hospitalized in the Department of Pediatric Nephrology in prepandemic (years 2015–2019) vs. pandemic and postpandemic (2020–2024) conditions, analyzing the eGFR value and stage of CKD at diagnosis, the underlying diseases leading to CKD, and sex-related differences. Results: The number of patients who were diagnosed with CKD in both time periods was comparable. Children hospitalized in the years 2020–2024 presented more often with advanced stages of CKD. The trend towards an increasing share of glomerulopathies, acute kidney injury, and unknown causes of CKD was noticeable under pandemic conditions. Conclusions: The COVID-19 pandemic could, probably owing to reduced access to primary healthcare and disrupted routine check-ups, delay the process of diagnosing CKD in children. Full article

Chronic kidney disease (CKD) is an extremely widespread pathology characterized by numerous metabolic alterations, including impairments of calcium–phosphorus and of vitamin D metabolisms, which lead to a condition known as CKD–mineral and bone disorders (CKD-MBDs). In CKD children, this pathological condition induces anomalies in physiological growth processes, alterations in bone morphology, renal osteodystrophy and rickets. CKD-MBDs are not only associated with systemic complications but also show dental and maxillofacial manifestations in children. In fact, children affected by CKD-MBDs present defects in enamel development and dental anomalies when compared to healthy children. Therefore, the aims of this narrative review are to focus on the hard dental tissues and to investigate the possible correlation between the CKD-MBDs in children and the presence of developmental defects of enamel. In addition, the possible risk and protective factors of dental caries in CKD pediatric patients are analyzed. The review describes, with a multidisciplinary nephrological–dental approach, the pathogenic mechanisms that can cause anomalies in dental structure in CKD pediatric patients. Full article

Fibronectin glomerulopathy (FG) is caused by fibronectin 1 (FN1) gene mutations. A renal biopsy was performed on a 4-year-old girl with incidentally discovered proteinuria (150 mg/dL); her family history of renal disease was negative. Markedly enlarged glomeruli (mean glomerular diameter: 196 μm; age-matched controls: 140 μm), α-SMA-positive and Ki-67-positive mesangial cell proliferation (glomerular proliferation index 1.76), the mild expansion of mesangial areas, no immune or electron-dense deposits, normal glomerular basement membrane, and diffusely effaced foot processes were observed. Genetic testing identified a de novo heterozygous mutation (Gly417Val) in the collagen-binding site of the FN II-2 domain, prompting fibronectin immunostaining. Strong mesangial positivity was noted, hence FG was diagnosed. The follow-up period of 29 months revealed nephrotic range proteinuria, intermittent microhematuria, glomerular hyperfiltration, and preserved renal function. The biopsy features of early childhood-onset FG were compared to a case of FG with a lobular pattern diagnosed in a 44-year-old patient with undulating proteinuria, microhematuria, hypertension known for a year, and a positive family history. Early childhood-onset FG was characterized by glomerular enlargement, mesangial proliferation, and no changes that suggested fibronectin deposition disease. In summary, the novel aspects of the case were that the mutation was located at the collagen-binding site of the FN1 gene, not identified earlier, and the histologic spectrum of FG was expanded by the observed mesangial proliferative pattern and striking glomerulomegaly. Now, FG should also be considered among the monogenic causes of proteinuric kidney diseases in pediatric nephrology practice. Full article

Urinary tract dilations (UTDs) are the most frequent prenatal renal anomaly. The spectrum of etiologies causing UTD ranges from mild spontaneously resolving obstruction to severe upper and lower urinary tract obstruction or reflux. The early recognition and management of these anomalies allows for improved renal endowment prenatally and ultimately better outcome for the child. The role of the general obstetrician and pediatrician is to recognize potential prenatal and postnatal cases addressed to their practice and to refer patients to specialized pediatric nephrology and urology centers with a sense of the urgency of such a referral. The aim of this paper is to offer clinical recommendations to clinicians regarding the management of neonates and children born with prenatally detected UTD, based on a consensus between Swiss pediatric nephrology centers. The aim is to give suggestions and recommendations based on the currently available literature regarding classifications and definitions of prenatal and postnatal UTD, etiologies, prenatal and postnatal renal function evaluation, investigations, antibiotic prophylaxis, and the need for referral to a pediatric nephrologist and/or urologist. The overarching goal of a systematic approach to UTD is to ultimately optimize kidney health during childhood and improve long-term renal function prognosis. Full article

