BMC Nephrology最新文献

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Time course profiling of the kynurenine pathway activity in a pig model of crescentic glomerulonephritis. 月牙状肾小球肾炎猪模型犬尿氨酸途径活性的时间过程分析。
IF 2.4 4区 医学
BMC Nephrology Pub Date : 2025-08-29 DOI: 10.1186/s12882-025-04423-6
Zahia Nadour, Julien Dang, Léa Resmini, Virginie Poindessous, Pierre-Louis Tharaux, Nicolas Pallet
{"title":"Time course profiling of the kynurenine pathway activity in a pig model of crescentic glomerulonephritis.","authors":"Zahia Nadour, Julien Dang, Léa Resmini, Virginie Poindessous, Pierre-Louis Tharaux, Nicolas Pallet","doi":"10.1186/s12882-025-04423-6","DOIUrl":"https://doi.org/10.1186/s12882-025-04423-6","url":null,"abstract":"","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"26 1","pages":"500"},"PeriodicalIF":2.4,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12398154/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144942662","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Sugar-free chewing gum's effect on patients receiving maintenance hemodialysis: a meta-analysis of RCTs. 无糖口香糖对维持性血液透析患者的影响:一项随机对照试验的荟萃分析。
IF 2.4 4区 医学
BMC Nephrology Pub Date : 2025-08-29 DOI: 10.1186/s12882-025-04430-7
Shi-Ying Li, Lei-Wen Tang, Ji Li, Yu-Ping Zhang
{"title":"Sugar-free chewing gum's effect on patients receiving maintenance hemodialysis: a meta-analysis of RCTs.","authors":"Shi-Ying Li, Lei-Wen Tang, Ji Li, Yu-Ping Zhang","doi":"10.1186/s12882-025-04430-7","DOIUrl":"https://doi.org/10.1186/s12882-025-04430-7","url":null,"abstract":"","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"26 1","pages":"502"},"PeriodicalIF":2.4,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12398023/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144942533","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neutrophil gelatinase-associated lipocalin and fibrinogen-to-albumin ratio are indicators of kidney disease in sickle cell disease patients with microalbuminuria: a multicentre case-control study in Ghana. 中性粒细胞明胶酶相关的脂钙蛋白和纤维蛋白原与白蛋白比率是镰状细胞病伴微量白蛋白尿患者肾脏疾病的指标:加纳的一项多中心病例对照研究
IF 2.4 4区 医学
BMC Nephrology Pub Date : 2025-08-29 DOI: 10.1186/s12882-025-04427-2
Stephen Twumasi, Enoch Odame Anto, Christian Obirikorang, Richard Kobina Dadzie Ephraim, Benedict Sackey, Vivian Paintsil, Richard Owusu Ansah, Alfred Effah, Allwell Adofo Ayirebi, Angela Opoku, Godfred Yawson Scott, Leslie Osei, Joyce Duku, Emmanuel Asafo Adjei, Lilian Antwi Boateng
{"title":"Neutrophil gelatinase-associated lipocalin and fibrinogen-to-albumin ratio are indicators of kidney disease in sickle cell disease patients with microalbuminuria: a multicentre case-control study in Ghana.","authors":"Stephen Twumasi, Enoch Odame Anto, Christian Obirikorang, Richard Kobina Dadzie Ephraim, Benedict Sackey, Vivian Paintsil, Richard Owusu Ansah, Alfred Effah, Allwell Adofo Ayirebi, Angela Opoku, Godfred Yawson Scott, Leslie Osei, Joyce Duku, Emmanuel Asafo Adjei, Lilian Antwi Boateng","doi":"10.1186/s12882-025-04427-2","DOIUrl":"10.1186/s12882-025-04427-2","url":null,"abstract":"<p><strong>Background: </strong>Neutrophil gelatinase-associated lipocalin (NGAL) is present in secondary granules of neutrophils and it is a relatively newly recognized marker of kidney diseases. The fibrinogen-to-albumin ratio (FAR) is a marker of inflammation but its diagnostic value has not been determined in sickle cell disease patients with kidney diseases. This study investigated the diagnostic roles of serum neutrophil gelatinase-associated lipocalin (sNGAL) and FAR for kidney diseases in steady-state adult sickle cell disease (SCD) patients.</p><p><strong>Methods: </strong>This study employed a prospective case-control design and recruited 104 SCD participants and 80 non-SCD patients. Participants' information was thoroughly documented using a structured questionnaire and patient case records. To evaluate the hematobiochemical parameters, 5 ml of venous blood was drawn from each participant and a clean catch of midstream urine was collected from each participant. The cases and controls were further categorized into microalbuminuria and non-microalbuminuria subjects, following three consecutive urine albumin-to-creatinine ratio (UACR) measurements.