Pediatric Nephrology最新文献

{"title":"Enhancing kidney assessment in pediatric neurogenic bladder: addressing gaps in body composition and GFR monitoring.","authors":"Hamza Bin Ahmed","doi":"10.1007/s00467-024-06593-1","DOIUrl":"10.1007/s00467-024-06593-1","url":null,"abstract":"","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"1817"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142581398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"How dialysis frequency and duration impact uremic toxin and fluid removal: a pediatric perspective.","authors":"Pauline Van Wesemael, Sunny Eloot, Ann Raes, Rukshana Shroff, Evelien Snauwaert","doi":"10.1007/s00467-024-06598-w","DOIUrl":"10.1007/s00467-024-06598-w","url":null,"abstract":"<p><p>Three-weekly 4-h hemodialysis/hemodiafiltration (HD/HDF) per week has become the \"standard HD/HDF\" regimen in children across the globe, although increasingly criticized, since crucial determinants such as residual kidney function and patient preferences are not considered. As a consequence, several children fail to achieve adequate dialysis while on a \"standard HD/HDF.\" In these circumstances, an extended dialysis prescription such as short daily (2-3 h/session, 5-7 days a week) or nocturnal HD/HDF (6-9 h/session, 3-5 days a week), either at home or in a dialysis center, may be considered. The purpose of this educational review is to summarize the impact of dialysis duration and frequency on uremic toxin and fluid removal. Moreover, we aim to summarize the existing literature on HD/HDF strategies with extended dialysis duration and/or increased frequency (> 12 h dialysis time per week) in pediatrics. Dialysis duration and frequency plays a crucial role in uremic toxin removal, in particular for uremic toxins with retarded transport in patients, such as phosphate, β₂-microglobulin (β₂m), and protein-bound uremic toxins. Also, increasing dialysis duration and/or frequency decreases the gap between plasma refilling and ultrafiltration volume), thereby decreasing the need for a high ultrafiltration rate. Observational studies in children demonstrate a beneficial effect of extended dialysis regimens (i.e., more frequent or longer duration) on blood pressure control, left ventricular hypertrophy, growth, and quality of life. PTH levels tend to decrease in the majority of studies, while hypocalcemia or suppressed PTH levels were also reported. Dietary restrictions were decreased or stopped, along with tapering of phosphate binders and potassium chelators. Extended HD/HDF regimens are beneficial in a particular group of children. Pediatric-specific international guidelines are needed to support pediatric nephrologists in determining for which children extended HD regimens are beneficial, along with increasing efforts to decrease the financial, organizational, and psychosocial barriers that are present in extended HD/HDF.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"1565-1578"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142786392","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Resolution of chyluria due to congenital malformation with a minimally invasive procedure.","authors":"Paola Zayas-Borges, Reema Panjwani, Xiaoyan Wu, Jay Shah, Larry A Greenbaum","doi":"10.1007/s00467-024-06489-0","DOIUrl":"10.1007/s00467-024-06489-0","url":null,"abstract":"<p><p>Milky white urine is most commonly due to chyluria secondary to filariasis, though other causes of milky white urine and other etiologies of chyluria must be considered. Evaluation of a 3-year-old girl with milky white urine demonstrated chyluria, but testing for filariasis was negative despite a history of travel to an endemic region. Magnetic resonance lymphangiography demonstrated a congenital lymphatic malformation, which was repaired following this minimally invasive imaging technique.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"1591-1593"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142801873","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of the complement system in Shiga toxin-associated hemolytic uremic syndrome.","authors":"Victoria Bocanegra, Mariana Luna, Valeria V Costantino, Andrea F Gil Lorenzo, Raul Marino, Roberto Miatello, Valeria Cacciamani, M Eugenia Benardon, Clara Pott Godoy, Sheila Pinto, Santiago Rodríguez de Córdoba, Patricia G Vallés","doi":"10.1007/s00467-024-06629-6","DOIUrl":"10.1007/s00467-024-06629-6","url":null,"abstract":"<p><strong>Background: </strong>This research explores complement activation products involvement and risk and protective polymorphisms in the complement alternative pathway genes in Shiga toxin-associated hemolytic uremic syndrome (STEC-HUS) pathogenesis.</p><p><strong>Methods: </strong>We analyzed the levels of complement activation products, C3a, C5a and soluble C5b-9 (sC5b-9) and plasma concentrations of Factor H (FH) and FH-related protein 1 (FHR-1) in 44 patients with STEC-HUS, 12 children with STEC-positive diarrhea (STEC-D), and 72 healthy controls (HC). STEC-HUS cases were classified as \"severe\" or \"non-severe\". Genetic analysis was performed for complement genes (CFH, CFB, MCP, C3).