Kidney & blood pressure research最新文献

{"title":"Roles of serum NLRP3 inflammasome and associated cytokines in gout-induced kidney injury.","authors":"Xiaoqing Xu, Juanjuan Zhang, Yanqun Wu","doi":"10.1159/000545492","DOIUrl":"https://doi.org/10.1159/000545492","url":null,"abstract":"<p><strong>Introduction: </strong>Gout, characterized by hyperuricemia and urate crystal deposition, is associated with systemic inflammatory complications, including kidney injury. This study aimed to investigate the role of serum nucleotide-binding oligomerization domain-like receptor 3 (NLRP3) inflammasome and associated cytokines (IL-1β and IL-18) in gout-related kidney injury (GRI).</p><p><strong>Methods: </strong>A total of 279 gout patients (96 with renal injury and 183 without renal injury) and 100 healthy controls were included. Serum NLRP3, IL-1β, and IL-18 were measured and compared using enzyme-linked immunosorbent assay. Receiver operating characteristic (ROC) analysis was carried out to evaluate the diagnostic values of individual or combinational biomarkers. Spearman's correlation analysis was employed to analyze correlations between NLRP3, IL-1β, and IL-18 and renal function indicators or serum uric acid.</p><p><strong>Results: </strong>Serum levels of NLRP3, IL-1β, and IL-18 were significantly higher in gout patients compared to healthy controls [p < 0.001, gout group with kidney injury (GKI): n = 96, gout group without kidney injury (GNKI): n = 183, controls: n = 100], with elevated levels observed in GKI patients compared to GNKI (p < 0.001). Correlations between these markers were confirmed among all gout patients (n = 279), including serum NLRP3 with IL-1β (r = 0.34, p < 0.001) and NLRP3 with IL-18 (r = 0.47, p < 0.001). ROC analysis revealed that the combined model of NLRP3, IL-1β, and IL-18 showed improved diagnostic accuracy for GRI, with an AUC of 0.85 (95% CI: 0.81-0.89, p < 0.001). In GKI patients (n = 96), serum NLRP3, IL-1β, and IL-18 were inversely correlated with eGFR (NLRP3: r = -0.43, p < 0.01). Additionally, serum IL-18 positively correlated with serum uric acid levels (r = 0.27, p = 0.009).</p><p><strong>Conclusion: </strong>These findings highlight the potential of serum NLRP3, IL-1β, and IL-18 as diagnostic markers and therapeutic targets in GRI, providing insights into early intervention and improved clinical outcomes in gout patients with renal complications.</p>","PeriodicalId":17813,"journal":{"name":"Kidney & blood pressure research","volume":" ","pages":"1-16"},"PeriodicalIF":2.3,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144002700","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":"Preoperatory Flot Regimen for Gastroesophageal Cancer and Renal Function: A New Onco-Nephrological Perspective.","authors":"Matteo Floris, Andrea Angioi, Nicole Liscia, Michele Ghidini, Alessandra Cinque, Marco Puzzoni, Antonello Pani, Nicola Lepori, Mario Scartozzi, Manuela Dettori, Gianfranca Cabiddu, Paola Testoni, Stefano Cascinu, Elena Mazza, Francesco Trevisani","doi":"10.1159/000545638","DOIUrl":"https://doi.org/10.1159/000545638","url":null,"abstract":"<p><p>(1) Background: The FLOT regimen, a combination of fluorouracil, leucovorin, oxaliplatin, and docetaxel, is a standard treatment for gastric and esophagogastric junction cancers, but concerns exist about its potential renal toxicity. The exact prevalence and severity of renal toxicity need to be well-documented, and this knowledge gap could impact the optimal use of the FLOT regimen in clinical practice. We aimed to evaluate the renal toxicity profile of the FLOT regimen with a specific focus on Acute Kidney Disease onset in a real-life setting and explore associated risk factors. (2) Methods: We conducted a multicenter retrospective study involving 96 patients treated with preoperatory FLOT. The incidence of acute kidney disease (AKD) and potential risk factors were identified. (3) Results: AKD occurred in three patients (incidence rate of 0.0122 cases/month of follow-up). Oral antidiabetic agents and prostate hypertrophy emerged as significant predictors of AKD. (4) Conclusion: Acute Kidney Disease is uncommon in patients treated with the preoperatory FLOT regimen. Our findings highlight the importance of diligent renal function monitoring and appropriate preventive strategies in patients undergoing FLOT treatment. These results encourage the conduction of further studies and clinical experiences in larger populations and patients with lower baseline eGFR.