</p><p><strong>Results: </strong>The prevalence of microalbuminuria was 32.7% among adult steady-state SCD patients. Significant higher levels of sNGAL and FAR were detected in SCD patients with microalbuminuria than in SCD patients without microalbuminuria and controls (p < 0.001). A moderate positive correlation was observed between sNGAL and UACR (r = 0.45, p = 0.007). A unit increase in sNGAL (cOR: 3.25 (2.11-5.00); p < 0.001), aOR: 3.35(2.09-5.36); p < 0.0001)) and FAR (Log cOR: 12.26 (1.82-25.09); p = 0.022) were significantly associated with increased odds of kidney disease among SCD participants. sNGAL emerged as a highly early predictive marker for kidney disease in SCD patients, with a cutoff value of > 5.72 µg/L yielding a high area under the curve (AUC = 0.854, p < 0.0001). sNGAL also demonstrated an excellent sensitivity (91.2%) and moderate specificity (74.7%). The FAR at a cutoff of > 0.09 also demonstrated significant predictive value (AUC = 0.630, p = 0.009) for kidney disease in SCD patients, with a moderate sensitivity (67.6%) and specificity (61.3%).</p><p><strong>Conclusion: </strong>Based on our findings, sNGAL could serve as an independent early predictor of kidney disease compared with urea and creatinine. Additionally, the fibrinogen-to-albumin ratio can be used as inflammatory marker for kidney diseases in SCD patients.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"26 1","pages":"499"},"PeriodicalIF":2.4,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12395674/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144942405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Psychosocial and quality of life assessment in kidney transplant recipients: a focus on anxiety, depression, and clinical correlates. 肾移植受者的社会心理和生活质量评估:关注焦虑、抑郁和临床相关因素。
IF 2.4 4区 医学
BMC Nephrology Pub Date : 2025-08-29 DOI: 10.1186/s12882-025-04418-3
Mohammed Kamal Nassar, Eman Nagy, Mohamed Mohamed Elshial, Mostafa Mahmoud Samy, Mohamed Ali Eltamaly, Moustafa Nagi Elfarahati, Samar Tharwat
{"title":"Psychosocial and quality of life assessment in kidney transplant recipients: a focus on anxiety, depression, and clinical correlates.","authors":"Mohammed Kamal Nassar, Eman Nagy, Mohamed Mohamed Elshial, Mostafa Mahmoud Samy, Mohamed Ali Eltamaly, Moustafa Nagi Elfarahati, Samar Tharwat","doi":"10.1186/s12882-025-04418-3","DOIUrl":"https://doi.org/10.1186/s12882-025-04418-3","url":null,"abstract":"","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"26 1","pages":"501"},"PeriodicalIF":2.4,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12398012/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144942571","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Norepinephrine ameliorates sepsis-associated acute kidney injury through inhibiting damage of renal tubular epithelium induced by macrophage inflammatory response. 去甲肾上腺素通过抑制巨噬细胞炎症反应引起的肾小管上皮损伤,改善脓毒症相关急性肾损伤。
IF 2.4 4区 医学
BMC Nephrology Pub Date : 2025-08-29 DOI: 10.1186/s12882-025-04421-8
Yu Zeng, Qian Xiang, Yiyuan Yin, Zhaojin Zeng, Ziyuan Shen, Senhao Wei, Yao Yu, Deng Ying, Zhukai Cong
{"title":"Norepinephrine ameliorates sepsis-associated acute kidney injury through inhibiting damage of renal tubular epithelium induced by macrophage inflammatory response.","authors":"Yu Zeng, Qian Xiang, Yiyuan Yin, Zhaojin Zeng, Ziyuan Shen, Senhao Wei, Yao Yu, Deng Ying, Zhukai Cong","doi":"10.1186/s12882-025-04421-8","DOIUrl":"https://doi.org/10.1186/s12882-025-04421-8","url":null,"abstract":"<p><strong>Background: </strong>Norepinephrine (NE) has been reported to not only regulate cardiovascular activity but also influence inflammatory responses. But its role in sepsis-associated acute kidney injury (SA-AKI) has yet to be elucidated.</p><p><strong>Methods: </strong>SA-AKI mouse model was induced by intraperitoneally instillation of lipopolysaccharide. After treatment with NE, haemodynamic changes, kidney pathological injury, kidney funcion, systemic and kidney inflammatory responses, were evaluated. Cytokine levels and nuclear factor κB (NF-κB), MAPKs and Akt signalling pathways of macrophages were measured in vitro. Intercellular tight junction and cell viability were detected to evaluate the effect of macrophage inflammatory response on renal tubular epithelium.</p><p><strong>Results: </strong>NE enhanced cardiovascular haemodynamics, alleviated kidney histopathological injury and inflammatory cell infiltration, lowered the levels of kidney cytokines, NGAL, and KIM-1, as well as serum cytokines in SA-AKI mice. In vitro experiments indicated that NE suppressed the secretion of TNF-α, IL-6, and enhanced IL-10 secretion via a mechanism that involves inhibiting NF-κB rather than MAPKs or Akt activation of macrophage, and further alleviated the damage of renal tubule epithelium.