American Journal of Kidney Diseases最新文献

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Homozygosity for a Rare FASTKD2 Variant Resulting in an Adult Onset Autosomal Recessive Mitochondrial Podocytopathy. 导致成人发病的常染色体隐性线粒体荚膜细胞病的罕见 FASTKD2 变体同基因遗传。
IF 9.4 1区 医学
American Journal of Kidney Diseases Pub Date : 2024-07-31 DOI: 10.1053/j.ajkd.2024.05.018
Francisco Pereira Gonçalves, Isabel Tavares, Roberto Silva, Ana Teresa Nunes, Luciano Pereira, Andreia Campos, Joel Pinto, Ana Lopes, Marta Simões, Manuela Grazina, Agnes B Fogo, João Paulo Oliveira
{"title":"Homozygosity for a Rare FASTKD2 Variant Resulting in an Adult Onset Autosomal Recessive Mitochondrial Podocytopathy.","authors":"Francisco Pereira Gonçalves, Isabel Tavares, Roberto Silva, Ana Teresa Nunes, Luciano Pereira, Andreia Campos, Joel Pinto, Ana Lopes, Marta Simões, Manuela Grazina, Agnes B Fogo, João Paulo Oliveira","doi":"10.1053/j.ajkd.2024.05.018","DOIUrl":"10.1053/j.ajkd.2024.05.018","url":null,"abstract":"<p><p>Mitochondrial cytopathies can have kidney involvement in up to half of cases. Their diagnosis is challenging due to phenotypic variability, lack of noninvasive tests to assess mitochondrial dysfunction, and genetic heterogeneity. We report on a young adult male with hypertrophic cardiomyopathy (HCM) and chronic kidney disease (CKD) with subnephrotic proteinuria who presented to the emergency department with kidney failure and hypervolemia requiring dialysis. A kidney biopsy showed focal segmental and global glomerulosclerosis, extensive foot process effacement, and abnormal mitochondria in podocytes and tubular epithelial cells; the genetic workup identified a rare FASTKD2 exon 2 variant, c.29G>C p.(Ser10Thr), in homozygosity; and functional mitochondrial assays in cultured skin fibroblasts showed reduction in FASTKD2 protein expression and moderate combined impairment in mitochondrial respiratory chain (MRC) assembly and function. This is the first report of a FASTKD2-associated cardiorenal mitochondrial cytopathy, characterized by young adult-onset proteinuric CKD and dilated HCM, in the absence of the severe neurologic manifestations described in patients with biallelic FASTKD2 variants. We hypothesize that the increased production of reactive oxygen species associated with moderate MRC impairment could result in a smoldering podocytopathy with progressive proteinuric CKD, without overt tubulopathy or encephalomyopathy-which might be, instead, pathogenically related to adenosine triphosphate deficiency.</p>","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":" ","pages":""},"PeriodicalIF":9.4,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141878212","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}
引用次数: 0
Causal Relationship Between Kidney Function and Cancer Risk: A Mendelian Randomization Study 肾功能与癌症风险之间的因果关系:孟德尔随机研究。
IF 9.4 1区 医学
American Journal of Kidney Diseases Pub Date : 2024-07-30 DOI: 10.1053/j.ajkd.2024.05.016
Ellen Dobrijevic , Anita van Zwieten , Andrew J. Grant , Clement T. Loy , Jonathan C. Craig , Armando Teixeira-Pinto , Germaine Wong
{"title":"Causal Relationship Between Kidney Function and Cancer Risk: A Mendelian Randomization Study","authors":"Ellen Dobrijevic ,&nbsp;Anita van Zwieten ,&nbsp;Andrew J. Grant ,&nbsp;Clement T. Loy ,&nbsp;Jonathan C. Craig ,&nbsp;Armando Teixeira-Pinto ,&nbsp;Germaine Wong","doi":"10.1053/j.ajkd.2024.05.016","DOIUrl":"10.1053/j.ajkd.2024.05.016","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Rationale &amp; Objective&lt;/h3&gt;&lt;div&gt;Patients treated with kidney replacement therapy experience a 1.5- to 2-fold increased risk of cancer and cancer mortality compared with the general population. Whether this excess risk extends to people with earlier stage chronic kidney disease and whether reduced kidney function is causally related to cancer is unclear.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Study Design&lt;/h3&gt;&lt;div&gt;Two-sample Mendelian randomization (MR).