</p>","PeriodicalId":17813,"journal":{"name":"Kidney & blood pressure research","volume":" ","pages":"1-21"},"PeriodicalIF":2.3,"publicationDate":"2025-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144017008","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":"Relation of Serum Creatinine Twitches and Outcomes among STEMI Patients.","authors":"Shir Frydman, Ophir Freund, Lior Zornitzki, Nevo Barel, Shmuel Banai, Yacov Shacham","doi":"10.1159/000545523","DOIUrl":"https://doi.org/10.1159/000545523","url":null,"abstract":"<p><strong>Background: </strong>Acute kidney injury (AKI) is notoriously associated with adverse outcomes and mortality in patients with acute coronary syndrome. However, using the general cutoff of 0.3 mg/dL increase from baseline for AKI definition and neglecting smaller changes could result in late diagnosis and impaired prognostication. We aimed to assess the prognostic utility of minor creatinine changes (\"twitches\") in a large cohort of ST-segment-elevation myocardial infraction (STEMI) patients and determine an optimal cutoff value for future use.</p><p><strong>Methods: </strong>This retrospective analysis of a prospective database included 2933 consecutive patients admitted with STEMI between 2008-2022 to the cardiac intensive care unit of a large tertiary medical center. Renal function was assessed upon admission and at-least once daily thereafter. Creatinine twitches were defined as a change from baseline to peak creatinine level of between 0.1 to 0.3 mg/dl. 30-day and 1-year mortality were the main outcomes.</p><p><strong>Results: </strong>From the study cohort (mean age 62 ±13, 19% female, 16% with prior MI), 551 (19%) subjects presented creatinine twitches and 254 (9%) developed AKI. Compared to subjects with stable creatinine, those with creatinine twitches had higher rates of 30-day (1% vs. 2.5%, p<0.001) and 1-year (1.6% vs. 4.4%, p<0.001) mortality. In cox multivariate analysis, creatinine twitches had a higher hazard for 1-year mortality (HR 1.87, 95% CI 1.1-3.2) and only a trend for 30-day mortality (HR 1.52, 95% CI 0.96-2.96). Creatinine rise had an area under the curve of 0.780 (95% CI 0.73-0.83) for 1-year mortality prediction, and 0.12 mg/dl was the optimal cutoff for prediction, with a sensitivity of 71%, specificity of 79%. In sub-group multivariate analysis, only twitches that did not resolve during hospitalization had higher hazard for mortality (HR 3.42, 95% CI 1.65-7.05).</p><p><strong>Conclusion: </strong>Serum creatinine twitches are common among STEMI patients and correlate with elevated 30 days and 1-year mortality. These seemingly minor changes should prompt renal protective strategies for early detection and treatment.</p>","PeriodicalId":17813,"journal":{"name":"Kidney & blood pressure research","volume":" ","pages":"1-20"},"PeriodicalIF":2.3,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143764235","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":"Impact of renal artery stenosis on renovascular hypertension and the therapeutic role of renal artery stenting: a comprehensive review.","authors":"Changgang Shao, Guoqing Chi, Fang Li, Hongcheng Ren, Liyan Zhang, Jinming Yang, Bin Wang, Mingchao Ding","doi":"10.1159/000545135","DOIUrl":"https://doi.org/10.1159/000545135","url":null,"abstract":"<p><p>Background Renal artery stenosis (RAS) is characterized by reduced renal perfusion, activating the renin-angiotensin-aldosterone system (RAAS), which can lead to secondary hypertension, ischemic nephropathy, and cardiac destabilization syndrome. These conditions have significant healthcare implications. Renovascular hypertension (RVH) in RAS patients can be managed through medical therapy and revascularization, either endovascular or surgical. While renal artery stenting (RAS) was once viewed as the most effective treatment for atherosclerotic renovascular disease, recent trials suggest no significant difference in RVH management between medical therapy alone and combined with renal artery stenting. However, certain subgroups have exhibited favorable outcomes in blood pressure control post-stenting. Summary This comprehensive review synthesizes data, including findings from the HERCULES trial, which showed a reduction in blood pressure from 162.3±18.5/77.7±11.5 mmHg to 145.7±20.7/75.4±11.0 mmHg over 36 months (P<0.0001). Additionally, the ASPIRE-2 study demonstrated