Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia最新文献

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Gout prevalence and management strategies among patients with moderate to advanced chronic kidney disease. 中晚期慢性肾病患者痛风患病率及管理策略
IF 1.6
Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia Pub Date : 2026-04-17 eCollection Date: 2026-01-01 DOI: 10.1590/2175-8239-JBN-2025-0282en
Dhajanae Sylvertooth, Brian Bieber, Roberto Pecoits-Filho, Brad Marder, Brian LaMoreaux, Angelo Karaboyas
{"title":"Gout prevalence and management strategies among patients with moderate to advanced chronic kidney disease.","authors":"Dhajanae Sylvertooth, Brian Bieber, Roberto Pecoits-Filho, Brad Marder, Brian LaMoreaux, Angelo Karaboyas","doi":"10.1590/2175-8239-JBN-2025-0282en","DOIUrl":"10.1590/2175-8239-JBN-2025-0282en","url":null,"abstract":"<p><strong>Introduction: </strong>Gout commonly coexists with chronic kidney disease (CKD), with prevalence increasing as kidney function declines. Despite its burden, data on monitoring and treatment practices in CKD are limited. This study describes the prevalence, characteristics, and management of gout in non-dialysis CKD patients.</p><p><strong>Methods: </strong>Cross-sectional data were analyzed from 3,524 stages 3a-5 CKD patients in the Chronic Kidney Disease Outcomes and Practice Patterns Study (CKDopps) in Brazil (n = 942) and the United States (n = 2,582) at enrollment (2013-2022). History of gout was extracted from medical records.</p><p><strong>Results: </strong>Gout prevalence was 18.7% overall-20.5% in the US and 13.9% in Brazil-higher in stages 4-5 vs. 3a-3b CKD. Allopurinol was most used (Brazil 75%; US 62%). Colchicine (13%) and febuxostat (8%) were reported in the US but rarely in Brazil. Uric acid was measured in 70% of Brazilian vs. 33% of US gout patients.</p><p><strong>Conclusions: </strong>Gout is common in CKD, with notable cross-country differences in monitoring and treatment.</p>","PeriodicalId":14724,"journal":{"name":"Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia","volume":"48 2","pages":"e20250282"},"PeriodicalIF":1.6,"publicationDate":"2026-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13120825/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147716840","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Analysis of sarcopenia parameters and falls in hemodialysis patients: no association found in a cross-sectional study. 血透析患者肌肉减少症参数与跌倒的分析:横断面研究中未发现关联。
IF 1.6
João Vitor Oblanca, Thaís Larissa Reichert, César Faúndez-Casanova, Kauana Borges Marchini, Fábio Torres, Mariana Ardengue, Sergio Seiji Yamada, Ademar Avelar
{"title":"Analysis of sarcopenia parameters and falls in hemodialysis patients: no association found in a cross-sectional study.","authors":"João Vitor Oblanca, Thaís Larissa Reichert, César Faúndez-Casanova, Kauana Borges Marchini, Fábio Torres, Mariana Ardengue, Sergio Seiji Yamada, Ademar Avelar","doi":"10.1590/2175-8239-JBN-2025-0226en","DOIUrl":"10.1590/2175-8239-JBN-2025-0226en","url":null,"abstract":"<p><strong>Introduction: </strong>Sarcopenia has been associated with an increased risk of falls in diverse populations. Patients with end-stage renal disease (ESRD) undergoing hemodialysis (HD) have an increased prevalence of muscle weakness and wasting. The aim of this study was to investigate the association between parameters of sarcopenia and a history of falls in ESRD patients on HD.</p><p><strong>Methods: </strong>A cross-sectional study was utilized to assess 111 participants with ESRD on HD (54 ± 15.6 years; 59.5% men). Sarcopenia was defined by low muscle strength (handgrip dynamometry) and low muscle mass (bioelectrical impedance). History of falls was self-reported. Bivariate analyses were performed, and a multivariate logistic regression model was used to assess the association between sarcopenia and falls while adjusting for confounders.</p><p><strong>Results: </strong>In the multivariate analysis, sarcopenia was not independently associated with a history of falls (OR = 1.73; p = 0.40). However, advanced age (OR = 1.04 per year; p = 0.03) and a history of stroke (OR = 6.07; p = 0.05) were identified as significant independent predictors of falls.