&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Setting &amp; Participants&lt;/h3&gt;&lt;div&gt;Genome-wide association study (GWAS) summary statistics for estimated glomerular filtration rate (eGFR) (n&lt;!--&gt; &lt;!--&gt;=&lt;!--&gt; &lt;!--&gt;567,460) and urinary albumin-creatine ratio (UACR) (n&lt;!--&gt; &lt;!--&gt;=&lt;!--&gt; &lt;!--&gt;127,865) from the CKDGen consortium and cancer outcomes from the UK Biobank (n = 407,329).&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Exposure&lt;/h3&gt;&lt;div&gt;eGFR and UACR.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Outcome&lt;/h3&gt;&lt;div&gt;Overall cancer incidence, cancer-related mortality and site-specific colorectal, lung, and urinary tract cancer incidence.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Analytical Approach&lt;/h3&gt;&lt;div&gt;Univariable and multivariable MR conducted for all outcomes.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;div&gt;The mean eGFR and median UACR were 91.4&lt;!--&gt; &lt;!--&gt;mL/min/1.73&lt;!--&gt; &lt;!--&gt;m&lt;sup&gt;2&lt;/sup&gt; and 9.32&lt;!--&gt; &lt;!--&gt;mg/g, respectively, in the CKDGen, and 90.4&lt;!--&gt; &lt;!--&gt;mL/min/1.73&lt;!--&gt; &lt;!--&gt;m&lt;sup&gt;2&lt;/sup&gt; and 9.29&lt;!--&gt; &lt;!--&gt;mg/g, respectively, in the UK Biobank. There were 98,093 cases of cancer, 15,850 cases of cancer-related death, 6,664 colorectal, 3584 lung, and 3,271 urinary tract cancer cases, respectively. The genetic instruments for eGFR and UACR comprised 34 and 38 variants, respectively. Genetically predicted kidney function (eGFR and UACR) was not associated with overall cancer risk or cancer death. The association between genetically predicted eGFR and UACR and overall cancer incidence had an odds ratio of 0.88 ([95% CI, 0.40-1.97], &lt;em&gt;P&lt;/em&gt; &lt;!--&gt;=&lt;!--&gt; &lt;!--&gt;0.8) and 0.90 ([95% CI, 0.78-1.04], &lt;em&gt;P&lt;/em&gt; &lt;!--&gt;=&lt;!--&gt; &lt;!--&gt;0.2) respectively, using the inverse-variance weighted method. An adjusted generalized additive model for eGFR and cancer demonstrated evidence of nonlinearity. However, there was no evidence of a causal association between eGFR and cancer in a stratified MR.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Limitations&lt;/h3&gt;&lt;div&gt;To avoid overlapping samples a smaller GWAS for UACR was used, which reduced the strength of the instrument and may introduce population stratification.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Conclusions&lt;/h3&gt;&lt;div&gt;Our study did not show a causal association between kidney function, overall cancer incidence, and cancer-related death.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Plain-Language Summary&lt;/h3&gt;&lt;div&gt;Does reduced kidney function cause cancer? Patients with chronic kidney disease have been shown to have an increased risk of cancer and cancer-related death. However, it is not clear whether kidney disease is causally related to cancer or the association is due to other factors such as immune suppression and inflammation or a resu","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":"84 6","pages":"Pages 686-695.e1"},"PeriodicalIF":9.4,"publicationDate":"2024-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141858749","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}
引用次数: 0
Cumulative Blood Pressure Load and Incident CKD 累积血压负荷与慢性肾脏病发病率。
IF 9.4 1区 医学
American Journal of Kidney Diseases Pub Date : 2024-07-30 DOI: 10.1053/j.ajkd.2024.05.015
Hye-Sun Park , Sang Ho Park , Yeseul Seong , Hyo Jeong Kim , Hoon Young Choi , Hyeong Cheon Park , Jong Hyun Jhee
