Search Results (170)

Background and Objectives: Congenital urological malformations are among the most frequent causes of pediatric chronic kidney disease. Endoscopic balloon dilation and ureteral stenting can be considered less invasive options compared to conventional surgery for primary obstructive megaureter (POM). Nevertheless, the long-term results and side effects of these methods have not yet been well documented. The purpose of this study is to analyze the effectiveness and safety of the endoscopic treatment of POM in children, with the aim of assisting clinical decision making and improving treatment plans. Materials and Methods: A retrospective longitudinal study was performed at the Pediatric Surgery Department of the “M.S. Curie” Emergency Clinical Hospital for Children in Bucharest between October 2020 and September 2024. Eleven endoscopic interventions were performed in five pediatric patients (four boys and one girl) who had six affected ureters, with a median age of 22 months. The inclusion criteria were retrovesical ureter dilation > 7 mm and no prior surgeries of the ureterovesical junction. Cases with secondary megaureters were excluded from the study. The procedures comprised HPEBD and temporary double-J (DJ) stent placement, with systematic postoperative monitoring. Success was defined as improvements in symptoms, a decrease in hydronephrosis, and the preservation of renal function. Results: A final success rate of 83.3% was achieved with endoscopic treatment. Complications were noted in 73% of cases: Clavien–Dindo Grade I (30%); Clavien–Dindo Grade II (20%); Clavien–Dindo Grade IIIb (50%). The documented complications consisted of balloon rupture, stent migration, restenosis, and febrile urinary tract infections (UTIs). Nonetheless, no major complications were observed. The postoperative monitoring showed that renal function was stable and that hydronephrosis had improved gradually. Conclusions: Endoscopic procedures offer a promising, minimally invasive treatment for POM in children with a good success rate. However, the high complication risk necessitates careful patient selection, post-surgery monitoring, and clear guidelines. Full article

Background: Antenatal hydronephrosis (ANH) is the most common congenital renal and urinary tract anomaly, and parenchymal damage and renal fibrosis due to pathological hydronephrosis are the main causes of end-stage renal disease in children and chronic kidney disease in adults. At present, there is no validated biomarker for ANH, and diagnostic criteria other than prenatal ultrasonography (US) assessment are lacking. Therefore, we assessed to determine if biomarkers extracted from amniotic fluid small extracellular vesicles (sEVs) might be used as ANH diagnosis. Methods: With congenital ureteropelvic junction obstruction (UPJO) as the ultimate diagnosis, 10 pregnant women with Grade III-IV ANH and 10 normal pregnant women were recruited. The sEVs were extracted from amniotic fluid supernatant of all samples. Transcriptomic sequencing of sEVs in the discovery cohort identified the differential expression profiles for ANH. The known differentially expressed lncRNAs (DE-lncRNAs) were assessed by qRT–PCR in the validation cohort. Results: We explored the global RNA expression in sEVs from amniotic fluid. The differential expression profiles of both mRNAs and lncRNAs were related to fetal kidney development. Six known DE-lncRNAs were identified for ANH, and three of those with high expression were verified in more ANH samples. In particular, the upregulated LINC02863 and its target genes were associated with renal development and morphogenesis. The four predicted novel lncRNAs in high expression were also related to mesenchymal morphogenesis and the STAT3 signaling pathway and may play roles in ANH. Conclusions: We identified differentially expressed RNAs of all species in the sEVs from amniotic fluid, and the validated known DE-lncRNAs might serve as promising diagnostic biomarkers for ANH. Full article

Cell-mediated immunity and chronic inflammation are hallmarks of chronic kidney disease (CKD). Growth differentiation factor 15 (GDF15) is a marker of inflammation and an integrative signal in stress conditions. Epidermal growth factor (EGF) is a tubule-specific protein that modulates the regeneration of injured renal tubules. Neopterin is a product of activated monocytes and macrophages and serves as a marker of cell-mediated immunity. Our aim was to assess the role of the above-mentioned parameters in the progression of CKD in children using artificial intelligence tools. The study group consisted of 151 children with CKD stages 1–5. EGF, GDF15, and neopterin serum concentrations were assessed by ELISA. The patients’ anthropometric data, biochemical parameters, EGF, GDF15, and neopterin serum values were implemented into the artificial neural network (ANN). The most precise model contained EGF, GDF15, and neopterin as input parameters and classified patients into either CKD 1–3 or CKD 4–5 groups with an excellent accuracy of 96.77%. The presented AI model, with serum concentrations of EGF, GDF15, and neopterin as input parameters, may serve as a useful predictor of CKD progression. It suggests the essential role of inflammatory processes in the renal function decline in the course of CKD in children. 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

