Pub Date : 2024-12-01Epub Date: 2024-07-19DOI: 10.1053/j.ajkd.2024.05.012
Jesse C Ikeme, Rebecca Scherzer, Pranav S Garimella, Stein I Hallan, Ronit Katz, Michelle M Estrella, Joachim H Ix, Michael G Shlipak
{"title":"The Association of Plasma and Urine Uromodulin With Cardiovascular Disease in Persons With Hypertension and CKD.","authors":"Jesse C Ikeme, Rebecca Scherzer, Pranav S Garimella, Stein I Hallan, Ronit Katz, Michelle M Estrella, Joachim H Ix, Michael G Shlipak","doi":"10.1053/j.ajkd.2024.05.012","DOIUrl":"10.1053/j.ajkd.2024.05.012","url":null,"abstract":"","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":" ","pages":"799-802"},"PeriodicalIF":9.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141733306","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}
Pub Date : 2024-12-01Epub Date: 2024-06-06DOI: 10.1053/j.ajkd.2024.04.008
Benjamin A Goldstein, Dinushika Mohottige, Sophia Bessias, Michael P Cary
There has been a steady rise in the use of clinical decision support (CDS) tools to guide nephrology as well as general clinical care. Through guidance set by federal agencies and concerns raised by clinical investigators, there has been an equal rise in understanding whether such tools exhibit algorithmic bias leading to unfairness. This has spurred the more fundamental question of whether sensitive variables such as race should be included in CDS tools. In order to properly answer this question, it is necessary to understand how algorithmic bias arises. We break down 3 sources of bias encountered when using electronic health record data to develop CDS tools: (1) use of proxy variables, (2) observability concerns and (3) underlying heterogeneity. We discuss how answering the question of whether to include sensitive variables like race often hinges more on qualitative considerations than on quantitative analysis, dependent on the function that the sensitive variable serves. Based on our experience with our own institution's CDS governance group, we show how health system-based governance committees play a central role in guiding these difficult and important considerations. Ultimately, our goal is to foster a community practice of model development and governance teams that emphasizes consciousness about sensitive variables and prioritizes equity.
{"title":"Enhancing Clinical Decision Support in Nephrology: Addressing Algorithmic Bias Through Artificial Intelligence Governance.","authors":"Benjamin A Goldstein, Dinushika Mohottige, Sophia Bessias, Michael P Cary","doi":"10.1053/j.ajkd.2024.04.008","DOIUrl":"10.1053/j.ajkd.2024.04.008","url":null,"abstract":"<p><p>There has been a steady rise in the use of clinical decision support (CDS) tools to guide nephrology as well as general clinical care. Through guidance set by federal agencies and concerns raised by clinical investigators, there has been an equal rise in understanding whether such tools exhibit algorithmic bias leading to unfairness. This has spurred the more fundamental question of whether sensitive variables such as race should be included in CDS tools. In order to properly answer this question, it is necessary to understand how algorithmic bias arises. We break down 3 sources of bias encountered when using electronic health record data to develop CDS tools: (1) use of proxy variables, (2) observability concerns and (3) underlying heterogeneity. We discuss how answering the question of whether to include sensitive variables like race often hinges more on qualitative considerations than on quantitative analysis, dependent on the function that the sensitive variable serves. Based on our experience with our own institution's CDS governance group, we show how health system-based governance committees play a central role in guiding these difficult and important considerations. Ultimately, our goal is to foster a community practice of model development and governance teams that emphasizes consciousness about sensitive variables and prioritizes equity.</p>","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":" ","pages":"780-786"},"PeriodicalIF":9.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141293006","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}