</p><p><strong>Conclusion: </strong>NE ameliorated SA-AKI via a mechanism that involves inhibiting NF-κB activation to suppress excessive inflammatory responses of macrophages, and improve the injury of renal tubule epithelium, on its basis of improvement of hemodynamic changes in septic mice.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"26 1","pages":"498"},"PeriodicalIF":2.4,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12395834/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144942434","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The relationship between illness perception and general self-efficacy in hemodialysis patients: a cross-sectional study in south-western Iran. 血液透析患者疾病感知与自我效能的关系:伊朗西南部的一项横断面研究。
IF 2.4 4区 医学
BMC Nephrology Pub Date : 2025-08-28 DOI: 10.1186/s12882-025-04426-3
Masome Jafarzadeh, Mohammad Adineh, Shahram Molavynejad, Saeed Ghanbari
{"title":"The relationship between illness perception and general self-efficacy in hemodialysis patients: a cross-sectional study in south-western Iran.","authors":"Masome Jafarzadeh, Mohammad Adineh, Shahram Molavynejad, Saeed Ghanbari","doi":"10.1186/s12882-025-04426-3","DOIUrl":"10.1186/s12882-025-04426-3","url":null,"abstract":"","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"26 1","pages":"497"},"PeriodicalIF":2.4,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12395804/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144942586","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Health-economic evaluation of an AI-powered decision support system for anemia management in in-center hemodialysis patients. 中心血液透析患者贫血管理人工智能决策支持系统的健康经济评价
IF 2.4 4区 医学
BMC Nephrology Pub Date : 2025-08-28 DOI: 10.1186/s12882-025-04298-7
Afschin Gandjour, Christian Apel, Dana Kendzia, Luca Neri, Francesco Bellocchio, Len Usvyat, John Larkin, Jovana Petrovic Vorkapic
{"title":"Health-economic evaluation of an AI-powered decision support system for anemia management in in-center hemodialysis patients.","authors":"Afschin Gandjour, Christian Apel, Dana Kendzia, Luca Neri, Francesco Bellocchio, Len Usvyat, John Larkin, Jovana Petrovic Vorkapic","doi":"10.1186/s12882-025-04298-7","DOIUrl":"https://doi.org/10.1186/s12882-025-04298-7","url":null,"abstract":"<p><strong>Background: </strong>The Anemia Control Model (ACM) is a decision support system powered by an artificial intelligence core designed to assist nephrologists in managing anemia therapy for in-center hemodialysis (HD) patients. This study aims to evaluate the cost-effectiveness of the ACM compared to standard of care in Germany, defined as the absence of ACM and a hemoglobin (Hb) target achievement rate of less than 70% among in-center HD patients, based on results from matched observational studies.</p><p><strong>Methods: </strong>This simulation study adopted the perspective of the German statutory health insurance. A Markov (cohort) state-transition model was used to project the effects of the ACM over the remaining lifetime of patients. All costs were expressed in 2024 euros, and both costs and quality-adjusted life years (QALYs) were discounted at a rate of 3% per year. To test the sensitivity of the results, one-way sensitivity analyses and a probabilistic sensitivity analysis were performed.</p><p><strong>Results: </strong>This study finds that ACM provides more QALYs and incurs lower costs compared to standard of care. The net monetary value of ACM is €38,423 per patient in the base case scenario. In the sensitivity analysis, the annual cost of erythropoiesis-stimulating agents emerged as the variable with the largest impact on the value of ACM. The probabilistic sensitivity analysis shows that 100% of cost-effect pairs fall within the dominant southeast quadrant, indicating cost-effectiveness.</p><p><strong>Conclusions: </strong>This modelling study demonstrates that ACM is cost-effective for managing anemia in German in-center HD patients.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"26 1","pages":"496"},"PeriodicalIF":2.4,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12392536/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144942447","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Global, regional, and national burden of chronic kidney disease and its associated anemia, 1990 to 2021 and predictions to 2050: an analysis of the global burden of disease study 2021. 慢性肾脏疾病及其相关贫血的全球、区域和国家负担,1990年至2021年以及到2050年的预测:2021年全球疾病负担研究分析
