BMC Nephrology最新文献

{"title":"Novel insights into the molecular mechanisms of sepsis-associated acute kidney injury: an integrative study of GBP2, PSMB8, PSMB9 genes and immune microenvironment characteristics.","authors":"Haiting Ye, Xiang Zhang, Pengyan Li, Mei Wang, Ruolan Liu, Dingping Yang","doi":"10.1186/s12882-025-04069-4","DOIUrl":"https://doi.org/10.1186/s12882-025-04069-4","url":null,"abstract":"<p><strong>Background: </strong>Sepsis-associated acute kidney injury (SA-AKI) is a prevalent and severe complication of sepsis, but its complex pathogenesis remains unclear. This study aims to identify potential biomarkers for SA-AKI by elucidating its molecular mechanisms through bioinformatics methods.</p><p><strong>Methods: </strong>Transcriptional data related to SA-AKI were obtained from the Gene Expression Omnibus (GEO) database. We used differentially expressed genes (DEGs) and weighted gene co-expression network analysis (WGCNA) to identify characteristic genes associated with SA-AKI and conducted enrichment analyses. Hub genes were determined using protein-protein interaction (PPI) network analysis and the Least Absolute Shrinkage and Selection Operator (LASSO). Additionally, ROC curves were plotted to assess the diagnostic value of these core genes. Immune cell infiltration was analyzed using the CIBERSORT algorithm, and potential associations between the hub genes and clinicopathological features were explored based on the Nephroseq database. Finally, a murine model of SA-AKI was induced with lipopolysaccharide (LPS) to validate the findings, and mRNA abundance and protein production levels of pivotal genes were confirmed via RT-qPCR, Western blotting, and immunohistochemical methods.</p><p><strong>Results: </strong>We identified 268 characteristic genes associated with SA-AKI that are enriched in immune and inflammation-related pathways. Utilizing machine learning techniques, three key genes were screened: GBP2, PSMB8 and PSMB9. The expression patterns of these three genes were well-validated through animal experiments and databases. Correlation between these genes and clinical indicators was confirmed using the Nephroseq database. Furthermore, immune infiltration analysis provided additional insights into their potential functions.</p><p><strong>Conclusion: </strong>GBP2, PSMB8, and PSMB9 are promising candidate genes for SA-AKI, providing a novel perspective on its pathological mechanisms. Further exploration of the biological roles of these genes in the pathogenesis of SA-AKI is needed in the future.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"26 1","pages":"160"},"PeriodicalIF":2.2,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11954279/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143741808","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}

{"title":"Examining kidney donation in Nigeria: a mixed methods study of family members' knowledge, perceptions, information needs and decision-making.","authors":"Manmak Mamven, Oluseyi Ademola Adejumo, Imuetinyan Rashida Edeki, Dapo Sunday Oyedepo, Stanley Chidozie Ngoka, Alhaji Abdu, Moses Tari Tuko, Lawrence Adedeji Adeyeye, Umar Loskurima, Ayodeji Fasaanu, Nwokedi Chinedu Madu, Dorcas Angbazo, Ibrahim Ummate","doi":"10.1186/s12882-025-04064-9","DOIUrl":"https://doi.org/10.1186/s12882-025-04064-9","url":null,"abstract":"<p><strong>Background: </strong>A major challenge of transplantation is the unavailability of organs. For a successful transplantation process, awareness and negative attitudes among potential donors need to be sought for and addressed. Our objective was to examine the knowledge, perception and information needs of family members of patients with chronic kidney disease (CKD) in Nigeria and factors associated with their likelihood to decide to donate a kidney.</p><p><strong>Methods: </strong>This was a convergent parallel mixed method study that obtained information from family members of patients with CKD in Nigeria. Ordinal logistic regression was used to determine factors associated with the likelihood of donation. Thematic analysis was used for the qualitative analysis.