significant decreases in blood pressures from 168±25/82±13 mmHg to 149±25/77±12 mmHg at 24 months (P<0.001). The review delves into the prevalence, pathophysiology, clinical manifestations, diagnosis, and treatment of RAS-related RVH, specifically analyzing the efficacy and safety of renal artery stenting. Key Messages The analysis indicates that renal artery stenting may be particularly advantageous for certain patient subgroups, enhancing blood pressure outcomes and overall clinical status. Nevertheless, the criteria for selecting candidates for this intervention remain under debate. Future research should focus on high-risk RAS patients to explore long-term benefits and refine the utilization of renal artery stents, ultimately improving RVH management.</p>","PeriodicalId":17813,"journal":{"name":"Kidney & blood pressure research","volume":" ","pages":"1-15"},"PeriodicalIF":2.3,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597343","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":"Exploring the Interplay of Factors in Chronic Kidney Disease: Insights from The Malaysian Cohort Study.","authors":"Noraidatulakma Abdullah, Norfazilah Ahmad, Azmawati Mohammed Nawi, Mohd Rohaizat Hassan, Ying-Xian Goh, Norliza Ismail, Nazihah Abd Jalal, Raihannah Othman, Azwa Shawani Kamalul Arifin, Mohd Arman Kamaruddin, Rahman Jamal","doi":"10.1159/000542732","DOIUrl":"10.1159/000542732","url":null,"abstract":"<p><strong>Introduction: </strong>There is an increasing prevalence of chronic kidney disease (CKD) in Malaysia; hence, identifying factors associated with the early stage of CKD is crucial for preventive measures. This study investigated the association between various factors and their interaction in a multi-ethnic Malaysian cohort.</p><p><strong>Methods: </strong>A nested case-control analysis was conducted on 3,160 eligible participants with renal profile data from The Malaysian Cohort project. CKD status was determined by estimated glomerular filtration rate using the Chronic Kidney Disease Epidemiology Collaboration equation. Multiple logistic regression analysis using the likelihood ratio method was used to identify the factors and their interaction with CKD.</p><p><strong>Results: </strong>This study suggested five factors associated with CKD: gender, ethnicity, physical activity, atherogenic plasma index (AIP), and systolic blood pressure. There was an interaction between AIP and gender, with increased odds of CKD among men with high AIP.</p><p><strong>Conclusions: </strong>As CKD is mainly asymptomatic until it is in the later stages, these five factors serve as valuable tools for predicting CKD and enhancing the identification of at-risk individuals, particularly among men with elevated AIP. Future studies should focus on using these factors, especially in preventing new CKD cases and their progression.</p>","PeriodicalId":17813,"journal":{"name":"Kidney & blood pressure research","volume":" ","pages":"210-220"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468274","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":"Differentiating the Whole Urine and Urine Supernatant Protein Profiles of Preterm Infants via Urine Proteomics.","authors":"Lulu Zhang, Xueyan Wang, Dan Wu, Jun Zheng, Fangrui Ding","doi":"10.1159/000543714","DOIUrl":"10.1159/000543714","url":null,"abstract":"<p><strong>Introduction: </strong>Urine proteomics plays an important role in the screening of biomarkers for infant diseases. However, there is no unified standard for the selection of urine samples for urine proteomics. It is also unclear whether there are differences in proteomics between whole urine and urine supernatant. Therefore, the urine of preterm infants was used as the research sample to explore the differences in protein profiles between the whole urine and urine supernatant of preterm infants by proteomics.</p><p><strong>Methods: </strong>Urine samples were collected from five preterm infants with a gestational age of <28 weeks at their corrected gestational age of 37 weeks. Each preterm urine was divided into whole urine and supernatant. Urine protein was extracted and analyzed by liquid chromatography-tandem mass spectrometry.