{"title":"Cumulative Blood Pressure Load and Incident CKD","authors":"Hye-Sun Park ,&nbsp;Sang Ho Park ,&nbsp;Yeseul Seong ,&nbsp;Hyo Jeong Kim ,&nbsp;Hoon Young Choi ,&nbsp;Hyeong Cheon Park ,&nbsp;Jong Hyun Jhee","doi":"10.1053/j.ajkd.2024.05.015","DOIUrl":"10.1053/j.ajkd.2024.05.015","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Rationale &amp; Objective&lt;/h3&gt;&lt;div&gt;The association of long-term cumulative blood pressure (BP) loads with the risk of incident chronic kidney disease (CKD) remains a matter of debate. This study investigated this association among healthy Korean adults with normal kidney function.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Study Design&lt;/h3&gt;&lt;div&gt;Prospective cohort study.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Setting &amp; Participants&lt;/h3&gt;&lt;div&gt;We analyzed 5,221 participants without CKD in the Korean Genome and Epidemiology Study. Cumulative systolic and diastolic BP (SBP and DBP) loads were calculated as the ratios of the areas under the curve (AUC) for SBP&lt;!--&gt; &lt;!--&gt;≥120&lt;!--&gt; &lt;!--&gt;mm Hg or&lt;!--&gt; &lt;!--&gt;≥80&lt;!--&gt; &lt;!--&gt;mm Hg for DBP divided by the AUC for all SBP or DBP measurements during the exposure period. These AUCs were categorized into 4 groups: group 0 (reference), cumulative BP load of 0 and groups 1-3, tertiles of cumulative BP loads.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Outcome&lt;/h3&gt;&lt;div&gt;Primary end point was incident CKD defined as a composite of an estimated glomerular filtration rate (eGFR) below 60&lt;!--&gt; &lt;!--&gt;mL/min/1.73&lt;!--&gt; &lt;!--&gt;m&lt;sup&gt;2&lt;/sup&gt; or proteinuria greater than 1+&lt;!--&gt; &lt;!--&gt;on dipstick examination for at least 2 consecutive measurements&lt;!--&gt; &lt;!--&gt;≥90 days apart.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Analytical Approach&lt;/h3&gt;&lt;div&gt;Multivariable Cox proportional hazards regression to estimate the independent association of cumulative BP loads with incident CKD.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;div&gt;Higher cumulative SBP and DBP loads were associated with an increased risk of incident CKD (HR, 1.23 [95% CI, 1.12-1.35] for SBP; and HR, 1.14 [95% CI, 1.04-1.26] for DBP loads for each 1.0-unit greater load). Compared with SBP group 0, groups 2 and 3 were associated with 1.94- and 1.89-fold greater risk of incident CKD. Compared with DBP group 0, groups 2 and 3 were associated with 1.42- and 1.54-fold greater risks. These associations of high cumulative BP loads with an increased risk of incident CKD remained consistent even in the subgroups not taking antihypertensive agents or without prior hypertension diagnosis.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Limitations&lt;/h3&gt;&lt;div&gt;The assessment of CKD outcomes relied on eGFR and spot urine tests.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Conclusions&lt;/h3&gt;&lt;div&gt;These findings highlight the association between high cumulative SBP and DBP loads and the occurrence of CKD, even in individuals with normal BP levels.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Plain-Language Summary&lt;/h3&gt;&lt;div&gt;Although hypertension is a major risk factor for chronic kidney disease (CKD), most studies have focused on single-point blood pressure (BP) measurements. To explore the association between long-term cumulative BP load and the development of CKD, 5,221 Korean adults with normal kidney function were included in this study. Cumulative systolic BP and diastolic BP load both exhibited a significant association with an increased risk of incident CKD. Notably, the association of cumulative BP loads with elevated risk of incident CKD was evident also ","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":"84 6","pages":"Pages 675-685.e1"},"PeriodicalIF":9.4,"publicationDate":"2024-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141858750","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}
引用次数: 0
Burden of CKD-Associated Pruritus and Adverse Clinical Outcomes in Patients Receiving Dialysis: The Stockholm Creatinine Measurements (SCREAM) Project. 透析患者中与 CKD 相关的瘙痒负担和不良临床结果:斯德哥尔摩 CREAtinine 测量(SCREAM)项目。
IF 9.4 1区 医学
American Journal of Kidney Diseases Pub Date : 2024-07-26 DOI: 10.1053/j.ajkd.2024.05.013
Anne-Laure Faucon, Catherine M Clase, Helena Rydell, Milica Uhde, Peter Barany, Marie Evans, Juan-Jesús Carrero