</p><p><strong>Conclusion: </strong>History of falls was not independently associated with muscle strength or mass in ESRD patients on HD. Future longitudinal studies are needed to investigate other factors associated with this outcome.</p>","PeriodicalId":14724,"journal":{"name":"Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia","volume":"48 2","pages":"e20250226"},"PeriodicalIF":1.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12904644/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146194502","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Declaration of Santo Domingo: commitment to improve education, regulations, public policies, and access to peritoneal dialysis in Latin America. 圣多明各宣言:承诺改善拉丁美洲的教育、法规、公共政策和获得腹膜透析。
IF 1.6
Gustavo L Moretta-Pedernera, Alfonso Ramos-Sánchez, Laura Cortés-Sanabria, Rosana Chaúd-Covarrubias, Guillermo Álvarez-Estévez, Mauricio Uribe, Vicente Sánchez-Polo, José Carolino Divino-Filho, Natalia M Wasmuth-Troche, Ledisbeth Batista-Buitrago, Marta Avellán-Boza, Rodrigo Orozco-Bass, Héctor Martínez-Eusebio, René Soto-Velásquez, María Marina Papaginovic-Leiva, Martín Gómez-Luján, Sandra Rodríguez-Manzano, José Manuel Rodríguez-Chagolla, Daniel Alejandro Molina-Comboni, Yanet Álvarez-González, Pedro Javier Dávila Crespo, Erwin Iván Campos, José A Moura-Neto, Magda Hinojosa, Lourdes Carolina Vásquez-Jiménez, Gloria G García-Villalobos, Gabriela González, Eliana Dina-Batle, José R Álvarez-Novoa
{"title":"Declaration of Santo Domingo: commitment to improve education, regulations, public policies, and access to peritoneal dialysis in Latin America.","authors":"Gustavo L Moretta-Pedernera, Alfonso Ramos-Sánchez, Laura Cortés-Sanabria, Rosana Chaúd-Covarrubias, Guillermo Álvarez-Estévez, Mauricio Uribe, Vicente Sánchez-Polo, José Carolino Divino-Filho, Natalia M Wasmuth-Troche, Ledisbeth Batista-Buitrago, Marta Avellán-Boza, Rodrigo Orozco-Bass, Héctor Martínez-Eusebio, René Soto-Velásquez, María Marina Papaginovic-Leiva, Martín Gómez-Luján, Sandra Rodríguez-Manzano, José Manuel Rodríguez-Chagolla, Daniel Alejandro Molina-Comboni, Yanet Álvarez-González, Pedro Javier Dávila Crespo, Erwin Iván Campos, José A Moura-Neto, Magda Hinojosa, Lourdes Carolina Vásquez-Jiménez, Gloria G García-Villalobos, Gabriela González, Eliana Dina-Batle, José R Álvarez-Novoa","doi":"10.1590/2175-8239-JBN-2026-SA01en","DOIUrl":"10.1590/2175-8239-JBN-2026-SA01en","url":null,"abstract":"<p><p>The Santo Domingo Declaration highlights the challenges and opportunities to improve education, regulations, public policies, and access to peritoneal dialysis (PD) in Latin America. It emphasizes the need to address structural inequalities in training and care, establishing minimum competency standards and strengthening health infrastructure. Inspired by initiatives such as the Standardised Outcomes in Nephrology-Peritoneal Dialysis (SONG-PD) and the European Specialty Examination in Nephrology (ESENeph), the declaration underlines the importance of harmonizing nephrologist training to promote standardised and internationally aligned competencies. Additionally, it outlines strategies to prioritize patients' quality of life, ensure accessibility and economic sustainability, and foster the implementation of satellite units and innovative technologies. Finally, it calls for intersectoral collaboration to ensure inclusive and equitable healthcare in the region.</p>","PeriodicalId":14724,"journal":{"name":"Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia","volume":"48 2","pages":"e2026SA01"},"PeriodicalIF":1.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13078817/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147690219","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
C3 Glomerulopathy: recent advances and an update on management. C3肾小球病变:最近的进展和治疗的更新。
IF 1.6
Lilian Monteiro Pereira Palma, Maria Izabel Neves de Holanda Barbosa, Sanjeev Sethi