</p><p><strong>Results: </strong>The two groups of urine samples did not show significant clustering in the principal component analysis. A total of 2,607 proteins were detected in the two groups of urine samples, of which 82 proteins were unique to whole urine samples and 56 proteins were unique to urine supernatant samples. The molecular functions, the main biological processes, and subcellular localization of the differential proteins were analyzed. In other neonatal-related diseases, there was no significant difference in protein enrichment between whole urine and urine supernatant.</p><p><strong>Conclusions: </strong>This study analyzed the differences between whole urine and urine supernatant in urine proteomics of preterm infants. In neonatal-related diseases, there is no significant difference in urinary protein biomarkers between whole urine and urine supernatant.</p>","PeriodicalId":17813,"journal":{"name":"Kidney & blood pressure research","volume":" ","pages":"198-209"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143408770","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":"Disease-Modifying Antirheumatic Drug Therapy of Inflammatory Rheumatic Diseases in End-Stage Kidney Disease.","authors":"Daniel Patschan, Igor Matyukhin, Friedrich Stasche, Oliver Ritter, Susann Patschan","doi":"10.1159/000544810","DOIUrl":"10.1159/000544810","url":null,"abstract":"<p><strong>Background: </strong>Inflammatory rheumatic diseases regularly require the use of disease-modifying antirheumatic drugs (DMARDs). The use of DMARDs in patients with end-stage chronic kidney disease (CKD stage 5D) is particularly challenging due to the lack of systematic studies available for this patient population. This narrative review aimed to address the aspect of DMARD therapy in CKD 5D.</p><p><strong>Summary: </strong>The current article is a narrative review. References were sourced from the following databases: PubMed, Web of Science, Cochrane Library, and Scopus. The search period spanned from 1975 to 2024. There is a notable lack of systematic data on this topic. The available literature was reviewed to provide insights, despite the limited availability of comprehensive studies. Individuals with terminal kidney disease can presumably be safely treated with leflunomide, mycophenolic acid, sulfasalazine, azathioprine, belimumab, and anti-CD20. For all other substances, there are either significant restrictions, insufficient data, or inadequate experience.</p><p><strong>Key messages: </strong>Some conventional and biologic DMARDs are available for the management of inflammatory rheumatic diseases in CKD stage 5D. It is essential to consider the limitations on kidney function, as they can significantly affect the pharmacokinetics of medications. Consequently, slightly more frequent checkups are recommended when using the defined preparations.</p>","PeriodicalId":17813,"journal":{"name":"Kidney & blood pressure research","volume":" ","pages":"249-258"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573352","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":"Shikonin Inhibits Endoplasmic Reticulum Stress-Induced Apoptosis to Attenuate Renal Ischemia/Reperfusion Injury by Activating the Sirt1/Nrf2/HO-1 Pathway.","authors":"Qian Huang, Zilu Shi, Dandan Zheng, Huiqin Chen, Qiuhong Huang","doi":"10.1159/000542417","DOIUrl":"10.1159/000542417","url":null,"abstract":"<p><strong>Introduction: </strong>Shikonin is the major bioactive compound abundant in Lithospermum erythrorhizon and possesses diverse pharmacological properties. This study aimed to examine shikonin roles in experimental renal ischemia/reperfusion (I/R) injury.</p><p><strong>Methods: </strong>Renal tissues and blood were collected from experimental renal I/R injury models. Kidney functions, structural injuries, and cellular death were assessed. Markers of endoplasmic reticulum (ER) stress were evaluated by RT-qPCR and Western blotting. The effect of shikonin on Sirt1/Nrf2/HO-1 signaling was detected by Western blotting and immunofluorescence staining. HK-2 cells that underwent hypoxia/reoxygenation (H/R) process were used to perform CCK-8 and flow cytometry.</p><p><strong>Results: </strong>For in vivo analysis, renal dysfunctions and tissue structural damage induced by I/R were relieved by shikonin. Additionally, shikonin alleviated ER stress-induced apoptosis in I/R mice. For in vitro analysis, shikonin inhibited ER stress-stimulated apoptosis of H/R cells. Mechanistically, shikonin activated Sirt1/Nrf2/HO-1 signaling post-I/R, and inhibition of Sirt1 limited shikonin-mediated protection against ER stress-stimulated apoptosis in both animal and cellular models.