Pub Date : 2024-12-01Epub Date: 2024-07-19DOI: 10.1053/j.ajkd.2024.05.008
Rachel Shulman, Wei Yang, Debbie L Cohen, Peter P Reese, Jordana B Cohen
<p><strong>Rationale & objective: </strong>The clinical trajectory of normoalbuminuric chronic kidney disease (CKD), particularly in the absence of diabetes, has not yet been well-studied. This study evaluated the association of kidney and cardiovascular outcomes with levels of albuminuria in a cohort of patients with nondiabetic CKD.</p><p><strong>Study design: </strong>Prospective cohort study.</p><p><strong>Setting & participants: </strong>1,463 adults with nondiabetic CKD without known glomerulonephritis and diagnosed with hypertensive nephrosclerosis or unknown cause of CKD participating in the Chronic Renal Insufficiency Cohort (CRIC) Study.</p><p><strong>Exposure: </strong>Albuminuria stage at study entry.</p><p><strong>Outcome: </strong>Primary outcome: Composite kidney (halving of estimated glomerular filtration rate [eGFR], kidney transplantation, or dialysis), Secondary outcomes: (1) eGFR slope, (2) composite cardiovascular disease events (hospitalization for heart failure, myocardial infarction, stroke, or all-cause death), (3) all-cause death.</p><p><strong>Analytical approach: </strong>Linear mixed effects and Cox proportional hazards regression analyses.</p><p><strong>Results: </strong>Lower levels of albuminuria were associated with female sex and older age. For the primary outcome, compared with normoalbuminuria, those with moderate and severe albuminuria had higher rates of kidney outcomes (adjusted hazard ratio [AHR], 3.3 [95% CI, 2.4-4.6], and AHR, 8.6 [95% CI, 6.0-12.0], respectively) and cardiovascular outcomes (AHR, 1.5 [95% CI, 1.2-1.9], and AHR, 1.5 [95% CI, 1.1-2.0], respectively). Those with normoalbuminuria (<30μg/mg; n=863) had a slower decline in eGFR (-0.46mL/min/1.73m<sup>2</sup> per year) compared with those with moderate (30-300μg/mg, n=372; 1.41mL/min/1.73m<sup>2</sup> per year) or severe albuminuria (>300μg/mg, n=274; 2.63mL/min/1.73m<sup>2</sup> per year). In adjusted analyses, kidney outcomes occurred, on average, sooner among those with moderate (8.6 years) and severe (7.3 years) albuminuria compared with those with normoalbuminuria (9.3 years) whereas the average times to cardiovascular outcomes were similar across albuminuria groups (8.2, 8.1, and 8.6 years, respectively).</p><p><strong>Limitations: </strong>Self-report of CKD etiology without confirmatory kidney biopsies; residual confounding.</p><p><strong>Conclusions: </strong>Participants with normoalbuminuric nondiabetic CKD experienced substantially slower CKD progression but only modestly lower cardiovascular risk than those with high levels of albuminuria. These findings inform the design of future studies investigating interventions among individuals with lower levels of albuminuria.</p><p><strong>Plain-language summary: </strong>Diabetes and hypertension are the leading causes of chronic kidney disease (CKD). Urine albumin levels are associated with cardiovascular and kidney disease outcomes among individuals with CKD. However, previous studies o
理由和目标:对于正常白蛋白尿型慢性肾脏病(CKD)的临床轨迹,尤其是在无糖尿病的情况下,尚未进行深入研究。本研究评估了非糖尿病慢性肾脏病患者队列中肾脏和心血管预后与白蛋白尿水平的关系:前瞻性队列研究:参加慢性肾功能不全队列(CRIC)研究的1,463名非糖尿病慢性肾功能不全成人患者,无已知肾小球肾炎,被诊断为高血压肾硬化症或慢性肾功能不全原因不明:研究开始时的白蛋白尿分期:主要结果次要结局:(1) eGFR斜率;(2) 复合心血管疾病事件(因心力衰竭、心肌梗死、中风或全因死亡住院);(3) 全因死亡:分析方法:线性混合效应和考克斯比例危险回归分析:结果:白蛋白尿水平较低与女性和年龄较大有关。就主要结果而言,与正常白蛋白尿相比,中度和重度白蛋白尿患者的肾脏结果(调整后危险比[aHR]3.3,95% CI 2.4-4.6;aHR 8.6,95% CI 6.0-12.0)和心血管结果(aHR 1.5,95% CI 1.2-1.9;aHR 1.5,95% CI 1.1-2.0)发生率较高。正常白蛋白尿患者(300 毫克/毫克,N=274;2.63 毫升/分钟/1.73 平方米/年)。在调整分析中,与正常白蛋白尿患者(9.3年)相比,中度(8.6年)和重度(7.3年)白蛋白尿患者出现肾脏疾病结果的平均时间更早,而各组白蛋白尿患者出现心血管疾病结果的平均时间相似(分别为8.2年、8.1年和8.6年):局限性:CKD病因自我报告,未进行肾活检确诊。结论:正常白蛋白尿型非糖尿病慢性肾脏病患者的慢性肾脏病进展速度大大减缓,但心血管风险仅略低于白蛋白尿水平高的患者。这些发现为今后设计针对白蛋白尿水平较低人群的干预研究提供了参考。