</p><p><strong>Results: </strong>No significant differences in the frequency of atypical HUS (aHUS) complement risk polymorphisms were found between groups. In severe STEC-HUS, the risk haplotypes CFH-H3 and MCPggaac were identified in three patients each, all in homozygosity. Patients with STEC-HUS had significantly elevated C3a, C5a and sC5b-9 levels at admission compared to HC and STEC-D, with higher sC5b-9 levels in severe cases. Increased ratio between FHR-1 and FH (FHR-1/FH) was demonstrated in STEC-HUS vs. HC, with significantly higher FHR-1/FH ratio in severe STEC-HUS patients. Principal component analysis revealed significant changes in sC5b-9 direction and magnitude in STEC-HUS. Pearson correlation showed a significant relationship between FH and sC5b-9. Logistic regression indicated sC5b-9, leukocytosis, creatinine, and anuria duration as independent factors for severe STEC- HUS.</p><p><strong>Conclusions: </strong>This study highlights the significant activation of the alternative complement pathway in STEC-HUS, particularly sC5b-9 in severe cases, and suggests a limited contribution of complement risk polymorphisms in STEC-HUS. FHR-1 may represent a promising target for future investigations related to STEC-HUS pathogenesis.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"1711-1722"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142952601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mechanisms of podocyte injury in genetic kidney disease.","authors":"Nina Mann, Hua Sun, Amar J Majmundar","doi":"10.1007/s00467-024-06551-x","DOIUrl":"10.1007/s00467-024-06551-x","url":null,"abstract":"<p><p>Glomerular diseases are a leading cause of chronic kidney disease worldwide. Both acquired and hereditary glomerulopathies frequently share a common final disease mechanism: disruption of the glomerular filtration barrier, podocyte injury, and ultimately podocyte death and detachment. Over 70 monogenic causes of proteinuric kidney disease have been identified, and most of these genes are highly expressed in podocytes, regulating key processes such as maintenance of the slit diaphragm, regulation of actin cytoskeleton remodeling, and modulation of downstream transcriptional pathways. Collectively, these are increasingly being referred to as hereditary \"podocytopathies,\" in which podocyte injury is the central feature driving proteinuria and kidney dysfunction. In this review, we provide an overview of the monogenic podocytopathies and discuss the molecular mechanisms by which single-gene defects lead to podocyte injury and ultimately glomerulosclerosis. We review how advances in genomic technology and a better understanding of the cell biological basis of disease have led to the development of more targeted and personalized therapeutic strategies, including an overview of small molecule and gene therapy approaches.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"1523-1538"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11945604/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142562954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Re: Vanadium exposure and kidney markers in a pediatric population.","authors":"Fathimathul Henna, Faaizah Ahmed, Reda Iqbal","doi":"10.1007/s00467-024-06647-4","DOIUrl":"10.1007/s00467-024-06647-4","url":null,"abstract":"","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"1823"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142882647","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Response letter to UTI in infants: less is more, together is better.","authors":"Magnus Lindén, Therese Rosenblad, Sverker Hansson, Per Brandström","doi":"10.1007/s00467-024-06610-3","DOIUrl":"10.1007/s00467-024-06610-3","url":null,"abstract":"","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"1821-1822"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142716386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic and clinical spectrum of steroid-resistant nephrotic syndrome with nuclear pore gene mutation.","authors":"Huihui Yang, Gaohong Zhu, Wenjun Shao, Panli Liao, Yuan Yan, Chun Wang, Xiaowen Wang","doi":"10.1007/s00467-024-06618-9","DOIUrl":"10.1007/s00467-024-06618-9","url":null,"abstract":"<p><strong>Background: </strong>Steroid-resistant nephrotic syndrome (SRNS) is insensitive to steroid therapy and overwhelmingly progresses to kidney failure (KF), the known pathogenic genes of which include key subunits of the nuclear pore complex (NPC), a less-recognized contributor to glomerular podocyte injury.</p><p><strong>Methods: </strong>After analyzing their clinical characterizations and obtaining parental consent, whole-exome sequencing (WES) was performed on patients with SRNS. Several nucleoporin (NUP) biallelic pathogenic variants were identified and further analyzed by cDNA-PCR sequencing from white cells of peripheral blood, minigene assay, immunohistochemical (IHC) staining, and electron microscopy (EM) ultrastructure observation of kidney biopsy, as well as multiple in silico prediction tools, including 3D protein modeling.</p><p><strong>Results: </strong>Here, in six families with SRNS, we identified pathogenic mutations in NUP85/93/107/160 genes. Specifically, the patient with NUP93 mutation developed KF six months after diagnosis at 1 year 2 months. Two missense mutations, c.1655A > G and c.1604A > C, disrupted the protein stability of NUP93 by IHC staining of kidney biopsy. Ultrastructurally, the above mutations led to severe vacuolization and deformed nucleus in podocytes, torn and dissolved glomerular basement membrane, and diffuse foot process effacement. The patient with NUP85 mutation reached chronic kidney disease (CKD) stage 3 after 4 years follow-up, with exons 2-5 in-frame loss and a missense variant at c.511C > T, not affecting NUP85 expression but possibly weakened interaction with Seh1. Additionally, an extended endoplasmic reticulum (ER) tubule was readily observed under EM. Meanwhile, dilated ER was also found in two children with NUP160 mutations (c.3330 delA and c.2407 G > A; c.2241 + 1 (IVS17) G > T and c.3656 T > G), one of which has undergone kidney transplantation. Compound heterozygous variants in NUP107, c.1695 G > C and c.1360 C > T, were found in a 14-year-old girl initially diagnosed with CKD stage 5, with the former variant causing exon 19 skipping and early translation termination. c.1311 + 1(IVS15) G > A and c.1790 C > T were identified in the second affected girl, with the former causing exon 15 skipping and an in-frame loss of aa417-438, which disrupted the stability of NUP107 and interaction with NUP133.