</p><p><strong>Conclusion: </strong>By activating Sirt1/Nrf2/HO-1 signaling, shikonin inhibits apoptosis caused by ER stress and relieves renal I/R injury.</p>","PeriodicalId":17813,"journal":{"name":"Kidney & blood pressure research","volume":" ","pages":"131-146"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11844683/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813690","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":"Exploring the Multifaceted Role of WT1 in Kidney Development and Disease.","authors":"Jing Lu, Xiaohu Zhang, Hanmin Liu, Yang Liu","doi":"10.1159/000544025","DOIUrl":"10.1159/000544025","url":null,"abstract":"<p><strong>Background: </strong>The Wilms' tumor suppressor gene (WT1) is a critical regulator in kidney development and disease pathogenesis. With the identification of at least 36 isoforms in mammals, each potentially playing distinct roles, WT1's complexity is becoming increasingly apparent. The -KTS and +KTS isoforms, in particular, have been implicated in DNA and RNA regulation, respectively. This review consolidates recent insights into WT1's multifaceted role in renal morphogenesis and its implications in kidney diseases.</p><p><strong>Summary: </strong>Our review highlights WT1's expression during embryonic kidney development and its maintenance in postnatal kidney function. We discuss the association of WT1 mutations with genetic nephropathies like Denys-Drash and Frasier syndromes, emphasizing its genetic significance. Additionally, we explore the implications of WT1 expression alterations in glomerular diseases, such as IgA nephropathy and lupus nephritis, where its role extends beyond a mere biomarker to a potential therapeutic target.</p><p><strong>Key messages: </strong>The WT1 gene and its protein products are central to understanding kidney morphogenesis and the molecular basis of renal disorders. As our understanding of WT1's regulatory mechanisms expands, so does the potential for developing targeted therapies for kidney diseases. This review calls for further research to elucidate the precise functions of WT1 isoforms and to explore the upstream regulators of WT1 that could offer novel treatment strategies for kidney pathologies. The significance of WT1 in intricate signaling pathways governing kidney health and disease is underscored, highlighting the need for continued investigation into this pivotal gene.</p>","PeriodicalId":17813,"journal":{"name":"Kidney & blood pressure research","volume":" ","pages":"176-188"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143391239","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":"Genetic Diagnosis of Hyperoxaluria Type 3 Patients Using Haplotype Analysis.","authors":"Sadegh Tavakoli Ataabadi, Leila Behi, Marzieh Mojbafan, Nakysa Hooman","doi":"10.1159/000544093","DOIUrl":"10.1159/000544093","url":null,"abstract":"<p><strong>Introduction: </strong>An autosomal recessive hereditary disorder of the glyoxylate metabolism, primary hyperoxaluria (PH), causes an excess of oxalate to be formed in the body. Three genes have so far been found to cause the three forms of PH (I, II, and III). Overall, 10% of PH patients are type III and are caused by a mutation in the HOGA1 gene. Pathogenic variants responsible for the disease have been identified in several populations. In the present study, we are going to genetically analyze 14 Iranian patients who are suspicious of being affected with PH III.</p><p><strong>Methods: </strong>We studied 14 patients from 11 unrelated Iranian families with a clinical diagnosis of hyperoxaluria disease. The kidney stone was detected in all patients. All of them had high levels of creatinine and oxalate in their urine. Sanger sequencing of the HOGA1 gene was performed in all 14 patients. Next-generation sequencing has also been performed on 1 patient who did not have any causative variants in the HOGA1 gene.</p><p><strong>Results: </strong>We identified one homozygous likely pathogenic missense variant in the HOGA1 (c.266G>A).</p><p><strong>Conclusion: </strong>This is the first report of analyzing the HOGA1 gene in Iranian patients suspicious of being affected with hyperoxaluria type III, which can expand our knowledge about this gene and its mutations.</p>","PeriodicalId":17813,"journal":{"name":"Kidney & blood pressure research","volume":" ","pages":"189-197"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143399519","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}