</p><p><strong>Results: </strong>Three hundred and six respondents with a mean age of 41.2 ± 12.9 years participated in the quantitative survey. About 30% of participants were not familiar with the concept of kidney donation; 63% had never sought information about kidney donation; about 75% felt inadequately informed about the risks, benefits, and requirements of kidney donation. About 26% of participants were unlikely to consider donating a kidney to a family member with CKD. The majority expressed medical risk (47%) as their primary concern with donation. The age group of respondents (OR 0.48, 95% CI 0.239-0.967, P = 0.04), parent/child relationship, (OR 2.42, 95%CI 1.198-4.886, P = 0.01), awareness of the suitable medical factors for donation (OR 2.07, 95%CI 1.127-3.796, P = 0.02), and provision of support or counsel to donors (OR 3.89, 95%CI 1.576-9.638, P = 0.003), were independently associated with decisions to donate. The qualitative analysis identified personal, socio-cultural, religious and psychological factors that could influence willingness to donate.</p><p><strong>Conclusion: </strong>This study identified factors that influenced donations and brought to the fore the need to adequately educate and provide support for potential kidney donors.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"26 1","pages":"161"},"PeriodicalIF":2.2,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Urinary biomarkers in prediction of subclinical acute kidney injury in pediatric oncology patients treated with nephrotoxic agents.","authors":"Gordana Miloševski-Lomić, Jelena Kotur-Stevuljević, Dušan Paripović, Srdjan Nikolovski, Jelena Lazić, Predrag Rodić, Goran Milošević, Jadranka Mitrović, Biljana Vukmir, Ana Petrović, Amira Peco-Antić","doi":"10.1186/s12882-025-04085-4","DOIUrl":"10.1186/s12882-025-04085-4","url":null,"abstract":"<p><strong>Background: </strong>Acute kidney injury (AKI) is a common complication in pediatric oncology patients, most often caused by nephrotoxic drugs. We aimed to assess whether levels of urinary kidney injury molecule-1 (uKIM-1), neutrophil gelatinase-associated lipocalin (uNGAL), liver fatty acid binding protein (uL-FABP) and Vanin-1 (uVNN-1), individually and in combination-integrated could be early markers for cytotoxic treatment induced AKI.</p><p><strong>Methods: </strong>Children with different malignant diseases treated with cisplatin (CIS) or ifosfamide (IFO) were included. AKI was defined using pediatric KDIGO (Kidney Disease Improving Global Outcomes) criteria by comparing pretreatment serum creatinine (sCr) values with those acquired at 48 h after the first or second chemotherapy cycle. Five serum (at baseline, 2, 6, 24 and 48 h after treatment) and four urine samples (at baseline, 2, 6 and 24 h after treatment) were obtained. Urinary biomarkers (uBm) were normalized to urine creatinine.</p><p><strong>Results: </strong>Thirty-eight patients were assessed. Within 48 h following chemotherapy 6 (15.79%) patients experienced AKI. Patients with AKI were younger and tend to have lower baseline sCr values than patients without AKI, but these differences were not statistically significant. Compared to baselines, all uBm were significantly increased during the first 6 h while sCr concentrations did not change significantly during the study period. The median increases in uBm during the first 6 h after treatment were 529.8% (interquartile range - IQR, 63.9-1835.2%) - 2194.0% (IQR, 255.3-4695.5%) in AKI vs. 302.2% (IQR 114.6-561.2%) -429.8% (156.5-1467.0%) in non-AKI group depending of tested uBm. The magnitude of these changes over time didn't differ significantly between groups. The area under receiver operator curve (AUC) for uL-FABP and uNGAL at 24 h after chemotherapy were 0.81 and 0.72, respectively. The ROC analysis revealed that the other individual biomarkers' performance at any time-point wasn't statistically significant (AUC < 0.7). A model of integrated-combined uBm, 2 h (AUC 0.78), 6 h (AUC 0.85) and 24 h after (AUC 0.92) treatment with CIS and/or IFO showed good utility for early AKI prediction.</p><p><strong>Conclusions: </strong>The results of this study support that the use of the uBm to improves early AKI prediction in patients receiving CIS and/or IFO containing chemotherapy. Further studies on larger comparable groups of patients are needed.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"26 1","pages":"159"},"PeriodicalIF":2.2,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11951557/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143728525","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}

