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Exercise Prehabilitation in Kidney Transplant Candidates: Insights From the FRAILMar Trial 肾移植候选人的运动康复:来自frrailmar试验的见解。
IF 8.2 1区 医学 Q1 UROLOGY & NEPHROLOGY Pub Date : 2025-09-19 DOI: 10.1053/j.ajkd.2025.08.007
Carly Weaver , Babak J. Orandi , Mara McAdams-DeMarco
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引用次数: 0
Nephrologist Perspectives on Using Telemedicine During In-Center Hemodialysis: A Qualitative Study 肾内科医生在中心血液透析中使用远程医疗的观点:一项定性研究。
IF 8.2 1区 医学 Q1 UROLOGY & NEPHROLOGY Pub Date : 2025-09-19 DOI: 10.1053/j.ajkd.2025.08.008
Trenton M. Haltom , Susie Q. Lew , Wolfgang C. Winkelmayer , Glenn M. Chertow , Allison Jaure , Kevin F. Erickson

Rationale & Objective

During the coronavirus disease 2019 (COVID-19) pandemic, the US government expanded originating telemedicine sites to include outpatient dialysis units. For the first time, nephrology care providers (nephrologists and affiliated advanced practice providers) across the United States could use telemedicine in lieu of face-to-face visits to deliver care for patients receiving in-center hemodialysis. In this study, we describe perspectives and experiences of nephrologists using telemedicine to deliver in-center hemodialysis care.

Study Design

Qualitative research study.

Setting & Participants

Nephrologists in 3 health systems who used telemedicine for in-center hemodialysis during the COVID-19 pandemic.

Analytical Approach

We conducted 16 semistructured telephone interviews. Transcripts were thematically analyzed.

Results

We identified 5 themes and respective subthemes: maintaining safety and quality of care (making up missed appointments, fostering continuity of care, addressing urgent medical issues); maximizing efficiency (reducing nephrologists' travel burden, allowing for flexibility); operational complexities (dependence on facility resources; challenges coordinating with facility staff; modifying visit duration/length); diminished depth of clinical encounters (excess formality, constrained communication, incomplete physical examinations); supporting confidence in telemedicine (complementing in-person care, accounting for patient preferences, requiring reimbursement).

Limitations

The transferability of the findings outside of an urban academic setting is uncertain.

Conclusions

Although nephrologists encountered operational (both technical and personal level) challenges such as communication constraints when using telemedicine for in-center hemodialysis care, they reported improvements in aspects of care quality and enhanced efficiency. These findings inform the potential use of a hybrid in-center hemodialysis care delivery model in which telemedicine supplements in-person visits.