{"title":"Burden of CKD-Associated Pruritus and Adverse Clinical Outcomes in Patients Receiving Dialysis: The Stockholm Creatinine Measurements (SCREAM) Project.","authors":"Anne-Laure Faucon, Catherine M Clase, Helena Rydell, Milica Uhde, Peter Barany, Marie Evans, Juan-Jesús Carrero","doi":"10.1053/j.ajkd.2024.05.013","DOIUrl":"10.1053/j.ajkd.2024.05.013","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Rationale & objective: &lt;/strong&gt;Pruritus is a common but not well-characterized complaint of patients receiving maintenance dialysis. This study sought to quantify the burden of pruritus and its associated adverse health outcomes in this population.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study design: &lt;/strong&gt;Observational study.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Setting & participants: &lt;/strong&gt;All patients receiving maintenance dialysis in Stockholm, Sweden, during 2005-2021.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Exposure: &lt;/strong&gt;Clinically recognized pruritus defined using International Classification of Diseases, Tenth Revision codes or a prescription for antipruritus treatments (including UV therapy).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Outcomes: &lt;/strong&gt;All-cause mortality, severe infection-related hospitalizations (composite of endocarditis, peritoneal dialysis-related peritonitis, hemodialysis/peritoneal dialysis-related catheter infection, sepsis due to Staphylococcus spp., or skin infection) and incident diagnoses of anxiety/depression and sleep disorders.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Analytical approach: &lt;/strong&gt;Multivariable logistic regression and cause-specific hazards models to analyze factors associated with prevalent and new-onset pruritus, respectively. Multivariable cause-specific hazards models with time-varying exposure were used to explore the association of prevalent and new-onset pruritus with adverse health outcomes.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Among 3,281 dialysis recipients (median age, 64 years; 66% men; 69% receiving hemodialysis, 77% with incident dialysis), 456 (14%) had pruritus at enrollment. During a median follow-up of 3.3 (IQR, 1.3-9.2) years, 539 (19%) additional patients experienced pruritus. Older age, female sex, a lower serum albumin level, and higher C-reactive protein, serum calcium, and phosphorus levels were independently associated with pruritus. Compared with patients without pruritus, patients with pruritus were at a higher risk of sleep disorders (adjusted HR, 1.96; 95% CI, 1.60-2.39), developing anxiety/depression (adjusted HR, 1.56; 95% CI, 1.23-1.98), and being hospitalized for severe infections (adjusted HR, 1.36; 95% CI, 1.18-1.57), the latter attributed to higher risk of sepsis and peritoneal dialysis-related peritonitis. There was no detectable association between the development of pruritus and all-cause mortality.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Limitations: &lt;/strong&gt;Potential misclassification bias if pruritus is not clinically recognized, lack of information on pruritus intensity/severity, use of diagnostic codes for exposure and outcome diagnoses.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;At least one third of patients experience pruritus during their first years undergoing dialysis, and pruritus was consistently associated with adverse health outcomes.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Plain-language summary: &lt;/strong&gt;Pruritus is a common but not well-characterized symptom of patients receiving dialysis. We analyzed data from 3,281 patients receiving maintenance hemodialysis or peritoneal dialysis in the region o","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":" ","pages":""},"PeriodicalIF":9.4,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141787040","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}
引用次数: 0
Yet More Reassurance: Treat-to-Target With Allopurinol or Febuxostat is Safe and Effective in Lowering Serum Urate in People With CKD 更多保证使用别嘌醇或非布司他进行 "靶向治疗 "可安全有效地降低慢性肾脏病患者的血清尿酸盐。