{"title":"Cardiovascular and Kidney Outcomes of Non-Diabetic CKD by Albuminuria Severity: Findings From the CRIC Study.","authors":"Rachel Shulman, Wei Yang, Debbie L Cohen, Peter P Reese, Jordana B Cohen","doi":"10.1053/j.ajkd.2024.05.008","DOIUrl":"10.1053/j.ajkd.2024.05.008","url":null,"abstract":"<p><strong>Rationale & objective: </strong>The clinical trajectory of normoalbuminuric chronic kidney disease (CKD), particularly in the absence of diabetes, has not yet been well-studied. This study evaluated the association of kidney and cardiovascular outcomes with levels of albuminuria in a cohort of patients with nondiabetic CKD.</p><p><strong>Study design: </strong>Prospective cohort study.</p><p><strong>Setting & participants: </strong>1,463 adults with nondiabetic CKD without known glomerulonephritis and diagnosed with hypertensive nephrosclerosis or unknown cause of CKD participating in the Chronic Renal Insufficiency Cohort (CRIC) Study.</p><p><strong>Exposure: </strong>Albuminuria stage at study entry.</p><p><strong>Outcome: </strong>Primary outcome: Composite kidney (halving of estimated glomerular filtration rate [eGFR], kidney transplantation, or dialysis), Secondary outcomes: (1) eGFR slope, (2) composite cardiovascular disease events (hospitalization for heart failure, myocardial infarction, stroke, or all-cause death), (3) all-cause death.</p><p><strong>Analytical approach: </strong>Linear mixed effects and Cox proportional hazards regression analyses.</p><p><strong>Results: </strong>Lower levels of albuminuria were associated with female sex and older age. For the primary outcome, compared with normoalbuminuria, those with moderate and severe albuminuria had higher rates of kidney outcomes (adjusted hazard ratio [AHR], 3.3 [95% CI, 2.4-4.6], and AHR, 8.6 [95% CI, 6.0-12.0], respectively) and cardiovascular outcomes (AHR, 1.5 [95% CI, 1.2-1.9], and AHR, 1.5 [95% CI, 1.1-2.0], respectively). Those with normoalbuminuria (<30μg/mg; n=863) had a slower decline in eGFR (-0.46mL/min/1.73m<sup>2</sup> per year) compared with those with moderate (30-300μg/mg, n=372; 1.41mL/min/1.73m<sup>2</sup> per year) or severe albuminuria (>300μg/mg, n=274; 2.63mL/min/1.73m<sup>2</sup> per year). In adjusted analyses, kidney outcomes occurred, on average, sooner among those with moderate (8.6 years) and severe (7.3 years) albuminuria compared with those with normoalbuminuria (9.3 years) whereas the average times to cardiovascular outcomes were similar across albuminuria groups (8.2, 8.1, and 8.6 years, respectively).</p><p><strong>Limitations: </strong>Self-report of CKD etiology without confirmatory kidney biopsies; residual confounding.</p><p><strong>Conclusions: </strong>Participants with normoalbuminuric nondiabetic CKD experienced substantially slower CKD progression but only modestly lower cardiovascular risk than those with high levels of albuminuria. These findings inform the design of future studies investigating interventions among individuals with lower levels of albuminuria.</p><p><strong>Plain-language summary: </strong>Diabetes and hypertension are the leading causes of chronic kidney disease (CKD). Urine albumin levels are associated with cardiovascular and kidney disease outcomes among individuals with CKD. However, previous studies o","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":" ","pages":"742-750.e1"},"PeriodicalIF":9.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141733303","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}
Pub Date : 2024-12-01Epub Date: 2024-07-19DOI: 10.1053/j.ajkd.2024.05.009
Samira S Farouk, Anshul Bhalla, Meera Harhay, Laila Lakhani, Luis Sanchez Russo, Scott Sanoff, Manpreet Samra, Matthew A Sparks, Niralee Patel, Fasika Tedla, Anju Yadav, Roslyn B Mannon