Background/Objectives: Chronic kidney disease (CKD) influences different organs including the temporomandibular joint (TMJ). This study aims to identify structural and functional TMJ changes in children with CKD using ultrasound as the least invasive and most accessible method. Methods: TMJ changes were examined using ultrasound screening in 40 children. The first group (control, n = 10) included children with normal occlusion without TMJ complaints. The second group (n = 10) included children with CKD stage 1 and 2. The third group (n = 10) included patients on hemodialysis after renal transplantation. The forth group (n = 10) included patients at least 6 months after renal transplantation. Results: The size of the anterior section of the right TMJ gap in the third group was the largest among all the groups studied (1.085 mm) and statistically significantly different from the first group (0.570 mm; p = 0.001) and the second one (0.665 mm, p = 0.001). The width of the middle section was also greatest in the third group and statistically significantly different when compared to the first and second groups (0.390 mm; p = 0.023 and 0.340 mm; p < 0.001, respectively). A posterior articular gap width differences between the individual patient groups under study were not statistically significant in a posteriori comparison with Bonferroni correction. Statistical significance of differences between all groups when comparing the gap width was found in all sections of the left TMJ. The frequency of anterior disc displacement between groups ranged from 50 to 100% in all groups studied and was not statistically different when comparing right and left TMJs between groups (p = 0.084 and p = 0.662, respectively). Conclusions: CKD children have different TMJ changes, so TMJ ultrasound could screen joint pathology at early stages, and dental specialists can start timely rehabilitation. Full article

Para-cresol (p-cresol), and its primary human metabolite p-cresol sulfate (pCS), are among the most studied gut-derived metabolites relevant to autism spectrum disorder (ASD). P-cresol is produced by bacterial modification of phenylalanine or tyrosine and is one of many potentially deleterious metabolites produced by the gut microbiota. Seventeen studies have observed p-cresol and/or p-cresol sulfate as being higher in the urine of children with autism spectrum disorder (ASD) vs. controls. P-cresol has harmful effects on the body, including within the gut, brain, kidneys, liver, immune system, and mitochondria. Some of these effects may contribute to autism and comorbid symptoms. In the gut, p-cresol acts as an antibiotic, altering the gut microbiome to favor the bacteria that produce it. In the mitochondria, p-cresol disrupts ATP production and increases oxidative stress, which is also common in autism. In the brain, p-cresol impairs neuronal development. P-cresol inactivates dopamine beta-hydroxylase, which converts dopamine to noradrenaline. P-cresol sulfate impairs kidney function and is linked to chronic kidney disease (CKD), which is more common in ASD adults. P-cresol also interferes with immune function. Three animal studies have demonstrated that p-cresol causes autism-related symptoms in mice, and that mice can be recovered by the administration of fecal microbiota transplant from healthy mice. Similarly, it was found that microbiota transplant therapy treatment in children with ASD significantly reduced p-cresol sulfate levels to normal and led to significant improvements in gastrointestinal (GI) and ASD symptoms. In summary, p-cresol and pCS likely contribute to ASD core symptoms in a substantial subset of children with ASD. Full article

Background/Objectives: In chronic kidney disease (CKD), poor nutrition is associated with poorer clinical outcomes. There are limited data on milder stages of childhood CKD. Methods: This study characterised the nutritional state of a cohort of children with CKD. Results: Within the cohort (mean age 10.5 years, mean eGFR = 57 mL/min/1.73 m²), obesity defined by body mass index rates was comparable to that in the general population, but central obesity (waist-to-height ratio > 0.5) was evident in 44% of children. Although average nutrient intakes for the cohort were acceptable, there was marked variability in the risk of poor nutrient intake (<LRNI): selenium (35%), magnesium (35%), iodine (30%), and zinc (30%). No child met the recommended dietary fibre intake. The prevalence of frank deficiency of vitamins and minerals in blood concentrations was low. Blood concentrations of vitamins A and E were near-universally elevated. In those who had a decline in kidney function at the 12-month follow-up, dietary intake of fibre correlated with the degree of decline. Conclusions: Much work is needed to optimise the nutritional status of children with CKD as an important modifiable risk factor for disease progression and other important outcomes. Full article