IF 9.4 1区 医学
American Journal of Kidney Diseases Pub Date : 2024-07-25 DOI: 10.1053/j.ajkd.2024.06.005
Lisa K. Stamp , Nicola Dalbeth , David B. Mount
{"title":"Yet More Reassurance: Treat-to-Target With Allopurinol or Febuxostat is Safe and Effective in Lowering Serum Urate in People With CKD","authors":"Lisa K. Stamp ,&nbsp;Nicola Dalbeth ,&nbsp;David B. Mount","doi":"10.1053/j.ajkd.2024.06.005","DOIUrl":"10.1053/j.ajkd.2024.06.005","url":null,"abstract":"","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":"84 5","pages":"Pages 529-531"},"PeriodicalIF":9.4,"publicationDate":"2024-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141750873","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}
引用次数: 0
Lupus Nephritis Patterns and Response to Type I Interferon in Patients With DNASE1L3 Variants: Report of Three Cases DNASE1L3突变患者的狼疮肾炎模式和对I型干扰素的反应:三个病例的报告
IF 9.4 1区 医学
American Journal of Kidney Diseases Pub Date : 2024-07-24 DOI: 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
{"title":"Lupus Nephritis Patterns and Response to Type I Interferon in Patients With DNASE1L3 Variants: Report of Three Cases","authors":"Stefano Volpi ,&nbsp;Maria L. Angelotti ,&nbsp;Giulia Palazzini ,&nbsp;Giulia Antonelli ,&nbsp;Fiammetta Ravaglia ,&nbsp;Federica Garibotto ,&nbsp;Anna Agrusti ,&nbsp;Alice Grossi ,&nbsp;Alberto Magnasco ,&nbsp;Giovanni M. Rossi ,&nbsp;Carmela Errichiello ,&nbsp;Francesco Peyronel ,&nbsp;Elisa Buti ,&nbsp;Lorenzo Lodi ,&nbsp;Gian M. Ghiggeri ,&nbsp;Paola Romagnani ,&nbsp;Augusto Vaglio","doi":"10.1053/j.ajkd.2024.05.014","DOIUrl":"10.1053/j.ajkd.2024.05.014","url":null,"abstract":"<div><div>DNASE1L3 is an extracellular nuclease that digests chromatin released from apoptotic cells. <em>DNASE1L3</em> 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 <em>DNASE1L3</em> variants is poorly characterized. Herein, we describe the clinical course of 3 children with monogenic SLE due to <em>DNASE1L3</em> 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.</div></div>","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":"84 6","pages":"Pages 791-797"},"PeriodicalIF":9.4,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141764749","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}
引用次数: 0
Sex and the Relationship Between Cardiometabolic Risk Factors and Estimated GFR Decline: A Population-Based Cohort Study 性别与心脏代谢风险因素和估计 GFR 下降之间的关系:一项基于人群的队列研究。
IF 9.4 1区 医学
American Journal of Kidney Diseases Pub Date : 2024-07-23 DOI: 10.1053/j.ajkd.2024.05.007
Michael K. Sullivan , Jennifer S. Lees , Brenda M. Rosales , Rachel Cutting , Melanie L. Wyld , Mark Woodward , Angela C. Webster , Patrick B. Mark , Nicole De La Mata
{"title":"Sex and the Relationship Between Cardiometabolic Risk Factors and Estimated GFR Decline: A Population-Based Cohort Study","authors":"Michael K. Sullivan ,&nbsp;Jennifer S. Lees ,&nbsp;Brenda M. Rosales ,&nbsp;Rachel Cutting ,&nbsp;Melanie L. Wyld ,&nbsp;Mark Woodward ,&nbsp;Angela C. Webster ,&nbsp;Patrick B. Mark ,&nbsp;Nicole De La Mata","doi":"10.1053/j.ajkd.2024.05.007","DOIUrl":"10.1053/j.ajkd.2024.05.007","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Rationale &amp; Objective&lt;/h3&gt;&lt;div&gt;Females have a higher prevalence of chronic kidney disease (CKD) than males but are less likely to be treated with kidney replacement therapy (KRT). We studied the interaction between sex and the association of cardiometabolic risk factors for the decline in kidney function over time.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Study Design&lt;/h3&gt;&lt;div&gt;A population-based cohort study.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Setting &amp; Participants&lt;/h3&gt;&lt;div&gt;1,127,731 adults living in Wales, United Kingdom, within the Secure Anonymised Information Linkage Databank.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Exposure&lt;/h3&gt;&lt;div&gt;Sex and risk factors including age, estimated glomerular filtration rate (eGFR), cardiometabolic conditions, smoking, and socioeconomic deprivation. These risk factors were defined using primary care records.