{"title":"More Exams, More Problems: Do We Really Need a New Accreditation System for Transplant Nephrology?","authors":"Samira S Farouk, Anshul Bhalla, Meera Harhay, Laila Lakhani, Luis Sanchez Russo, Scott Sanoff, Manpreet Samra, Matthew A Sparks, Niralee Patel, Fasika Tedla, Anju Yadav, Roslyn B Mannon","doi":"10.1053/j.ajkd.2024.05.009","DOIUrl":"10.1053/j.ajkd.2024.05.009","url":null,"abstract":"","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":" ","pages":"663-666"},"PeriodicalIF":9.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141733305","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}
Pub Date : 2024-12-01Epub Date: 2024-08-06DOI: 10.1053/j.ajkd.2024.06.011
Elodie Speyer, Charlotte Tu, Jarcy Zee, Ricardo Sesso, Antonio A Lopes, Emilie Moutard, Abdou Y Omorou, Bénédicte Stengel, Fredric O Finkelstein, Roberto Pecoits-Filho, Natalia Alencar de Pinho, Ronald L Pisoni
<p><strong>Rationale & objective: </strong>Recent evidence suggests people with nondialysis chronic kidney disease (ND-CKD) experience a substantial burden of symptoms, but informative large-scale studies have been scarce. We assessed the prevalence of symptoms and the association of overall symptom burden with quality of life in patients with moderate to severe CKD.</p><p><strong>Study design: </strong>Cross-sectional study.</p><p><strong>Setting & participants: </strong>4,430 patients with ND-CKD stages 3-5 enrolled in the Chronic Kidney Disease Outcomes and Practice Patterns Study (CKDopps) in Brazil, France, and the United States between 2013 and 2021.</p><p><strong>Exposure: </strong>13 individual patient-reported symptoms from the Kidney Disease Quality of Life Short Form (KDQOL-SF) questionnaire and an overall symptom burden score (low, intermediate, and high).</p><p><strong>Outcome: </strong>Physical and mental component summary scores (PCS and MCS) of the KDQOL-SF.</p><p><strong>Analytical approach: </strong>Adjusted prevalence ratios and generalized estimating equations.</p><p><strong>Results: </strong>Patients (mean age, 68 years; 40% women; mean baseline estimated glomerular filtration rate [eGFR], 30mL/min/1.73m<sup>2</sup>) were very much to extremely bothered by numerous symptoms ("soreness in muscles," 23%; "washed out or drained," 21%; "cramps, shortness of breath, dry skin, diminished sex life, or numbness in hands or feet," 14%-17%). The adjusted prevalences of "cramps," "washed out or drained," "lack of appetite," "nausea/upset stomach," and "sex life" were greater with more severe CKD and in women (except for "sex life"). A high overall symptom burden was more common in women, in France, and in patients with severe albuminuria and various comorbidities, but not with lower eGFR. The PCS and MCS scores were 13.4 and 7.7 points lower, respectively, for high versus low overall symptom burden.</p><p><strong>Limitations: </strong>Generalizability limited to patients under nephrology care, residual confounding, and inaccurate Brazilian translation of some symptoms.</p><p><strong>Conclusions: </strong>The high symptom burden observed in this large cohort of ND-CKD patients across 3 diverse countries and its strong association with poorer health-related quality of life should inform clinical management of and clinical research in CKD.</p><p><strong>Plain-language summary: </strong>Little is known about symptoms in patients with non-dialysis-dependent chronic kidney disease (ND-CKD). In the Chronic Kidney Disease Outcomes and Practice Patterns Study, which enrolled 4,430 patients with CKD stages 3-5 in Brazil, France, and the United States, patients most often reported soreness in muscles, feeling washed out or drained, cramps, shortness of breath, dry skin, altered sex life, and numbness in hands or feet. Cramps, feeling washed out or drained, lack of appetite, and nausea were more often reported at lower levels of kidney function. Th