{"title":"Ten tips for managing complement-mediated thrombotic microangiopathies (formerly atypical hemolytic uremic syndrome): narrative review.","authors":"Pilar Musalem","doi":"10.1186/s12882-025-04080-9","DOIUrl":"10.1186/s12882-025-04080-9","url":null,"abstract":"<p><p>Complement-mediated thrombotic microangiopathies (CM-TMA) are rare and life-threatening disorders characterized by microangiopathic hemolytic anemia, thrombocytopenia, and organ damage. These conditions result from dysregulation of the alternative complement pathway, often due to genetic variants or autoantibodies. The clinical spectrum is broad, comprising varied presentations and triggers, including infections, malignancies, and pregnancy-related complications. Advances in understanding the genetic and immunological basis of CM-TMA have improved diagnosis and treatment. Diagnosis requires exclusion of other thrombotic microangiopathies like thrombotic thrombocytopenic purpura and secondary causes, with genetic testing recommended to identify underlying susceptibilities. The introduction of C5 inhibitors has transformed the management of CM-TMA, significantly improving outcomes compared to the pre-2011 era when therapeutic plasma exchange was the primary therapy. Despite these advances, challenges remain in determining the optimal duration of therapy. Prophylactic measures against infections, particularly meningococcal disease, are mandatory for patients receiving C5 inhibitors. This article underscores the need for a personalized, multidisciplinary approach in the diagnosis and management of CM-TMA. Advances in genetics and complement biology have led to improved therapeutic strategies, however ongoing research is essential to address unanswered questions regarding relapse risk, treatment duration, and long-term outcomes.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"26 1","pages":"158"},"PeriodicalIF":2.2,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11951749/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143728520","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}

{"title":"Real-world use of difelikefalin in hemodialysis patients at a large dialysis organization in the United States: a retrospective database study.","authors":"Linda H Ficociello, Rachel Lasky, Hans-Juergen Arens, Despina Ruessmann, Michael S Anger","doi":"10.1186/s12882-025-04074-7","DOIUrl":"10.1186/s12882-025-04074-7","url":null,"abstract":"<p><strong>Background: </strong>Chronic kidney disease-associated pruritus (CKD-aP) can negatively impact quality of life and survival among patients receiving maintenance hemodialysis. Difelikefalin, a selective κ-opioid receptor agonist, is the first medication approved for treatment of moderate-to-severe CKD-aP among patients on chronic hemodialysis. This retrospective database study assessed the real-world safety and effectiveness of difelikefalin across a large US dialysis organization.</p><p><strong>Methods: </strong>We analyzed de-identified data from 715 adult hemodialysis patients treated with difelikefalin who had a Worst Itching Intensity Numerical Rating Scale (WI-NRS) score (0 = no itching to 10 = worst itch imaginable) assessed before therapy. Patients were classified as having received at least 30 difelikefalin doses over 12 weeks (complete regimen group; CRG) or fewer doses over that time period (incomplete regimen group; IRG). Mean baseline and follow-up WI-NRS scores were compared and potential adverse events evaluated.</p><p><strong>Results: </strong>Mean (SD) baseline WI-NRS scores were 8.5 (1.7), indicative of severe pruritic symptomatology. In the 22% of patients with follow-up data, mean WI-NRS scores improved by 2.9 points (8.4 [severe] to 5.4 [moderate]; P < 0.0001). This mean improvement was more pronounced in CRG patients (n = 84; 3.6) compared with IRG patients (n = 84; 2.2). Overall, 46% of patients experienced a 3-point reduction in itch severity. Difelikefalin initiation was not associated with changes in rates of nausea, diarrhea, vomiting, headache, or trouble walking. Dizziness and hyperkalemia were infrequent, but statistically significant with increases in dizziness (0.09% vs. 0.20%) and hyperkalemia (2.0% vs. 2.6%) were observed during treatment with difelikefalin.