{"title":"C3 Glomerulopathy: recent advances and an update on management.","authors":"Lilian Monteiro Pereira Palma, Maria Izabel Neves de Holanda Barbosa, Sanjeev Sethi","doi":"10.1590/2175-8239-JBN-2025-0306en","DOIUrl":"10.1590/2175-8239-JBN-2025-0306en","url":null,"abstract":"<p><p>C3 glomerulopathy (C3G) is a clinicopathologic entity characterized by glomerular inflammation with dominant staining for C3 on immunofluorescence microscopy. Electron microscopy is used to determine the location and type of deposits, which further divides C3G into C3 glomerulonephritis (C3GN) and dense deposit disease (DDD) based on ultrastructural findings. Both entities are progressive, with about 60% of patients progressing to end-stage kidney disease (ESKD) within 10 years. Recurrence after kidney transplantation occurs in up to 60% of C3G cases. New knowledge about the pathophysiology-different patterns of injury, histopathological scoring, apolipoprotein E staining, dysregulation of the alternative complement pathway (including both autoantibodies to and mutations in complement regulatory factors), as well as proteomic analyses-has allowed a better understanding of different pathophysiological profiles and clinical presentations, enabling individualized treatment. The role of nephroprotection is well established in C3G, as it is for other glomerular diseases. Non-specific treatment with corticosteroids and immunosuppression is associated with a variable response rate. However, more recently, results from clinical trials with proximal complement inhibitors have shown significant improvement in proteinuria and attenuation of the decline in estimated glomerular filtration rate (eGFR). Based on the results of these trials involving drugs that specifically target the upstream complement pathways, including the alternative pathway, new treatment options have recently become available for patients with C3G.</p>","PeriodicalId":14724,"journal":{"name":"Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia","volume":"48 2","pages":"e20250306"},"PeriodicalIF":1.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13263063/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148239300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Artificial intelligence computed tomography models for the discrimination of Wilms versus non-Wilms tumors: systematic review and meta-analysis. 人工智能计算机断层扫描模型鉴别肾母细胞瘤和非肾母细胞瘤:系统回顾和荟萃分析。
IF 1.6
Burak Ardicli
{"title":"Artificial intelligence computed tomography models for the discrimination of Wilms versus non-Wilms tumors: systematic review and meta-analysis.","authors":"Burak Ardicli","doi":"10.1590/2175-8239-JBN-2025-0325en","DOIUrl":"10.1590/2175-8239-JBN-2025-0325en","url":null,"abstract":"","PeriodicalId":14724,"journal":{"name":"Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia","volume":"48 2","pages":"e20250325"},"PeriodicalIF":1.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13004157/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147485880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploring the retention of soluble Fas protein in kidney dysfunction and its link to inflammation: a systematic review and meta-analysis. 探索可溶性Fas蛋白在肾功能障碍中的保留及其与炎症的联系:一项系统综述和荟萃分析。
IF 1.6
Beatriz Moreira Silva, Giovana Irikura Cardoso, Priscila Giusti Lázaro, Bárbara Formaggio Domingues, Isabele Pardo, Carolina Sponton, Miguel Angelo Goes
{"title":"Exploring the retention of soluble Fas protein in kidney dysfunction and its link to inflammation: a systematic review and meta-analysis.","authors":"Beatriz Moreira Silva, Giovana Irikura Cardoso, Priscila Giusti Lázaro, Bárbara Formaggio Domingues, Isabele Pardo, Carolina Sponton, Miguel Angelo Goes","doi":"10.1590/2175-8239-JBN-2025-0146en","DOIUrl":"10.1590/2175-8239-JBN-2025-0146en","url":null,"abstract":"<p><strong>Introduction: </strong>According to recent studies, serum soluble Fas (sFas) levels are related to inflammatory markers, cardiovascular disease, anemia, and kidney dysfunction. The present study analyzes the association between sFas, inflammatory markers, and kidney dysfunction.