{"title":"Symptom Burden and Its Impact on Quality of Life in Patients With Moderate to Severe CKD: The International Chronic Kidney Disease Outcomes and Practice Patterns Study (CKDopps).","authors":"Elodie Speyer, Charlotte Tu, Jarcy Zee, Ricardo Sesso, Antonio A Lopes, Emilie Moutard, Abdou Y Omorou, Bénédicte Stengel, Fredric O Finkelstein, Roberto Pecoits-Filho, Natalia Alencar de Pinho, Ronald L Pisoni","doi":"10.1053/j.ajkd.2024.06.011","DOIUrl":"10.1053/j.ajkd.2024.06.011","url":null,"abstract":"<p><strong>Rationale & objective: </strong>Recent evidence suggests people with nondialysis chronic kidney disease (ND-CKD) experience a substantial burden of symptoms, but informative large-scale studies have been scarce. We assessed the prevalence of symptoms and the association of overall symptom burden with quality of life in patients with moderate to severe CKD.</p><p><strong>Study design: </strong>Cross-sectional study.</p><p><strong>Setting & participants: </strong>4,430 patients with ND-CKD stages 3-5 enrolled in the Chronic Kidney Disease Outcomes and Practice Patterns Study (CKDopps) in Brazil, France, and the United States between 2013 and 2021.</p><p><strong>Exposure: </strong>13 individual patient-reported symptoms from the Kidney Disease Quality of Life Short Form (KDQOL-SF) questionnaire and an overall symptom burden score (low, intermediate, and high).</p><p><strong>Outcome: </strong>Physical and mental component summary scores (PCS and MCS) of the KDQOL-SF.</p><p><strong>Analytical approach: </strong>Adjusted prevalence ratios and generalized estimating equations.</p><p><strong>Results: </strong>Patients (mean age, 68 years; 40% women; mean baseline estimated glomerular filtration rate [eGFR], 30mL/min/1.73m<sup>2</sup>) were very much to extremely bothered by numerous symptoms (\"soreness in muscles,\" 23%; \"washed out or drained,\" 21%; \"cramps, shortness of breath, dry skin, diminished sex life, or numbness in hands or feet,\" 14%-17%). The adjusted prevalences of \"cramps,\" \"washed out or drained,\" \"lack of appetite,\" \"nausea/upset stomach,\" and \"sex life\" were greater with more severe CKD and in women (except for \"sex life\"). A high overall symptom burden was more common in women, in France, and in patients with severe albuminuria and various comorbidities, but not with lower eGFR. The PCS and MCS scores were 13.4 and 7.7 points lower, respectively, for high versus low overall symptom burden.</p><p><strong>Limitations: </strong>Generalizability limited to patients under nephrology care, residual confounding, and inaccurate Brazilian translation of some symptoms.</p><p><strong>Conclusions: </strong>The high symptom burden observed in this large cohort of ND-CKD patients across 3 diverse countries and its strong association with poorer health-related quality of life should inform clinical management of and clinical research in CKD.</p><p><strong>Plain-language summary: </strong>Little is known about symptoms in patients with non-dialysis-dependent chronic kidney disease (ND-CKD). In the Chronic Kidney Disease Outcomes and Practice Patterns Study, which enrolled 4,430 patients with CKD stages 3-5 in Brazil, France, and the United States, patients most often reported soreness in muscles, feeling washed out or drained, cramps, shortness of breath, dry skin, altered sex life, and numbness in hands or feet. Cramps, feeling washed out or drained, lack of appetite, and nausea were more often reported at lower levels of kidney function. Th","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":" ","pages":"696-707.e1"},"PeriodicalIF":9.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141905565","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}
Pub Date : 2024-12-01Epub Date: 2024-06-20DOI: 10.1053/j.ajkd.2024.03.023
Antonio Yaghy
{"title":"The Ties That Bind.","authors":"Antonio Yaghy","doi":"10.1053/j.ajkd.2024.03.023","DOIUrl":"10.1053/j.ajkd.2024.03.023","url":null,"abstract":"","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":" ","pages":"A11"},"PeriodicalIF":9.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141433759","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}
Pub Date : 2024-12-01Epub Date: 2024-07-08DOI: 10.1053/j.ajkd.2024.06.006
Chenyu Li, Katalin Susztak