</p><p><strong>Conclusions: </strong>In this analysis of real-world difelikefalin use in a US hemodialysis population, patients experienced significant reductions in CKD-aP, based on a validated measure of pruritus. Patients remaining on therapy for 12 weeks demonstrated greater symptom reductions than those patients receiving partial treatment. In combination with controlled trials, these data suggest that difelikefalin is an effective and well-tolerated treatment for the management of CKD-aP in adult patients receiving hemodialysis.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"26 1","pages":"156"},"PeriodicalIF":2.2,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11948630/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143728516","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}

{"title":"Assessing pain levels and quality of life in peritoneal dialysis patients: a cross-sectional study.","authors":"Amjad Bdair, Rami Tamimi, Ahmad Shratih, Dania Abuhalima, Mazen Abdalla, Alaa Sarsour, Kamel Jebreen, Zakaria Hamdan, Zaher Nazzal","doi":"10.1186/s12882-025-04083-6","DOIUrl":"10.1186/s12882-025-04083-6","url":null,"abstract":"<p><strong>Background: </strong>End-stage renal disease is a significant global health issue, and Peritoneal Dialysis (PD) is a vital treatment modality. The study aims to assess the Quality of Life (QoL) and pain levels in PD patients and explore potential influencing factors.</p><p><strong>Methods: </strong>A cross-sectional study was conducted in 2022 involving 76 PD patients at a referral tertiary dialysis center in Palestine. The study evaluated patient demographics, clinical data, laboratory measures, quality of life as assessed by the KDQOL-SF36, and pain levels as determined by the Brief Pain Inventory. Statistical analyses, including multivariate linear regression, were employed to identify relevant associations.</p><p><strong>Results: </strong>This study included 76 PD disease patients, with 68.4% being under the age of 60 and 53.9% being male. Almost one-third of the participants (34.0%) reported mild to severe pain, and 23.7% reported low to high interference levels. Pain severity was negatively correlated with supplement doses for both vitamin D3 (p = 0.049) and calcium (p < 0.01). Female patients reported higher pain severity (p = 0.001) and interference (p < 0.007) levels. The study revealed relatively higher QoL among our cohort of PD patients compared to previously published findings in similar settings, specifically for HD populations. Factors such as age, comorbid conditions, and duration of dialysis influenced QoL (p < 0.05). Pain severity and interference were negatively correlated with QoL (p = 0.01).</p><p><strong>Conclusion: </strong>This study provides valuable insights into the QoL and pain experiences of PD patients in Palestine. It underscores the importance of effective pain management strategies and holistic care to improve QoL in this patient population. Addressing psychological and emotional well-being is vital for optimizing treatment adherence and long-term outcomes.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"26 1","pages":"155"},"PeriodicalIF":2.2,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11948673/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143728512","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}

{"title":"Venous Excess Doppler ultrasound assessment and loop diuretic efficiency in acute cardiorenal syndrome.","authors":"Eslam Abu-Naeima, Moataz Fatthy, Mahmoud Amin Abu-Sheaishaa Shalaby, Ghada Ayeldeen, Frederik H Verbrugge, Philippe Rola, William Beaubien-Souligny, Ahmed Fayed","doi":"10.1186/s12882-025-04060-z","DOIUrl":"10.1186/s12882-025-04060-z","url":null,"abstract":"<p><strong>Background: </strong>Cardiorenal syndrome poses significant diagnostic and therapeutic challenges. The Venous Excess Ultrasound (VExUS) grading system based on the combination of venous Doppler assessments has shown potential in predicting acute kidney injury and cardiovascular outcomes, but its relevance regarding the management of acutely decompensated heart failure (ADHF) remains to be fully understood.