Plain-Language Summary

We describe nephrologists’ perspectives and experiences with delivery of care using telemedicine at dialysis facilities during the COVID-19 pandemic. The nephrologists participating in this study suggested telemedicine is beneficial to maintaining patient safety and quality of care and maximizing physicians’ efficiency. Nephrologists experienced barriers given operational complexities such as technical and personnel support from dialysis facilities. Clinical encounters were also less personal and more formal. Nevertheless, the experiences of participating nephrologists suggest that a hybrid care model with both in-person and telemedicine visits may help maintain high-quality care while increasing the
理由和目的:在2019年冠状病毒病(COVID-19)大流行期间,美国政府扩大了原始远程医疗站点,将门诊透析单元包括在内。美国各地的肾病护理提供者(肾病学家和附属高级实践提供者)首次可以使用远程医疗代替面对面访问,为接受中心血液透析的患者提供护理。在本研究中,我们描述了肾病学家使用远程医疗提供中心血液透析护理的观点和经验。研究设计:定性研究。背景和参与者:在COVID-19大流行期间使用远程医疗进行中心血液透析的三个卫生系统的肾病学家。分析方法:我们进行了16次半结构化电话访谈。对转录本进行主题分析。结果:我们确定了五个主题和各自的子主题:维护安全和护理质量(弥补错过的预约,促进护理的连续性,解决紧急医疗问题);效率最大化(减少肾病专家的旅行负担,允许灵活性);操作复杂性(对设施资源的依赖;与设施工作人员协调的挑战;修改访问时间/长度);临床接触深度减少(过于拘谨、沟通受限、体检不完整);支持对远程医疗的信心(补充现场护理、考虑患者偏好、要求报销)。局限性:研究结果在城市学术环境之外的可转移性是不确定的。结论:尽管肾病学家在使用远程医疗进行中心血液透析护理时遇到了通信限制等操作(技术和个人层面)挑战,但他们报告了在护理质量和效率方面的改进。这些发现提示了一种混合中心血液透析护理交付模式的潜在用途,在这种模式中,远程医疗补充了亲自就诊。
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引用次数: 0
Infectious Tropical Diseases That Acutely Affect the Kidneys: What Physicians and Health Care Workers in Nonendemic Countries Should Know 急性影响肾脏的传染性热带病:非流行国家的医生和卫生保健工作者应该知道的。
IF 8.2 1区 医学 Q1 UROLOGY & NEPHROLOGY Pub Date : 2025-09-19 DOI: 10.1053/j.ajkd.2025.07.011
Emmanuel A. Burdmann, Lucia C. Andrade
The tropics, a large and heavily inhabited area, are characterized by deep contrasts in sociopolitical, economic, and social development, which are reflected in the epidemiology of diseases. Common noncommunicable chronic diseases, such as diabetes and hypertension, coexist with acute infectious tropical diseases. Global warming, immigration, tourism, and commercial travel have helped spread tropical diseases to temperate zones by facilitating the spread of vectors, the infection of animal reservoirs, and the introduction of contaminated individuals into nonendemic areas. Infectious tropical diseases are currently a significant global public health concern worldwide. Their timely diagnosis and adequate treatment might be a considerable challenge to health workers from nontropical areas because most share very similar initial clinical presentations. It is essential that health care teams worldwide can recognize and treat a broad spectrum of tropical diseases. Several of these infectious tropical diseases can affect the kidneys, acutely or chronically. In this review, we explore and discuss the epidemiology, pathophysiological mechanisms, and clinical aspects of the most relevant infectious tropical diseases that can be associated with acute kidney injury. Such diseases include, but are not limited to, dengue, yellow fever, chikungunya, malaria, leptospirosis, and scrub typhus.
热带是一个人口稠密的大地区,其特点是社会政治、经济和社会发展的深刻差异,这反映在疾病的流行病学上。常见的非传染性慢性病,如糖尿病和高血压,与急性传染性热带病共存。全球变暖、移民、旅游和商业旅行通过促进病媒的传播、动物宿主的感染以及将受污染的个体引入非流行地区,帮助将热带病传播到温带。传染性热带病目前是世界范围内一个重大的全球公共卫生问题。它们的及时诊断和适当治疗可能对非热带地区的卫生工作者构成相当大的挑战,因为它们大多数具有非常相似的初始临床表现。至关重要的是,世界各地的卫生保健团队能够识别和治疗广泛的热带疾病。这些传染性热带病中的一些可急性或慢性影响肾脏。在这篇综述中,我们探讨和讨论与急性肾损伤相关的最相关的传染性热带病的流行病学、病理生理机制和临床方面。这些疾病包括但不限于登革热、黄热病、基孔肯雅热、疟疾、钩端螺旋体病和恙虫病。