Background/Objectives: Children on dialysis have a 10-fold increase in cardiovascular disease (CVD)-related mortality when compared to the general population. The development of CVD in dialysis patients is attributed to Chronic Kidney Disease–Mineral Bone Disorder (CKD-MBD) and dyslipidemia. While the prevalence of dyslipidemia in adult dialysis patients has been described, there are limited data on prevalence, severity, and risk factors for pediatric dyslipidemia. Methods: Data from 1730 pediatric patients ≤ 21 years receiving maintenance hemodialysis or peritoneal dialysis with at least one lipid panel measurement were obtained from USRDS between 2001 and 2016. Disease etiology was classified as being glomerular (n = 1029) or non-glomerular (n = 701). Comparisons were made across etiologies using both linear and logistic regression models to determine the relationship between disease etiology and lipid levels. Results: The cohort had a mean age of 15.2 years and were 54.5% female. Adjusting for age, sex, race/ethnicity, modality, time with End Stage Kidney Disease (ESKD), and body mass index (BMI) and using non-glomerular etiology as the reference, glomerular disease [mean (95% CI)] was associated with +19% (+14.7%, +23.8%) higher total cholesterol level (183 mg/dL vs. 162 mg/dL), +21% (+14.8%, +26.6%) higher low density lipoprotein cholesterol level (108 mg/dL vs. 87 mg/dL), and +22.3% (+15.5%, +29.5%) higher triglyceride level (169 mg/dL vs. 147 mg/dL). Glomerular disease [OR (95% CI)] was associated with 3.0-fold [2.4, 3.9] higher odds of having an abnormal total cholesterol level, 3.8-fold [2.8, 5.0] higher odds of having an abnormal LDL-C level, and 1.9-fold [1.5, 2.4] higher odds of having an abnormal triglyceride level when compared to non-glomerular disease. Conclusions: Pediatric dialysis patients have a high prevalence of dyslipidemia, particularly from elevated triglyceride levels. Specifically, patients with glomerular disease have an even higher risk of dyslipidemia from elevated non-HDL cholesterol and triglyceride levels than patients with non-glomerular disease. The long-term impact of this unfavorable lipid profile requires further investigation. 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

Before 1985, growth hormone (GH) was extracted from human pituitaries, and its therapeutic use was limited to children with severe GH deficiency (GHD). The availability of an unlimited amount of recombinant GH (rhGH) allowed for investigating the efficacy of its therapeutic use in a number of conditions other than GHD. Nowadays, patients with Turner syndrome, SHOX deficiency, Noonan syndrome, Prader–Willi syndrome, idiopathic short stature, chronic kidney disease, and children born small for gestational age can be treated with rhGH in order to improve adult height. In patients with Prader–Willi syndrome, rhGH therapy also improves body composition and cognitive function. Large post-marketing multinational studies in a large number of pediatric patients demonstrated a good safety profile for rhGH. Recently, long-acting formulations of rhGH have been approved and licensed for GHD, and clinical trials are ongoing for other conditions. In this paper, we review the rhGH therapy in children with conditions other than GHD. Full article

Background: Acute kidney injury (AKI) is common in neonates with increased mortality and longer hospitalization. Few studies have evaluated AKI outcomes in relation to serum creatinine dynamics in neonates from the first day of life. Methods: We performed an observational, retrospective, single-center study on newborns admitted to the “Louis Turcanu” Emergency County Hospital for Children between 2014 and 2022. The cohort comprised 1106 neonates with their serum creatinine values recorded on the first day of life and at least another measurement taken at between days 2 and 7. We evaluated the outcomes of serum creatinine trends in relation to mortality, hospitalization and progression to chronic kidney disease. Results: Overall, 23.4% (259) of babies had an ascending trend of serum creatinine and on day 1 had higher urea levels, lower hemoglobin and thrombocytes, lower serum proteins and higher degrees of inflammation compared to the ones with descending trends. An ascending serum creatinine level trend was associated with increased neonatal AKI (nAKI) risk in the first seven days of 12.93 times and an increased overall nAKI risk of 4.07 times. Ascending creatinine trends independently increased mortality in the entire cohort by 1.92 times and by 4.65 times in the subgroup of patients without AKI. In the crude analysis, an ascending creatinine trend increased the risk of chronic kidney disease by 8.74 times and, in an adjusted model, only nAKI was an independent risk factor (8.57 times). Conclusions: Neonates are a high-risk population with prolonged hospitalization regardless of serum creatinine trend. Our study emphasizes the importance of monitoring serum creatinine trends in at-risk newborns, especially those with ascending serum creatinine trends in the first week of life. Only the ascending serum creatinine trend was independently associated with an increased risk of nAKI development and mortality. nAKI is a risk factor for progression to chronic kidney disease. Full article