{"title":"Genetic Insights into Blood Pressure From Kidney Multi-Omics.","authors":"Chenyu Li, Katalin Susztak","doi":"10.1053/j.ajkd.2024.06.006","DOIUrl":"10.1053/j.ajkd.2024.06.006","url":null,"abstract":"","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":" ","pages":"787-790"},"PeriodicalIF":9.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141578702","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}
Pub Date : 2024-12-01Epub Date: 2024-05-29DOI: 10.1053/j.ajkd.2024.03.027
Andreia Curto, Tiago Assis Pereira, Ana Carina Ferreira
{"title":"The Use of Ultrasound in Peritoneal Dialysis Setting.","authors":"Andreia Curto, Tiago Assis Pereira, Ana Carina Ferreira","doi":"10.1053/j.ajkd.2024.03.027","DOIUrl":"10.1053/j.ajkd.2024.03.027","url":null,"abstract":"","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":" ","pages":"798"},"PeriodicalIF":9.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141183350","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}
Pub Date : 2024-12-01Epub Date: 2024-07-24DOI: 10.1053/j.ajkd.2024.05.014
Stefano Volpi, Maria L Angelotti, Giulia Palazzini, Giulia Antonelli, Fiammetta Ravaglia, Federica Garibotto, Anna Agrusti, Alice Grossi, Alberto Magnasco, Giovanni M Rossi, Carmela Errichiello, Francesco Peyronel, Elisa Buti, Lorenzo Lodi, Gian M Ghiggeri, Paola Romagnani, Augusto Vaglio
DNASE1L3 is an extracellular nuclease that digests chromatin released from apoptotic cells. DNASE1L3 variants impair the enzyme function, enhance autoantibody production and type I interferon (IFN-I) responses, and cause different autosomal recessive phenotypes ranging from hypocomplementemic urticarial vasculitis syndrome to full-blown systemic lupus erythematosus (SLE). Kidney involvement in patients with DNASE1L3 variants is poorly characterized. Herein, we describe the clinical course of 3 children with monogenic SLE due to DNASE1L3 variants who developed refractory glomerulonephritis leading to kidney failure. They had different renal histopathological patterns (ie, membranous, endocapillary, and extracapillary glomerulonephritis and thrombotic microangiopathy), all belonging to the lupus nephritis (LN) spectrum. One patient had a mixed phenotype, showing an overlap between SLE and antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis. Using immunofluorescence, we detected glomerular expression of the IFN-I-induced human myxovirus resistance protein 1 (MXA), which was particularly evident in glomerular endothelial cells. Two of the patients had increased expression of interferon-stimulated genes in the peripheral blood, and all 3 patients had reduced serum DNAse activity. Our findings suggest that DNASE1L3-related glomerulonephritis can be included in the spectrum of IFN-I-mediated kidney disorders and provide the rationale for IFN-I-directed therapies in order to improve the poor outcome of this rare condition.
DNASE1L3 是一种细胞外核酸酶,可消化凋亡细胞释放的染色质。DNASE1L3 基因突变会损害酶的功能,增强自身抗体的产生和 I 型干扰素(IFN-I)的反应,并导致不同的常染色体隐性遗传表型,从低补体荨麻疹性血管炎综合征到全面的系统性红斑狼疮(SLE)。DNASE1L3基因突变患者的肾脏受累情况尚不明确。在此,我们描述了三名因 DNASE1L3 基因突变而患单基因系统性红斑狼疮的儿童的临床病程,他们患上了难治性肾小球肾炎,导致肾衰竭。他们的肾脏组织病理形态各异(即膜性、毛细血管内和毛细血管外肾小球肾炎以及血栓性微血管病),均属于狼疮肾炎(LN)谱系。一名患者的表型为混合型,显示出系统性红斑狼疮和ANCA相关性血管炎的重叠。通过免疫荧光技术,我们检测到了 IFN I 诱导的人类肌瘤病毒抗性蛋白 1(MXA)在肾小球中的表达,这种表达在肾小球内皮细胞中尤为明显。2/3的患者外周血中干扰素刺激基因的表达增加,所有三名患者的血清DNA酶活性都降低了。我们的研究结果表明,DNASE1L3相关肾小球肾炎可被纳入IFN I介导的肾脏疾病谱,并为IFN I导向疗法提供了理论依据,以改善这种罕见疾病的不良预后。
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Pub Date : 2024-12-01Epub Date: 2024-10-29DOI: 10.1053/j.ajkd.2024.07.004
Sehoon Park, Jeong Min Cho, Dong Ki Kim
{"title":"Exploring the Causal Relationship Between Kidney Function and Cancer Risk: Insights and Limitations of Mendelian Randomization.","authors":"Sehoon Park, Jeong Min Cho, Dong Ki Kim","doi":"10.1053/j.ajkd.2024.07.004","DOIUrl":"10.1053/j.ajkd.2024.07.004","url":null,"abstract":"","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":" ","pages":"670-671"},"PeriodicalIF":9.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543060","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}