IF 2.4 4区 医学
BMC Nephrology Pub Date : 2025-08-27 DOI: 10.1186/s12882-025-04398-4
Qiao Qi, Yongtao Hu, Qiqi Shen, Kun Tang, Jie Yu, Yuexian Xu, Qingfeng Huang, Bingbing Hou, Zongyao Hao
{"title":"Global, regional, and national burden of chronic kidney disease and its associated anemia, 1990 to 2021 and predictions to 2050: an analysis of the global burden of disease study 2021.","authors":"Qiao Qi, Yongtao Hu, Qiqi Shen, Kun Tang, Jie Yu, Yuexian Xu, Qingfeng Huang, Bingbing Hou, Zongyao Hao","doi":"10.1186/s12882-025-04398-4","DOIUrl":"https://doi.org/10.1186/s12882-025-04398-4","url":null,"abstract":"<p><strong>Background: </strong>Our objective was to conduct a thorough evaluation of the burden of CKD and its associated anemia by age and sex at the global, regional, and national levels, with projections extending to 2050.</p><p><strong>Methods: </strong>The data from the Global Burden of Diseases (GBD) 2021 were used to describe relevant indicators of CKD and its associated anemia. At different geographic levels, subgroup analysis was carried out by sex, age, and Socio-Demographic Index (SDI). The time trend was examined using the joinpoint regression and decomposition analyses, and predictive analysis was utilized to further estimate the disease burden to 2050.</p><p><strong>Results: </strong>The incidence, prevalence, mortality, and Disability-Adjusted Life Years (DALYs) of CKD, along with the prevalence and Years Lived with Disability (YLDs) of CKD-associated anemia, maintained a steady increase and would continue until 2050. In addition, the ASRs of mortality and DALYs attributable to CKD in 2021 were highest in low SDI regions. Regionally, CKD exhibited the greatest ASRs of mortality and DALYs in Central Latin America in 2021. Meanwhile, the disease burden of CKD and its associated anemia also showed significant differences at different national levels probably mainly due to population growth and aging. Moreover, the prediction analysis showed that the ASR of incidence attributable to CKD continued to increase.</p><p><strong>Conclusions: </strong>With the global population growth and aging, the disease burden of CKD and its associated anemia is still high and varies significantly at the global, regional, and national levels, which requires healthcare professionals to refine targeted interventions.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"26 1","pages":"495"},"PeriodicalIF":2.4,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12382167/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144942418","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Health inequalities and outcomes following acute kidney injury: a systematic review & meta-analyses of observational studies. 急性肾损伤后的健康不平等和结果:观察性研究的系统回顾和荟萃分析
IF 2.4 4区 医学
BMC Nephrology Pub Date : 2025-08-27 DOI: 10.1186/s12882-025-04391-x
Christopher H Grant, Anita Dahiya, Taylor Palechuk, Emilie Lambourg, Beatrix Tan, Ravindra L Mehta, Neesh Pannu, Samira Bell
{"title":"Health inequalities and outcomes following acute kidney injury: a systematic review & meta-analyses of observational studies.","authors":"Christopher H Grant, Anita Dahiya, Taylor Palechuk, Emilie Lambourg, Beatrix Tan, Ravindra L Mehta, Neesh Pannu, Samira Bell","doi":"10.1186/s12882-025-04391-x","DOIUrl":"https://doi.org/10.1186/s12882-025-04391-x","url":null,"abstract":"<p><strong>Background: </strong>Inequalities in health describe the uneven distribution of health outcomes that result from genetic or environmental factors. The extent to which inequalities impact on outcomes from AKI is uncertain. The aim of this systematic review and meta-analysis was to determine the impact of health inequalities on AKI outcomes.</p><p><strong>Methods: </strong>This review has been registered on PROSPERO (CRD42023422307). We included observational studies of adults who experienced at least one episode of AKI that reported outcomes stratified by sex/gender, race/ethnicity, deprivation, income, education, employment, housing, smoking, mental health conditions, geography or insurance status. The primary outcome was all-cause mortality and secondary outcomes were: progression to acute kidney disease; incident CKD; progressive CKD; AKI recovery; cardiovascular events; hospitalisations; ICU admission and hospital length of stay. The search was conducted in MEDLINE, Embase and Web of Science from inception to 10<sup>th</sup> January 2024. Study selection, extraction and risk of bias (Newcastle-Ottawa) were performed independently and studies meta-analysed where possible.