American Journal of Kidney Diseases最新文献

{"title":"Monoallelic IFT140 Variants Causing Childhood-Onset Autosomal Dominant Polycystic Kidney Disease.","authors":"Joshua D Griffiths,Grace Ehidiamhen,Sergio Camilo Lopez-Garcia,Rachel Hubbard,Jackie Cook,Albert C M Ong","doi":"10.1053/j.ajkd.2025.08.006","DOIUrl":"https://doi.org/10.1053/j.ajkd.2025.08.006","url":null,"abstract":"IFT140 is a component of the intraflagellar transport-complex A involved in retrograde ciliary trafficking of proteins into primary cilia. Monoallelic IFT140 variants have been identified as an important cause of adult-onset autosomal dominant polycystic kidney disease (ADPKD), accounting for ∼2% of prevalent cases. Patients with ADPKD-IFT140 usually present in later life with small numbers of large cysts and rarely develop kidney failure. Here, we report 3 genetically resolved cases of ADPKD-IFT140 diagnosed in childhood or infancy from 3 unrelated pedigrees with ages at presentation ranging from in utero to 14 years. Each pedigree had a different familial IFT140 variant, with no evidence of a second ADPKD gene variant on whole genome sequencing. All 3 children had normal kidney function and normal blood pressure, although 1 child presented initially with a high cyst burden in utero and had impaired function on a DMSA scan. Despite the negative family history, cascade screening of first-degree relatives revealed previously undiagnosed ADPKD with features typical of adult-onset ADPKD-IFT140. Our findings highlight the need to consider IFT140 as a potential cause of childhood early-onset ADPKD and expand the phenotypic spectrum of ADPKD-IFT140.","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":"18 1","pages":""},"PeriodicalIF":13.2,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145089840","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Perceptions About Influenza and COVID-19 Vaccines Among People With CKD: Findings From the Chronic Renal Insufficiency Cohort (CRIC) Study.","authors":"Guangchen Zou,Bernard G Jaar,James P Lash,Jing Chen,Jeanne B Charleston,Arksarapuk Jittirat,Dipal Patel,Julia Brown,Jiang He,Denise Cornish-Zirker,Hernan Rincon-Choles,Lawrence J Appel,Deidra C Crews,Kristin A Riekert,David W Dowdy,Kunihiro Matsushita,Junichi Ishigami, ","doi":"10.1053/j.ajkd.2025.07.008","DOIUrl":"https://doi.org/10.1053/j.ajkd.2025.07.008","url":null,"abstract":"RATIONALE & OBJECTIVEVaccine uptake among individuals with chronic kidney disease (CKD) is suboptimal. Understanding the perceptions associated with vaccine hesitancy can help inform programs aimed at addressing these concerns.STUDY DESIGNCross-sectional survey.SETTING & PARTICIPANTSA subset of participants from the Chronic Renal Insufficiency Cohort (CRIC) Study, recruited from three study sites.EXPOSURESParticipants' perceptions about influenza and COVID-19 infection risks, benefits and harms of vaccines, vaccine skepticism, access barriers, and cues to action, according to the Health Belief Model.OUTCOMEInfluenza and COVID-19 vaccine hesitancy, defined as being uncertain about or not planning to receive a future dose of these vaccines.ANALYTIC APPROACHResponses were measured on a 5-point Likert scale (1 = strongly agree, 2 = agree, 3 = neutral, 4 = disagree, 5 = strongly disagree). Linear regression models were used to analyze differences in mean Likert scale scores between participants with and without vaccine hesitancy.RESULTSBetween July 2022 and June 2023, 278 CRIC participants completed the survey, of whom 47 (16.9%) and 46 (16.8%) had influenza and COVID-19 vaccine hesitancy, respectively. Linear regression models identified key perceptions associated with vaccine hesitancy, including perceived harms of the vaccines (e.g., the vaccine causes influenza; ΔMean Likert scale 1.25 [95% CI, 0.96 to 1.55]) and vaccine skepticism (e.g., benefits of the influenza vaccine are exaggerated; 0.96 [95% CI, 0.65 to 1.26]). Perceived benefits were negatively associated with vaccine hesitancy (e.g., influenza vaccines prevent serious illness; -0.93 [-1.23 to -0.62]). More than 40% perceived that they were not at risk of influenza, but this perception was not associated with vaccine hesitancy (0.02 [-0.35 to 0.40]). These findings were overall consistent for COVID-19, although vaccine skepticism was more prevalent and more strongly associated with vaccine hesitancy.LIMITATIONSThe study population consisted of individuals with CKD who were enrolled in a cohort study and voluntarily responded to the survey.CONCLUSIONSAmong individuals with CKD, perceptions of vaccine harms and vaccine skepticism were significant factors contributing to vaccine hesitancy. Improved dissemination of accurate vaccine information through tailored