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引用次数: 0
Living Kidney Donors’ Residential Neighborhoods: Driver or Barrier of Postdonation Follow-Up? 活体肾供者的居住小区:捐献后随访的驱动因素还是障碍?
IF 8.2 1区 医学 Q1 UROLOGY & NEPHROLOGY Pub Date : 2025-09-18 DOI: 10.1053/j.ajkd.2025.06.020
Yiting Li , Gayathri Menon , Byoungjun Kim , Mario P. DeMarco , Babak J. Orandi , Sunjae Bae , Wenbo Wu , Allan B. Massie , Macey L. Levan , Jonathan C. Berger , Dorry L. Segev , Mara A. McAdams-DeMarco
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引用次数: 0
IgG3κ Monoclonal Membranous Nephropathy Associated With Acquired Lecithin Cholesterol Acyltransferase Deficiency IgG3κ单克隆膜性肾病与获得性卵磷脂胆固醇酰基转移酶缺乏相关。
IF 8.2 1区 医学 Q1 UROLOGY & NEPHROLOGY Pub Date : 2025-09-18 DOI: 10.1053/j.ajkd.2025.06.021
Lihong Bu , Jae H. Lee , Michael M. Quigley , Reza Elahimehr , Jason D. Theis , Robert L. Perrizo , Surendra Dasari , Timothy J. Garrett , Samih H. Nasr
Lecithin cholesterol acyltransferase (LCAT) deficiency, inherited or acquired, is characterized by markedly low plasma high-density lipoprotein (HDL) cholesterol levels and increased unesterified cholesterol. We report a case of an elderly patient with persistently very low HDL and proteinuria. Serum cholesteryl esters were markedly low, and kidney biopsy revealed diffuse global glomerular lipid deposition, classic for LCAT deficiency, whereas genetic testing for variants associated with LCAT deficiency was negative. Kidney biopsy also showed concomitant monoclonal (IgG3κ) membranous nephropathy (MN). Proteomic analysis of glomeruli detected spectra for LCAT and serum amyloid P (SAP), suggesting that LCAT could be a target antigen in monoclonal MN with SAP enrichment and associated LCAT deficiency. Furthermore, lipidomic analysis revealed an accumulation of phosphatidylcholines and sphingomyelin and a decrease in ceramides. The patient was treated with daratumumab, and at 22 months follow-up his proteinuria was decreased while HDL level remained low.
卵磷脂胆固醇酰基转移酶(LCAT)缺乏症,可遗传或获得,其特征是血浆高密度脂蛋白(HDL)-胆固醇水平明显降低,未酯化胆固醇升高。我们报告一例老年患者持续非常低的高密度脂蛋白和蛋白尿。血清胆固醇酯明显低,肾活检显示弥漫性肾小球脂质沉积,典型的LCAT缺乏,而与LCAT缺乏相关的变异基因检测呈阴性。肾活检同时显示单克隆(IgG3κ)膜性肾病。肾小球蛋白质组学分析检测了LCAT和血清淀粉样蛋白P (SAP)的光谱,表明LCAT可能是单克隆MN中SAP富集和相关LCAT缺乏的靶抗原。此外,脂质组学分析显示磷脂酰胆碱和鞘磷脂的积累和神经酰胺的减少。患者接受达拉单抗治疗,在22个月的随访中,他的蛋白尿减少,而HDL水平仍然很低。
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引用次数: 0
Monoallelic IFT140 Variants Causing Childhood-Onset Autosomal Dominant Polycystic Kidney Disease 单等位基因IFT140变异导致儿童期常染色体显性多囊肾病
IF 8.2 1区 医学 Q1 UROLOGY & NEPHROLOGY Pub Date : 2025-09-17 DOI: 10.1053/j.ajkd.2025.08.006
Joshua D. Griffiths , Grace Ehidiamhen , Sergio Camilo Lopez-Garcia , Rachel Hubbard , Jackie Cook , Albert C.M. Ong
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.
IFT140是鞭毛内转运复合物a的一个组成部分,参与蛋白质向初级纤毛的逆行转运。单等位基因IFT140变异已被确定为成人发病的常染色体显性多囊肾病(ADPKD)的一个重要原因,占流行病例的2%。ADPKD-IFT140患者通常在晚年出现少量大囊肿,很少发生肾衰竭。在这里,我们报告了3例遗传解决的ADPKD-IFT140病例,诊断于儿童期或婴儿期,来自3个不相关的家系,发病年龄从子宫到14岁不等。每个家系都有不同的家族性IFT140变异,全基因组测序未发现第二个ADPKD基因变异的证据。所有3名儿童肾功能和血压正常,尽管1名儿童最初在子宫内表现为高囊肿负担,DMSA扫描显示功能受损。尽管有阴性家族史,一级亲属级联筛查发现以前未确诊的ADPKD具有成人发病ADPKD- ift140的典型特征。我们的研究结果强调需要考虑IFT140作为儿童早发性ADPKD的潜在原因,并扩大ADPKD-IFT140的表型谱。