</p><p><strong>Methods: </strong>In this prospective study, patients with ADHF and acute kidney injury (AKI) were enrolled from a medical intensive care unit over 20 months. The study involved echocardiography and VExUS grading at admission and 72 h later. Data collection included clinical parameters, diuretic dosages, urine output, and fluid balance. Statistical analyses focused on exploring the relationships between VExUS grades and its components, including the renal venous stasis index (RVSI), diuretic efficiency, and renal function improvement.</p><p><strong>Results: </strong>The cohort of 43 patients showed varied VExUS grades at admission. Higher VExUS grades were significantly associated with lower diuretic efficiency. Specifically, the mean urine output per 40 mg of furosemide was 368 ± 213 mL, with patients having VExUS grade 2 or 3 exhibiting reduced diuretic efficiency compared to those with grade 0-1 (Grade 2 vs. Grade 0-1: 333 ± 214 mL vs. 507 ± 189 mL, p = 0.02; Grade 3 vs. Grade 0-1: 270 ± 167 mL vs. 507 ± 189 mL, p = 0.004). The relationship between VExUS grade and diuretic efficiency was independent of admission creatinine and prior use of loop-diuretics (β = -106 CI: -180; -32 p = 0.006). Among the components of venous congestion assessment, the RVSI had the best ability to predict low diuretic efficiency (AUROC: 0.76 (0.60; 091) p = 0.001). Improvement in VExUS grade at 72 h was correlated with significant renal function improvement (84.6% vs. 47.1% for improved vs. non-improved VExUS grades, p = 0.03).</p><p><strong>Conclusion: </strong>High VExUS and RVSI grades at admission are independently associated with reduced diuretic efficiency in ADHF patients with AKI. The findings emphasize the clinical value of venous congestion assessment in cardiorenal syndrome management including the selection of an initial diuretic dose.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"26 1","pages":"157"},"PeriodicalIF":2.2,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11951500/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143728526","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}

{"title":"Emerging role of Rituximab in adult minimal change disease: a narrative review of clinical evidence, biomarkers and future perspectives.","authors":"Anni Zhong, Yi Yu, Tao Cao, Qijun Wan, Ricong Xu","doi":"10.1186/s12882-025-04086-3","DOIUrl":"10.1186/s12882-025-04086-3","url":null,"abstract":"<p><p>Minimal change disease (MCD) represents a significant cause of nephrotic syndrome in adults, traditionally managed with corticosteroids despite substantial relapse rates. This review critically evaluates the emerging role of rituximab (RTX) in adult MCD management, synthesizing current evidence across multiple clinical scenarios. Recent studies demonstrate RTX's multifaceted efficacy, particularly in new-onset cases and steroid-dependent/frequently relapsing patients, with the discovery of anti-nephrin antibodies providing unprecedented insights into MCD pathogenesis. RTX's therapeutic mechanisms involve anti-nephrin antibody depletion, T-cell subset modulation, and direct podocyte protection, showing encouraging complete remission rates and substantially reduced relapse rates. While RTX offers a more favorable safety profile compared to long-term corticosteroid therapy, current evidence remains predominantly based on retrospective studies with limited sample sizes. Critical research priorities include large-scale prospective trials, standardization of treatment protocols, and further investigation of anti-nephrin antibodies as therapeutic targets. This review provides evidence-based insights for clinical decision-making while highlighting crucial areas for future investigation in RTX-based MCD management.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"26 1","pages":"152"},"PeriodicalIF":2.2,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11938555/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143717937","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}