</p><p><strong>Methods: </strong>This meta-analysis was conducted using the R program, along with a systematic review that employed the Newcastle-Ottawa Scale and the Joanna Briggs Institute guidelines to assess risk of bias in observational studies. The PubMed, MEDLINE, and SciELO electronic databases were used. Search filters were applied to include all articles in English. Heterogeneity was assessed using Cochran's Q test, τ2 (tau-squared), and the I2 statistic, and a random-effects model (DerSimonian-Laird method) was applied due to the presence of moderate heterogeneity among the included cohort studies.</p><p><strong>Results: </strong>The systematic review and meta-analysis comprised 24 articles, which presented a significant risk of bias. Among the selected cohort studies, 1,449 patients had kidney dysfunction. Of these, 512 (57%) were men. The mean serum creatinine, IL-6, C-reactive protein, and sFas values (8.635 pg/mL and 3.206 pg/mL) were higher in patients with kidney dysfunction. There were also positive correlations between serum sFas, IL-6 levels, and creatinine. These findings suggest a potential role of sFas in inflammation and the progression of kidney diseases.</p><p><strong>Conclusion: </strong>Our study demonstrated that sFas is a uremic retention solute associated with inflammation. Further research is crucial to confirm sFas as a biomarker or its role as a uremic toxin.</p>","PeriodicalId":14724,"journal":{"name":"Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia","volume":"48 2","pages":"e20250146"},"PeriodicalIF":1.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12991439/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147468079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Erratum: Innovation in daily hemodialysis: high-flux vs. hemodiafiltration. 勘误:每日血液透析的创新:高通量与血液滤过。
IF 1.6
{"title":"Erratum: Innovation in daily hemodialysis: high-flux vs. hemodiafiltration.","authors":"","doi":"10.1590/2175-8239-JBN-2026-E003ener","DOIUrl":"10.1590/2175-8239-JBN-2026-E003ener","url":null,"abstract":"<p><p>[This corrects the article doi: 10.1590/2175-8239-JBN-2026-E003en] [This corrects the article doi: 10.1590/2175-8239-JBN-2026-E003pt].</p>","PeriodicalId":14724,"journal":{"name":"Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia","volume":"48 2","pages":"e2026E003er"},"PeriodicalIF":1.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13126810/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771861","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Acute kidney injury and COVID-19 in Brazil: disparities in outcomes between public and private hospitals in Rio de Janeiro reveal issues of equity in intensive care. 巴西的急性肾损伤和COVID-19:里约热内卢公立和私立医院之间的结果差异揭示了重症监护的公平性问题。
IF 1.6
Lorruan Alves Dos Santos, Emmanuel de Almeida Burdmann, Luis Yu
{"title":"Acute kidney injury and COVID-19 in Brazil: disparities in outcomes between public and private hospitals in Rio de Janeiro reveal issues of equity in intensive care.","authors":"Lorruan Alves Dos Santos, Emmanuel de Almeida Burdmann, Luis Yu","doi":"10.1590/2175-8239-JBN-2026-E007en","DOIUrl":"10.1590/2175-8239-JBN-2026-E007en","url":null,"abstract":"","PeriodicalId":14724,"journal":{"name":"Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia","volume":"48 2","pages":"e2026E007"},"PeriodicalIF":1.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13233051/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148156385","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
IL-18 on the rise: tracking inflammatory drift in hemodialysis patients - a pilot study. IL-18在上升:跟踪血透患者的炎症漂移-一项初步研究。
IF 1.6
Jessyca Sousa de Brito, Hugo de Luca Corrêa, Thiago Santos Rosa, Aline Figueiredo, Carlos Eduardo H V P F Braga, Denise Mafra