</p><p><strong>Results: </strong>7,312 titles/abstracts were screened, and 36 studies included (n=2,038,441). Few included data from lower-middle income countries (n=3). Evidence predominantly related to sex/gender (n=25), race/ethnicity (n=14) and deprivation (n=11). On pooling relevant studies, no sex/gender-specific differences in all-cause mortality or AKI recovery were seen. Of twelve studies reporting mortality by race/ethnicity, six found no variation by racial/ethnic group. Six of nine studies reporting mortality by socioeconomic status found deprivation was an independent predictor of death. Few studies assessed the impact of mental health (n=3), insurance (n=1), housing (n=2), geography (n=1) and smoking status (n=3) and no reports quantified the impact of income, education, employment or substance use.</p><p><strong>Conclusion: </strong>This systematic review highlights a lack of evidence related to inequalities and AKI. Further studies are required to address these gaps and achieve progress towards equitable kidney health.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"26 1","pages":"494"},"PeriodicalIF":2.4,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12382016/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144942454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pathogenic synonymous variation of the COL4A3 gene causing Alport syndrome comorbid with IgA deposition in a toddler: a case report. COL4A3基因致病性同义变异导致幼儿Alport综合征伴IgA沉积:1例报告。
IF 2.4 4区 医学
BMC Nephrology Pub Date : 2025-08-27 DOI: 10.1186/s12882-025-04416-5
Panpan Shao, Wenpei Liang, Rongrong Xv, Yonghua He, Jinbo Xiang, Xueqing Ma, Jinyun Pu, Jianhua Zhou, Huiqing Yuan, Liru Qiu
{"title":"Pathogenic synonymous variation of the COL4A3 gene causing Alport syndrome comorbid with IgA deposition in a toddler: a case report.","authors":"Panpan Shao, Wenpei Liang, Rongrong Xv, Yonghua He, Jinbo Xiang, Xueqing Ma, Jinyun Pu, Jianhua Zhou, Huiqing Yuan, Liru Qiu","doi":"10.1186/s12882-025-04416-5","DOIUrl":"https://doi.org/10.1186/s12882-025-04416-5","url":null,"abstract":"<p><strong>Background: </strong>Alport syndrome (AS) is a hereditary kidney disorder caused by pathogenic variations in COL4 genes and is clinically characterized by hematuria, proteinuria, and progressive renal impairment. IgA nephropathy (IgAN) is a clinicopathological syndrome characterized by the deposition of IgA or IgA-dominant in the glomerular mesangial areas.</p><p><strong>Case presentation: </strong>This article reports a case of a 2-year-and-3-month-old female toddler who presented with hematuria and proteinuria. Renal biopsy revealed IgA deposition, and a few segments displayed atypical tearing and layering changes in the dense layer. Family screening revealed that the father and grandmother of the patient had been diagnosed with thin basement membrane disease. Genetic testing revealed compound heterozygous variations c.4793T > G (p.Leu1598Arg) and c.765G > A (p.Thr255Thr) in the COL4A3 gene. Both hematuria and proteinuria improved significantly with treatment involving steroids, mycophenolate mofetil, tacrolimus, and angiotensin-converting enzyme inhibitors (ACEIs), but both recurred and slowly increased under ACEIs monotherapy. The toddler was ultimately diagnosed with AS comorbid with IgAN, and the variant c.765G > A (p.Thr255Thr) from the father is suspected to be pathogenic based on familial segregation and predictive evidence.</p><p><strong>Conclusion: </strong>Younger children with AS exhibit milder clinical manifestations or are asymptomatic. Biallelic pathogenic variations and IgA deposition may accelerate AS disease progression. Synonymous variations can also be pathogenic.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"26 1","pages":"493"},"PeriodicalIF":2.4,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12382248/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144942523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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