patient education initiatives may enhance vaccination uptake in this population.","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":"7 1","pages":""},"PeriodicalIF":13.2,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145089813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Targeting Inflammation in CKD.","authors":"Kristen L Nowak, Michel Chonchol","doi":"10.1053/j.ajkd.2025.06.019","DOIUrl":"https://doi.org/10.1053/j.ajkd.2025.06.019","url":null,"abstract":"<p><p>Chronic systemic inflammation, triggered by innate immune system activation, is a key driver of both chronic kidney disease and associated atherosclerosis and cardiovascular disease. Directly targeting inflammatory pathways has emerged over the past fifteen years as a novel approach under active investigation to reduce atherosclerotic cardiovascular disease risk in patients with chronic kidney disease and to slow kidney disease progression. Recent and ongoing clinical trials in patients with kidney disease include targeting interleukin-1 and the interleukin-1 receptor, interleukin-6 and the interleukin-6 receptor, the NLRP3 inflammasome, nuclear factor erythroid 2-related factor 2, and senolytics. As we await results of ongoing phase 3 clinical trials, numerous challenges and considerations remain for both research and clinical implementation of anti-cytokine therapies.</p>","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":" ","pages":""},"PeriodicalIF":8.2,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145085006","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Contraceptive Use and Reproductive Health in Women With CKD: A Qualitative Study Of Nephrologists in the United States.","authors":"Nedas Semaska,Rachael Nolan,Silvi Shah","doi":"10.1053/j.ajkd.2025.07.007","DOIUrl":"https://doi.org/10.1053/j.ajkd.2025.07.007","url":null,"abstract":"RATIONALE & OBJECTIVEWomen with chronic kidney disease (CKD) face elevated risks during pregnancy, yet contraceptive use and reproductive health counseling remain low. Nephrologists, who often maintain longitudinal relationships with patients, may be well-positioned to engage in these discussions. This study aimed to explore nephrologists' perspectives on contraception and reproductive health management in women with CKD.STUDY DESIGNQualitative study using semi-structured interviews.SETTING & PARTICIPANTSInterviews were conducted with 25 adult general and transplant nephrologists from both academic and private practice settings across the United States.ANALYTICAL APPROACHVirtual interviews were recorded, transcribed, and analyzed using thematic analysis until thematic saturation was achieved. A grounded theory approach guided coding and identification of key themes related to provider experiences and perspectives.RESULTSThe following four themes and their respective subthemes were identified: (1) physician discomfort regarding discussion of contraception and reproductive health (reliance on patient initiation, hesitation with counseling, uncertainty about scope of practice); (2) insufficient training and inadequate guidelines regarding contraception and reproductive health (paucity of formal guidelines, limited exposure, reliance on self-education); (3) lack of interdisciplinary coordination regarding contraceptive use and reproductive health (the patient as an intermediary, fragmentation of care); (4) need for holistic and patient-centered care (comprehensive and sustained approach, shared decision-making).LIMITATIONSGeneralizability may be limited due to participants being predominantly early-career academic nephrologists.CONCLUSIONSKey barriers to contraceptive use and management of reproductive health for women with CKD include provider discomfort due to limited exposure and training, lack of clear guidelines, and fragmented care. Despite these challenges, providers recognize the importance of holistic, patient-centered care. These findings highlight the need to improve contraceptive counseling to support appropriate contraceptive use and shared decision-making for the reproductive health of patients with kidney disease.","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":"78 1","pages":""},"PeriodicalIF":13.2,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145083579","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Quantifying APOL1, Human Leukocyte Antigen, and Other Genetic Contributions to Unexplained Kidney Failure.","authors":"Omid Sadeghi-Alavijeh,Melanie M Y Chan,Konstantinos Tzoumkas,Gabriel T Doctor,Daniel P Gale","doi":"10.1053/j.ajkd.2025.07.005","DOIUrl":"https://doi.org/10.1053/j.ajkd.2025.07.005","url":null,"abstract":"RATIONALE & OBJECTIVEUnexplained kidney failure (uKF) affects 15% of individuals needing