{"title":"The role of SLC12A3 gene variant c.1964G > A in co-existing Gitelman syndrome and unilateral limb paralysis: a case report and literature review.","authors":"Fuhui Ma, Reziwanguli Wusiman, Rui Ma, Xinling Wang, Kaidi Zhang, Yanying Guo","doi":"10.1186/s12882-025-04075-6","DOIUrl":"10.1186/s12882-025-04075-6","url":null,"abstract":"<p><p>We report a Gitelman syndrome (GS) pedigree from a Chinese family. The proband, a middle-aged man, presented with hypokalemia, hypomagnesemia, and unilateral limb paralysis. After a comprehensive evaluation, peripheral neuropathy and the cranial or spinal cord disorders were ruled out. Genetic testing identified a homozygous c.1964G > A variant in the SLC12A3 gene. Despite potassium and magnesium supplementation, the patient's clinical symptoms persisted. Additionally, 13 heterozygous family members, including his parents, showed no typical GS manifestations. However, the proband's two brothers, who also carried the same homozygous mutation and exhibited hypokalemia and hypomagnesemia, did not develop unilateral limb paralysis. This case suggests that the c.1964G > A variant may be associated with a severe GS phenotype, including unilateral limb paralysis. Clinicians should be aware of the diagnostic challenges and therapeutic limitations in managing GS, particularly in patients with severe manifestations. Genetic testing is essential for accurate diagnosis, and ongoing monitoring and symptomatic management are critical to improving the quality of life for affected individuals.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"26 1","pages":"153"},"PeriodicalIF":2.2,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11948631/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143717939","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}

{"title":"Adropin as a protective agent against renal ischemia-reperfusion injury induced by suprarenal aortic cross-clamping in rats.","authors":"Cengiz Guven, Seda Koçak, Abdullah Karadag, Hasan Aydın, Alper Yalcin, Ahmet Turk","doi":"10.1186/s12882-025-04087-2","DOIUrl":"10.1186/s12882-025-04087-2","url":null,"abstract":"<p><strong>Background: </strong>The development of protective therapeutic strategies against acute kidney injury associated with suprarenal aneurysms, renal artery occlusive disease, and suprarenal aortic reconstruction is of paramount importance. Adropin is a peptide hormone that has been shown to protect vascular endothelial cells and reduce oxidative stress, apoptosis, and inflammation. Therefore, in addition to its metabolic and vascular effects, adropin has potential as a therapeutic agent in renal ischemia-reperfusion injury. This study aims to investigate the protective effects of adropine on kidney ischemia-reperfusion (IR) injury under the suprarenal aortic cross clamp.</p><p><strong>Methods: </strong>Male Sprague Dawley rats were divided into six groups, with seven rats in each group for the study design. The control and ischemia reperfusion (IR) induced groups were designated as the two groups while the other four groups (TR1 to TR4 ) were administered varying doses of adropin at 0.5 mg/kg, 1 mg/kg, 1.5 mg/kg, and 2 mg/kg for each group. After a 60 min ischemic period, a 24-hour reperfusion period was implemented to assess the outcomes of adropin treatment on renal IR. Histopathological analysis was performed in conjunction with determination of apoptosis, and malondialdehyde (MDA) levels. In addition, serum concentrations of adropin, superoxide dismutase (SOD), glutathione peroxidase (GSH-Px), as well as endothelial nitric oxide synthase (eNOS) were measured in order to further define the biochemical reactions of the treatment.</p><p><strong>Results: </strong>MDA levels were significantly elevated in the IR group compared to the control group, while the activities of eNOS, SOD, and GSH-Px enzymes were significantly decreased (P < 0.05). MDA levels in the treatment groups were lower than those in the IR group, whereas eNOS, SOD, and GSH-Px levels were higher (P < 0.05). Statistically, the lowest adropin levels were observed in the IR group, while the highest levels were noted in the TR4 group (P < 0.05). Histopathological examination revealed a reduction in tissue damage in the treatment groups compared to the IR group.</p><p><strong>Conclusion: </strong>The histological and biochemical findings from this study indicate that adropin provides protective effects against renal ischemia-reperfusion injury in a dose-dependent manner.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"26 1","pages":"154"},"PeriodicalIF":2.2,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11948768/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143717935","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}