Non-alcoholic fatty liver disease (NAFLD) is the main cause of chronic liver disease globally. NAFLD is a complex pathology, considered to be the hepatic expression of metabolic syndrome (MetS). It is supposed to become the main indication for liver transplantation in the coming years and is estimated to affect 57.5–74.0% of obese people, 22.5% of children and 52.8% of obese children, with 50% of individuals with type 2 diabetes being diagnosed with NAFLD. Recent research has proved that an increase in adipose tissue insulin resistance index is an important marker of liver injury in patients with NAFLD. Despite being the main underlying cause of incidental liver damage and a growing worldwide health problem, NAFLD is mostly under-appreciated. Currently, NAFLD is considered a multifactorial disease, with various factors contributing to its pathogenesis, associated with insulin resistance and diabetes mellitus, but also with cardiovascular, kidney and endocrine disorders (polycystic ovary syndrome, hypothyroidism, growth hormone deficiency). Hepatitis B and hepatitis C, sleep apnea, inflammatory bowel diseases, cystic fibrosis, viral infections, autoimmune liver diseases and malnutrition are some other conditions in which NAFLD can be found. The aim of this review is to emphasize that, from the clinician’s perspective, NAFLD is an actual and valuable key diagnosis factor for multiple conditions; thus, efforts need to be made in order to increase recognition of the disease and its consequences. Although there is no global consensus, physicians should consider screening people who are at risk of NAFLD. A large dissemination of current concepts on NAFLD and an extensive collaboration between physicians, such as gastroenterologists, internists, cardiologists, diabetologists, nutritionists and endocrinologists, is equally needed to ensure we have the knowledge and resources to address this public health challenge. Full article

Indoxyl sulfate—a bacterially derived metabolite—has been identified as a toxin that is elevated in children with autism spectrum disorder (ASD). As a neurotoxin, uremic toxin, nephrotoxin, cardiotoxin, osteotoxin, and myotoxin, indoxyl sulfate has been associated with several other conditions, including chronic kidney disease, acute kidney injury, Parkinson’s disease, cognitive disorders, and mood disorders such as anxiety and depression. Indoxyl sulfate is derived from bacterial modification of host tryptophan, and elevated levels of indoxyl sulfate are associated with decreased levels of important neurotransmitters including serotonin, dopamine, and norepinephrine. This article will review what is currently known about indoxyl sulfate in relation to ASD and its comorbidities. A systematic review identified six studies of levels of indoxyl sulfate in children with ASD. All six studies found that indoxyl sulfate was significantly elevated in the urine of children with ASD compared to typically developing children. Through this review, indoxyl sulfate was identified as a toxic microbially derived metabolite that is significantly increased in a subset of children with ASD and may contribute to both core and co-morbid ASD symptoms. Full article

Background: Sickle cell disease (SCD) is a genetic hematological disorder associated with significant mortality and a range of complex complications that manifest differently across various age groups. Methods: This study aimed to evaluate the demographic, clinical, and laboratory characteristics of SCD patients in Taif City, Saudi Arabia, with a focus on variations among children, adolescents, adults, and middle-aged individuals. A multicenter retrospective cohort study included 129 patients with confirmed diagnosis of SCD between January 2018 to October 2023 and divided into 4 cohorts. The analysis compared hospital stay durations, admission rates, SCD complications, and medication usage. Results: Among the participants, 35 were children (27%), 18 adolescents (14%), 63 adults (49%), and 13 middle-aged individuals (10%). Clinical complications as splenic disease in children (34.3%) were more frequent compared to adolescents (5.6%) and adults (4.8%). Additionally, chronic kidney disease was more prevalent in middle-aged patients (15.4%). Pain was reported in 65.1% of patients, with vascular occlusive crises occurring in 41.1%. Treatment adherence varied, with children showing higher penicillin use (74.3%), while opioid usage was greater in middle-aged patients (76.9%). Conclusions: The findings underscore the necessity for age-specific management strategies in SCD. Further research with larger populations is suggested to enhance the understanding of disease progression and treatment efficacy across different age groups. Full article