Background: Pediatric chronic kidney disease (CKD) requires reliable biomarkers for early detection and monitoring. Neutrophil gelatinase-associated lipocalin (NGAL) has emerged as a potential marker due to its responsiveness to renal impairment and involvement in mineral metabolism. Objectives: To evaluate serum NGAL levels in pediatric CKD patients and explore correlations with estimated glomerular filtration rate (eGFR), ferritin, calcium-phosphorus (Ca*P) product, and total serum protein. Methods: A cross-sectional study included 54 pediatric CKD patients and 29 healthy controls. Laboratory assessments encompassed serum NGAL, creatinine, ferritin, calcium, phosphorus, and total serum protein. eGFR was calculated using the Schwartz formula. Pearson correlation and linear regression analyses determined associations between NGAL and other parameters. Results: NGAL levels were significantly higher in CKD patients compared to controls (median 453 ng/mL vs. 78 ng/mL, p < 0.001). A strong negative correlation existed between NGAL and eGFR (r = –0.81, p < 0.001). NGAL showed moderate positive correlations with ferritin (r = 0.56, p = 0.009) and CaP product (r = 0.57, p = 0.006) and a moderate negative correlation with total serum protein (r = –0.36, p = 0.225). Regression analysis confirmed NGAL as a significant predictor of eGFR, ferritin, and CaP product. Conclusions: Elevated serum NGAL levels are associated with decreased renal function and alterations in mineral metabolism in pediatric CKD patients. NGAL may serve as a valuable biomarker for assessing disease progression and guiding clinical management in this population. Full article

Background: Percutaneous ultrasound-guided renal biopsy (PRB) is a key element for diagnosis and management of several renal pathologies. We aimed to lay out the experience of our pediatric nephrology unit performing PRBs. The rationale and findings of these biopsies, safety issues and considerations of the extracted data are going to be analyzed. Methods: A retrospective study was conducted from 2008 to 2023 based on the review of the medical records of pediatric patients who underwent PRBs. In total, 216 kidney biopsies in 206 patients were performed: 115 (53.2%) during the 2008–2015 period and 101 (46.8%) during the 2016–2023 period. Results: The most frequent clinical indication for PRBs was nephritic syndrome followed by nephrotic syndrome, observed in 84 (40.8%) and 72 (34.9%) patients, respectively. The predominant diagnosis was minimal change disease (MCD) (23.3%), followed by focal segmental glomerulosclerosis (FSGS) (15%) equal to lupus nephritis (LN) (15%), and immunoglobulin A nepropathy (10.2%). Minor complications, such as subcapsular hematomas were observed in approximately 15% of patients while no therapeutic intervention was needed. Conclusions: This report is the first review of pathohistological data covering a pediatric population over a 15-year period in Greece and one of the largest in southeastern Europe, especially in the Balkan region. The main indication for a PRB was nephritic syndrome; however, MCD was the main histological diagnosis. This study emphasis the fact that PRBs constitute a safe and reliable method of diagnostic approach to kidney diseases in childhood and offers important information on therapeutic approaches as well as the prognosis of these patients. Full article