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Outcome&lt;/h3&gt;&lt;div&gt;The yearly declines in eGFR and the risk of incident kidney failure defined as long-term KRT and/or sustained eGFR&lt;!--&gt; &lt;!--&gt;&lt;&lt;!--&gt; &lt;!--&gt;15&lt;!--&gt; &lt;!--&gt;mL/min/1.73&lt;!--&gt; &lt;!--&gt;m&lt;sup&gt;2&lt;/sup&gt;.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Analytical Approach&lt;/h3&gt;&lt;div&gt;Linear mixed effects models and Cox proportional hazards analysis.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;div&gt;The average decline in eGFR at age&lt;!--&gt; &lt;!--&gt;≤73 years was equal in males and females. After age 73 years, eGFR decline was faster in males than females, particularly for males with heart failure (males&lt;!--&gt; &lt;!--&gt;−1.22&lt;!--&gt; &lt;!--&gt;mL/min/1.73&lt;!--&gt; &lt;!--&gt;m&lt;sup&gt;2&lt;/sup&gt; per year [95% CI, −1.25 to&lt;!--&gt; &lt;!--&gt;−1.20] vs females&lt;!--&gt; &lt;!--&gt;−0.87&lt;!--&gt; &lt;!--&gt;mL/min/1.73&lt;!--&gt; &lt;!--&gt;m&lt;sup&gt;2&lt;/sup&gt; per year [95% CI, −0.89 to&lt;!--&gt; &lt;!--&gt;−0.85]) and current smokers (males&lt;!--&gt; &lt;!--&gt;−1.58&lt;!--&gt; &lt;!--&gt;mL/min/1.73&lt;!--&gt; &lt;!--&gt;m&lt;sup&gt;2&lt;/sup&gt; per year [95% CI, −1.60 to&lt;!--&gt; &lt;!--&gt;−1.55] vs females&lt;!--&gt; &lt;!--&gt;−1.27&lt;!--&gt; &lt;!--&gt;mL/min/1.73&lt;!--&gt; &lt;!--&gt;m&lt;sup&gt;2&lt;/sup&gt; per year [95% CI, −1.29 to&lt;!--&gt; &lt;!--&gt;−1.25]). Socioeconomic deprivation was one of the most impactful risk factors on eGFR decline among females aged&lt;!--&gt; &lt;!--&gt;&gt;73 years, whereas cardiometabolic risk factors were more important among males. Older females at baseline were less likely to develop incident kidney failure than older males (&lt;em&gt;P&lt;/em&gt; for age&lt;!--&gt; &lt;!--&gt;&lt;&lt;!--&gt; &lt;!--&gt;0.001).&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Limitations&lt;/h3&gt;&lt;div&gt;Study of people who were almost exclusively White and who had blood laboratory test data. Reliance on creatinine-based eGFR. Albuminuria and body mass index data were incomplete.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Conclusions&lt;/h3&gt;&lt;div&gt;The eGFR decline was faster in males than in females, especially in the setting of heart failure and smoking. Socioeconomic deprivation was an important risk factor associated with eGFR decline, particularly for females. further work is required to explore less well-recognized risk factors, but these findings may inform clinical management strategies of CKD overall and within sex-specific groups.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Plain-Language Summary&lt;/h3&gt;&lt;div&gt;Kidney function is known to decline at a faster rate among males ","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":"84 6","pages":"Pages 731-741.e1"},"PeriodicalIF":9.4,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141756535","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
New Insights into Vitamin D Metabolism in Kidney Disease and Transplant 肾脏疾病和器官移植中维生素 D 代谢的新见解。
IF 9.4 1区 医学
American Journal of Kidney Diseases Pub Date : 2024-07-22 DOI: 10.1053/j.ajkd.2024.06.003
Charles Ginsberg , Joachim H. Ix
{"title":"New Insights into Vitamin D Metabolism in Kidney Disease and Transplant","authors":"Charles Ginsberg ,&nbsp;Joachim H. Ix","doi":"10.1053/j.ajkd.2024.06.003","DOIUrl":"10.1053/j.ajkd.2024.06.003","url":null,"abstract":"","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":"84 4","pages":"Pages 400-402"},"PeriodicalIF":9.4,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0272638624008400/pdfft?md5=a41dd097a80b827684c2892548e01469&pid=1-s2.0-S0272638624008400-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141750872","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluation and Management of Resistant Hypertension: Core Curriculum 2024 耐药性高血压的评估和管理:核心课程 2024.