</p><p><strong>Conclusions: </strong>Our findings expand the spectrum of phenotypes and genotypes of NUPs-associated SRNS and suggest its possible pathogenic mechanism in nuclear and ER homeostasis.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"1663-1676"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143009355","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ambulatory blood pressure profiles of children with asthma compared to healthy controls.","authors":"Adem Yasin Köksoy, Yurda Şimşek, Serdar Epçaçan, Umut Selda Bayrakci","doi":"10.1007/s00467-024-06615-y","DOIUrl":"10.1007/s00467-024-06615-y","url":null,"abstract":"<p><strong>Background: </strong>Studies suggest that asthma and hypertension may be comorbid conditions. Most of these studies are epidemiological research. However, data on the relationship between asthma and hypertension in childhood are limited. We aimed to evaluate ambulatory blood pressure profiles of children with asthma.</p><p><strong>Methods: </strong>Children aged 5-18 with asthma were evaluated using ABPM. The control group included healthy age- and sex-matched volunteers. A total of 26 patients with asthma and 20 controls were enrolled.</p><p><strong>Results: </strong>Children with asthma had higher mean 24-h systolic blood pressure (SBP) SDS (standard deviation score) compared to controls (mean difference: 0.84, 0.19 ± 1.14 vs. - 0.65 ± 1.09, p = 0.015). Daytime SBP SDS was higher in those with asthma (mean difference: 0.83, 0.009 ± 1.22 vs. - 0.82 ± 1.09, p = 0.021), as was nighttime SBP SDS (mean difference: 0.74, 0.64 ± 1.09 vs. - 0.10 ± 0.79, p = 0.013). Median nighttime SBP load was higher in those with asthma (p = 0.006). Nondipping status was found in 23.1% of patients with asthma (none in controls, p = 0.021). One patient (3.8%) had ambulatory hypertension and six (23.1%) had masked hypertension (none in controls, p = 0.042). Extended use of inhaled corticosteroids was associated with a 2% increase in the odds of developing hypertension (OR 1.02, p = 0.025).</p><p><strong>Conclusions: </strong>Children with asthma may be at greater risk for developing hypertension compared to healthy counterparts. Ambulatory blood pressure tends to be higher in children with asthma than healthy peers. Inhaled steroids potentially contribute to elevated BP levels in children with asthma.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"1723-1729"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142927555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimal functioning of hypothalamic-pituitary-adrenal axis after cessation of prednisolone therapy: a cross-sectional study in children with nephrotic syndrome.","authors":"Jaiganesh M, Kirtisudha Mishra, Shikha Sharma, Manish Kumar, Ankita Patel","doi":"10.1007/s00467-024-06645-6","DOIUrl":"10.1007/s00467-024-06645-6","url":null,"abstract":"<p><strong>Background: </strong>Hypothalamic-pituitary-adrenal (HPA) axis recovery after cessation of steroid therapy in children with nephrotic syndrome (NS) has hardly been studied in the literature.</p><p><strong>Methods: </strong>This 22-month cross-sectional study recruited children (2-14 years) with NS, having received a minimum 3 months of prednisolone, now in remission, and off steroids for 1, 3, or 6 months. Serum cortisol-basal and stimulated (with long-acting intramuscular adrenocorticotropic hormone), and factors affecting them, were assessed. Low basal and stimulated cortisol were taken as < 138 nmol/L and < 500 nmol/L, respectively.</p><p><strong>Results: </strong>Of 80 (60 males) children, median (IQR) age 64 (43, 91.7) months, most were infrequently relapsing (34; 42.5%) or had a single episode of NS (35; 43.8%). As per duration since discontinuation, 23 (28.8%), 35 (43.8%), and 22 (27.4%) children were off steroids for 1, 3, and 6 months, respectively. Overall, 8 (10%) and 26 (32.5%) had low basal and stimulated cortisol levels, respectively. Proportions of children with HPA axis suppression (low peak cortisol) were 9/23 (39%), 12/35 (34%), and 5/22 (23%) in the groups off steroids for 1, 3, and 6 months, respectively. Optimal peak cortisol level, indicating adrenal recovery, was independently associated with duration since cessation of prednisolone [odds ratio (6 months vs. 1 month) was 10.07 (95%CI 1.46 to 69.51); P = 0.019] and basal cortisol levels > 138 nmol/L (odds ratio 25.0 (95%CI 2.94 to 200); P = 0.03).</p><p><strong>Conclusions: </strong>Nearly two-thirds of children with mild courses of NS demonstrate optimal HPA axis function between 1 and 6 months post cessation of steroids. Duration since cessation and basal cortisol independently predict optimal adrenal response.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"1645-1651"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142952576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}