kidney replacement therapy. The lack of a clear diagnosis creates uncertainty about recurrence, familial risk, and trial eligibility. This study sought to identify genetic variants underlying uKF.STUDY DESIGNGenomic analyses were conducted using whole genome sequencing (WGS) that were reviewed by a multidisciplinary team who identified candidate pathogenic variants. A case-control study was implemented for single and structural variants to perform gene-based and polygenic risk score association testing.SETTING & PARTICIPANTSThe study recruited 218 patients with uKF onset before age 50 from the UK's 100,000 Genomes Project. Association analysis was performed in 180 uKF cases who remained unsolved after clinical analysis and constituted the non-monogenic uKF cohort (NM-uKF). 26,373 controls were derived from the unaffected relatives of non-renal probands.EXPOSURESCandidate variants in 537 genes were assessed at a structural and single variant level in the 218 recruited patients as were high-risk APOL1 genotypes and polygenic risk scores for chronic kidney disease and various glomerulonephritides.OUTCOMEThe primary outcomes were establishing a genetic diagnosis and the associations between genetic findings, age, family history, and ancestry.ANALYTICAL APPROACHCandidate variants were reviewed for pathogenicity. Gene-based and structural variant analyses and high-risk APOL1 genotype assessments were performed. Polygenic risk scores and post-hoc HLA associations were also investigated.RESULTSMonogenic diagnoses were made in 38 of 218 patients (17%) using WGS via the clinical arm of the 100,000 Genomes Project. Median uKF onset was 36 years. Diagnoses were less frequent in patients aged 36 or older, irrespective of family history. Three older patients without a family history had pathogenic variants in type IV collagen genes. Among individuals with recent African ancestry, high-risk APOL1 genotypes were significantly more common in those with uKF (52% vs. 8.4% in those without uKF, P<0.001). An elevated steroid sensitive nephrotic syndrome (SSNS) polygenic risk score was observed in those with high-risk APOL1 genotypes and uKF, partly due to differences at HLA-DQB1*03:19.LIMITATIONSPotential limitations include the small sizes of subgroups and use of short-read WGS.CONCLUSIONSWGS yielded a monogenic diagnosis in 17% of patients with uKF, with no additional solved cases arising from the case-control analysis. These findings underscore APOL1's role in those with recent African ancestry and suggest a genetic architecture distinct from common chronic kidney disease.","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":"22 1","pages":""},"PeriodicalIF":13.2,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145083580","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development and Evaluation of Machine Learning Models to Predict the Risk of Major Cardiac Events and Death for People With Kidney Failure Having Non-Cardiac Surgery.","authors":"Gurpreet S Pabla,Tyrone G Harrison,Thomas Ferguson,Emir Sevinc,Reid H Whitlock,Navdeep Tangri","doi":"10.1053/j.ajkd.2025.07.006","DOIUrl":"https://doi.org/10.1053/j.ajkd.2025.07.006","url":null,"abstract":"RATIONALE & OBJECTIVEPeople with kidney failure undergoing non-cardiac surgery face an elevated risk of cardiovascular events and mortality. Existing risk prediction tools for perioperative events are either inaccurate in this population or include many variables that may complicate implementation. We developed and evaluated the performance of simplified machine-learning models for major cardiac events and mortality within 30 days after non-cardiac surgery in patients with kidney failure in Alberta and Manitoba, Canada.STUDY DESIGNData from Manitoba was split into training (70%), validation (15%), and testing (15%) sets. The training set was used for hyperparameter tuning and model training, the validation set for feature selection and evaluating model performance, and the testing set for final model performance. External evaluation was performed in a cohort from Alberta.SETTING & PARTICIPANTSWe included Manitoban adults (≥ 18 years) with kidney failure (eGFR < 15 mL/min/1.73m2 or on maintenance dialysis) undergoing non-cardiac surgery (2007-2019), with evaluation data on adults from Alberta (2005-2019).PREDICTORSVariables included sex, age, surgery type and setting, kidney failure type, chronic conditions, and preoperative laboratory values (albumin and hemoglobin).OUTCOMEComposite of acute myocardial infarction, cardiac arrest, ventricular arrhythmia, and all-cause mortality within 30 days of surgery.ANALYTICAL APPROACHModel performance was evaluated using Area Under the Receiver Operating Characteristic Curve (AUC-ROC), Area