{"title":"IL-18 on the rise: tracking inflammatory drift in hemodialysis patients - a pilot study.","authors":"Jessyca Sousa de Brito, Hugo de Luca Corrêa, Thiago Santos Rosa, Aline Figueiredo, Carlos Eduardo H V P F Braga, Denise Mafra","doi":"10.1590/2175-8239-JBN-2025-0310en","DOIUrl":"10.1590/2175-8239-JBN-2025-0310en","url":null,"abstract":"<p><strong>Introduction: </strong>Interleukin-18 (IL-18) is a pro-inflammatory cytokine associated with inflammaging and cellular senescence in chronic kidney disease (CKD).</p><p><strong>Objective: </strong>To evaluate longitudinal changes in plasma IL-18 levels in incident hemodialysis (HD) patients.</p><p><strong>Methods: </strong>An observational longitudinal study was conducted, with blood and anthropometric data collected at baseline, 6, and 12 months. IL-18 was measured by ELISA, and biochemical parameters were measured using Bioclin® kits.</p><p><strong>Results: </strong>Twenty-four patients (61.4 ± 3.5 years) were enrolled; 10 and 5 completed the 6- and 12-month assessments, respectively. IL-18 levels increased significantly at 6 months (p = 0.04) and at 12 months (p = 0.01) versus baseline and correlated positively with creatinine (r = 0.893; p = 0.04) and urea (r = 0.823; p = 0.05).</p><p><strong>Conclusion: </strong>In this pilot study with incident HD patients, plasma IL-18 increased over one year of treatment and was associated with uremia-related markers.</p>","PeriodicalId":14724,"journal":{"name":"Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia","volume":"48 2","pages":"e20250310"},"PeriodicalIF":1.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13034619/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147574144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Nephrocalcinosis: unveiling renal tubulopathies in the genomic era. 肾钙质沉着症:揭示基因组时代的肾小管病变。
IF 1.6
Elenice Andrade Milhomem Ayoub, Maria Helena Vaisbich, Daniel Ribeiro Rocha, Bruno Pellozo Cerqueira, Ana Cristina Carvalho de Matos, Igor Gouveia Pietrobom, Ita Pfeferman Heilberg
{"title":"Nephrocalcinosis: unveiling renal tubulopathies in the genomic era.","authors":"Elenice Andrade Milhomem Ayoub, Maria Helena Vaisbich, Daniel Ribeiro Rocha, Bruno Pellozo Cerqueira, Ana Cristina Carvalho de Matos, Igor Gouveia Pietrobom, Ita Pfeferman Heilberg","doi":"10.1590/2175-8239-JBN-2025-0225en","DOIUrl":"10.1590/2175-8239-JBN-2025-0225en","url":null,"abstract":"<p><strong>Introduction: </strong>The diagnosis of nephrocalcinosis (NC) is challenging due to difficulties in radiologic detection, clinical heterogeneity, and its broad etiological spectrum that includes both genetic and non-genetic causes. This study aimed to uncover, in a pioneering manner, the distinct NC etiologies in a Brazilian cohort according to age of onset.</p><p><strong>Methods: </strong>This retrospective cross-sectional study was based on 96 medical records of outpatients (66 adults and 30 children) with NC, who had followed a comprehensive investigation.</p><p><strong>Results: </strong>Distal renal tubular acidosis was the leading cause of NC in both children (43.3%) and adults (22.7%), followed by other tubulopathies mostly in children (36.7%), and primary hyperparathyroidism in adults (19.7%). Pediatric patients exhibited more electrolyte disorders (47%), failure to thrive (50%), and sensorineural hearing loss (23%) than adults. Conversely, adults presented more associated nephrolithiasis (73%), low back pain (42%), and lower estimated glomerular filtration rate than children (85 versus 106 mL/min/1.73m2). According to phenotype, genetic suspicion had been raised in 96.7% of children and 57.6% of adults. Nevertheless, the availability of genetic tests was low in the whole cohort.</p><p><strong>Conclusion: </strong>This study represents a novel contribution to the national scientific landscape, revealing a limited access to genetic tests for patients with nephrocalcinosis, likely due to cost and availability constraints in the public healthcare system, and showed that a clinically oriented laboratory protocol may provide more precise indications. Notably, a phenotype suggestive of monogenic disease among 57.6% of adults with NC justifies the need for more frequent genetic investigations in this group.</p>","PeriodicalId":14724,"journal":{"name":"Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia","volume":"48 2","pages":"e20250225"},"PeriodicalIF":1.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12857816/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146085871","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","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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