IF 9.4 1区 医学
American Journal of Kidney Diseases Pub Date : 2024-07-20 DOI: 10.1053/j.ajkd.2024.04.009
Jennifer L. Cluett , Jeffrey H. William
{"title":"Evaluation and Management of Resistant Hypertension: Core Curriculum 2024","authors":"Jennifer L. Cluett ,&nbsp;Jeffrey H. William","doi":"10.1053/j.ajkd.2024.04.009","DOIUrl":"10.1053/j.ajkd.2024.04.009","url":null,"abstract":"<div><p>Resistant hypertension is defined as blood pressure above goal despite confirmed adherence to 3 first-line antihypertensive agents or when blood pressure is controlled with 4 or more medications at maximal or maximally tolerated doses. In addition to meeting these criteria, identifying patients with true resistant hypertension requires both accurate in-office blood pressure measurement as well as excluding white coat effects through out-of-office blood pressure measurements. Patients with resistant hypertension are at higher risk for adverse cardiovascular events and are more likely to have a potentially treatable secondary cause contributing to their hypertension. Effective treatment of resistant hypertension includes ongoing lifestyle modifications and collaboration with patients to detect and address barriers to optimal medication adherence. Pharmacologic treatment should prioritize optimizing first-line, once daily, longer acting medications followed by the stepwise addition of second-, third-, and fourth-line agents as tolerated. Physicians should systematically evaluate for and address any underlying secondary causes. A coordinated, multidisciplinary team approach including clinicians with experience in treating resistant hypertension is essential. New treatment options, including both pharmacologic and device-based therapies, have recently been approved, and more are in the pipeline; their optimal role in the management of resistant hypertension is an area of ongoing research.</p></div>","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":"84 3","pages":"Pages 374-387"},"PeriodicalIF":9.4,"publicationDate":"2024-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0272638624007935/pdfft?md5=20bb34f3c168434ee3e8f3e3462314a6&pid=1-s2.0-S0272638624007935-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141733304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Association of Plasma and Urine Uromodulin With Cardiovascular Disease in Persons With Hypertension and CKD 高血压和慢性肾脏病患者血浆和尿液中尿嘧啶与心血管疾病的关系
IF 9.4 1区 医学
American Journal of Kidney Diseases Pub Date : 2024-07-19 DOI: 10.1053/j.ajkd.2024.05.012
Jesse C. Ikeme MD , Rebecca Scherzer PhD , Pranav S. Garimella MBBS, MPH , Stein I. Hallan MD, PhD , Ronit Katz DPhil , Michelle M. Estrella MD, MHS , Joachim H. Ix MD, MAS , Michael G. Shlipak MD, MPH
{"title":"The Association of Plasma and Urine Uromodulin With Cardiovascular Disease in Persons With Hypertension and CKD","authors":"Jesse C. Ikeme MD ,&nbsp;Rebecca Scherzer PhD ,&nbsp;Pranav S. Garimella MBBS, MPH ,&nbsp;Stein I. Hallan MD, PhD ,&nbsp;Ronit Katz DPhil ,&nbsp;Michelle M. Estrella MD, MHS ,&nbsp;Joachim H. Ix MD, MAS ,&nbsp;Michael G. Shlipak MD, MPH","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":"84 6","pages":"Pages 799-802"},"PeriodicalIF":9.4,"publicationDate":"2024-07-19","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}
引用次数: 0
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