Under the Precision-Recall Curve (AUC-PR), and calibration. The final XGBoost and random forest models were externally validated using Alberta data.RESULTSAmong 4,175 participants (12,082 surgeries), 569 outcomes (5%) were observed. The parsimonious XGBoost model (8 features) showed an AUC-ROC of 0.861 and AUC-PR of 0.304, and the parsimonious random forest model (20 features) estimated an AUC-ROC of 0.863 and AUC-PR of 0.332 in the testing cohort. External validation in Alberta showed similar performance with good calibration.LIMITATIONSLack of external validation outside Canada.CONCLUSIONOur machine learning models were accurate and had improved parsimony over existing regression-based tools. Future work should test these models in other populations and compare them with regression-based models, in addition to assessing the value of these tools for informing risk-guided perioperative care.","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":"35 1","pages":""},"PeriodicalIF":13.2,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145083582","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Nephrologist's Perspective in Evaluation and Management of Localized Renal Masses: Core Curriculum 2025.","authors":"Kristen Tillquist,Sandipan Shringi,Anthony Chang,Susie L Hu","doi":"10.1053/j.ajkd.2025.05.014","DOIUrl":"https://doi.org/10.1053/j.ajkd.2025.05.014","url":null,"abstract":"The evaluation and management of renal masses, predominantly of the clear cell renal cell carcinoma subtype, have been evolving over the past several years and demanding greater attention from nephrologists. Oncologic survival of localized tumors approaches 100%, where survival is more closely tied to underlying comorbidities including chronic kidney disease (CKD). Early diagnosis and thus increasing prevalence related to incidental discovery of renal masses allows greater emphasis on nephron-sparing procedures and for residual kidney function preservation. Compared with radical nephrectomy, partial nephrectomy is associated with higher survival and greater preservation of kidney function. Ablative therapies and active surveillance are alternative options for patients with higher surgical risk. Although it is not in the purview of the nephrologist to determine the exact therapy, our role in the preservation of kidney function for these patients who have CKD risk factors or with underlying CKD is crucial for the well-being of the patient. Early nephrology partnership in a multidisciplinary approach with the treatment team including the urologist, radiologist, pathologist, and potentially the oncologist (with advanced disease) is the ideal treatment strategy for eradication of their kidney cancer while optimizing conditions for maximal kidney function preservation.","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":"62 1","pages":""},"PeriodicalIF":13.2,"publicationDate":"2025-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144995706","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Drug-Wide Association Study on Medications Associated With Cystatin C Estimated GFR.","authors":"Lesley A Inker,Sneha Mehta,Alexander R Chang,Saul Blecker,Matthew Blum,Anne-Laure Faucon,Carina Flaherty,Leora I Horwitz,Aditya Surapaneni,Jung-Im Shin,Yunwen Xu,Morgan E Grams,Juan Jesus Carrero","doi":"10.1053/j.ajkd.2025.06.018","DOIUrl":"https://doi.org/10.1053/j.ajkd.2025.06.018","url":null,"abstract":"","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":"33 1","pages":""},"PeriodicalIF":13.2,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145007126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence of the M1 Modifier p.N264K in APOL1 Among Individuals With Kidney Disease Undergoing Commercial Genetic Testing in the United States.","authors":"Ronaldo da Silva Francisco,Sumit Punj,Lisa Vincent,Nina Sanapareddy,Vivek Bhalla,Glenn M Chertow,Dianne Keen-Kim,Vivek Charu","doi":"10.1053/j.ajkd.2025.07.004","DOIUrl":"https://doi.org/10.1053/j.ajkd.2025.07.004","url":null,"abstract":"","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":"31 1","pages":""},"PeriodicalIF":13.2,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145007080","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intravenous Antihypertensive Administration for Severe Blood Pressure Elevation During Hospitalization: An Ongoing Debate.","authors":"Youyi Lu,Lianwei Yang,Jitao Wu","doi":"10.1053/j.ajkd.2025.05.016","DOIUrl":"https://doi.org/10.1053/j.ajkd.2025.05.016","url":null,"abstract":"","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":"14 1","pages":""},"PeriodicalIF":13.2,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145007079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}