The precise molecular processes underlying the complement’s activation, which follows exposure to physical stress still remain to be fully elucidated. However, some possible mechanisms could play a role in initiating changes in the complement’s activity, which are observed post-exposure to physical stress stimuli. These are mainly based on metabolic shifts that occur in the microenvironment of muscle tissue while performing its function with increased intensity, as well as the adipose tissue’s role in sterile inflammation and adipokine secretion. This review aims to discuss the current opinions on the possible link between the complement activation and diet, age, sex, and health disorders with a particular emphasis on endocrinopathies and, furthermore, the type of physical activity and overall physical fitness. It has been indicated that regular physical activity incorporated into therapeutic strategies potentially improves the management of particular diseases, such as, e.g., autoimmune conditions. Moreover, it represents a favorable influence on immunoaging processes. A better understanding of the complement system’s interaction with physical activity will support established clinical therapies targeting complement components. Full article

Background/Objectives: This study aims to evaluate the efficacy and outcomes of renal replacement therapy (RRT) in pediatric patients with metabolic diseases, specifically focusing on the impact of hemodialysis (HD) and peritoneal dialysis (PD) on clinical parameters, toxin reduction, and long-term survival. Methods: This retrospective study included 10 pediatric patients (eight females and two males) treated at a pediatric nephrology department between 2020 and 2023. Patients diagnosed with metabolic disorders, including maple syrup urine disease (MSUD), methylmalonic acidemia (MMA), and glycogen storage disease (GSD), underwent RRT. Clinical data, demographic information, and biochemical parameters were collected and analyzed. Results: Among the patients, 50% were diagnosed with MSUD, 30% with MMA, and 20% with GSD. RRT, including HD and PD, was administered to manage acute metabolic crises. HD was particularly effective in rapidly reducing toxic metabolite levels. Patients treated with HD showed significant reductions in leucine and ammonium levels, with median reductions of 94.5% and 86%, respectively. Overall, 60% of the patients demonstrated long-term survival, highlighting the critical role of RRT in managing metabolic crises. In conclusion, RRT, including HD and PD, is crucial in managing pediatric metabolic disorders by effectively reducing toxic metabolite levels and improving clinical outcomes. Conclusions: The results of this study are consistent with previous research, highlighting the critical role of RRT in the acute management of metabolic crises and supporting its adoption as a standard treatment method. Full article

Background and Objectives: This research explores the correlation between estimated glomerular filtration rates (eGFR) obtained using the bedside Schwartz equation, and renal scintigraphy in children with congenital kidney and urinary tract abnormalities (CAKUT). The objective is to enhance understanding and management of renal health in this demographic by analyzing kidney size-function relationships. Methods: A retrospective observational analysis was performed on 94 pediatric CAKUT patients at the “Louis Turcanu” Emergency Hospital for Children, Timisoara. Kidney function data, extracted from medical records, were evaluated using the Schwartz equation, renal scintigraphy, and the gold standard iohexol clearance. Ethical approval was secured for the study, which employed descriptive and inferential statistical methods, including t-tests and correlation coefficients, to compare eGFR values. Results: Significant variances were found in eGFRs across different body surface area (BSA) percentiles. For instance, the eGFR for the right kidney in the 25th–50th BSA percentile (102.02 ± 41.52 mL/min/BSA) was notably higher than that of the left (35.60 ± 26.05 mL/min/BSA; p = 0.01). The overall sample reflected a higher eGFR in the right kidney (76.03 ± 40.91 mL/min/BSA) compared to the left (57.46 ± 35.91 mL/min/BSA; p = 0.02). Additionally, a strong positive Pearson correlation (r = 0.80, p = 0.02) was found between scintigraphy and ultrasound measures in the 50th–75th percentiles for left renal percentiles, demonstrating consistent patterns across different evaluations of kidney function. Conclusions: This comparison indicates a complex relationship between eGFR values and kidney size, suggesting potential inaccuracies in standard bedside eGFR measurements for pediatric CAKUT patients. The findings underscore the necessity for accurate diagnostic tools specifically designed for pediatric applications and advocate for the integration of multiple diagnostic techniques to improve clinical management. Full article