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引用次数: 0
Perceptions About Influenza and COVID-19 Vaccines Among People With CKD: Findings From the Chronic Renal Insufficiency Cohort (CRIC) Study 慢性肾病患者对流感和COVID-19疫苗的认知:来自慢性肾功能不全队列(CRIC)研究的发现
IF 8.2 1区 医学 Q1 UROLOGY & NEPHROLOGY Pub Date : 2025-09-17 DOI: 10.1053/j.ajkd.2025.07.008
Guangchen Zou , Bernard G. Jaar , James P. Lash , Jing Chen , Jeanne B. Charleston , Arksarapuk Jittirat , Dipal M. 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
<div><h3>Rationale & Objective</h3><div>Vaccine 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.</div></div><div><h3>Study Design</h3><div>Cross-sectional survey.</div></div><div><h3>Setting & Participants</h3><div>A subset of participants from the Chronic Renal Insufficiency Cohort (CRIC) Study, recruited from 3 study sites.</div></div><div><h3>Exposure</h3><div>Participants’ 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.</div></div><div><h3>Outcome</h3><div>Influenza and COVID-19 vaccine hesitancy, defined as being uncertain about or not planning to receive a future dose of these vaccines.</div></div><div><h3>Analytical Approach</h3><div>Responses were measured on a 5-point Likert scale (1 = strongly disagree, 2 = disagree, 3 = neutral, 4 = agree, 5 = strongly agree). Linear regression models were used to analyze differences in mean Likert scale scores between participants with and without vaccine hesitancy.</div></div><div><h3>Results</h3><div>Between 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 (eg, the vaccine causes influenza; ΔMean Likert scale, 1.25 [95% CI, 0.96-1.55]) and vaccine skepticism (eg, benefits of the influenza vaccine are exaggerated, 0.96 [95% CI, 0.65-1.26]). Perceived benefits were negatively associated with vaccine hesitancy (eg, 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.</div></div><div><h3>Limitations</h3><div>The study population consisted of individuals with CKD who were enrolled in a cohort study and voluntarily responded to the survey.</div></div><div><h3>Conclusions</h3><div>Among 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.</div></div><div><h3>Plain-Language Summary</h3><div>People with chronic kidney disease (CKD) are at higher risk for infections, but some are hesitant to get vaccines. This study surveyed 278 CKD patients to understand why some avoid flu and COVID-19 vaccines. The study found about 17% were hesitant ab
理由与目的慢性肾脏疾病(CKD)患者接种疫苗的情况并不理想。了解与疫苗犹豫有关的观念有助于为旨在解决这些问题的规划提供信息。研究设计横断面调查。背景和参与者:来自慢性肾功能不全队列(CRIC)研究的一组参与者,从三个研究地点招募。根据健康信念模型,参与者对流感和COVID-19感染风险、疫苗的益处和危害、疫苗怀疑、获取障碍和行动线索的看法。结果流感和COVID-19疫苗犹豫,定义为不确定或不计划接种这些疫苗的未来剂量。分析方法采用李克特5分量表(1 =非常同意,2 =同意,3 =中立,4 =不同意,5 =非常不同意)来测量反应。使用线性回归模型分析有和没有疫苗犹豫的参与者的平均李克特量表得分的差异。结果在2022年7月至2023年6月期间,278名CRIC参与者完成了调查,其中47人(16.9%)和46人(16.8%)分别有流感和COVID-19疫苗犹豫。线性回归模型确定了与疫苗犹豫相关的关键认知,包括疫苗的感知危害(例如,疫苗导致流感;ΔMean李克特量表1.25 [95% CI, 0.96至1.55])和疫苗怀疑(例如,流感疫苗的益处被夸大了;0.96 [95% CI, 0.65至1.26])。感知益处与疫苗犹豫呈负相关(例如,流感疫苗预防严重疾病;-0.93[-1.23至-0.62])。超过40%的人认为他们没有患流感的风险,但这种看法与疫苗犹豫无关(0.02[-0.35至0.40])。这些发现与COVID-19总体上是一致的,尽管对疫苗的怀疑更为普遍,并且与疫苗犹豫更密切相关。研究人群由CKD患者组成,他们参加了一项队列研究,并自愿接受调查。结论在CKD患者中,对疫苗危害的认知和对疫苗的怀疑是导致疫苗犹豫的重要因素。通过量身定制的患者教育举措,改进准确疫苗信息的传播,可能会提高这一人群的疫苗接种率。
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引用次数: 0
Targeting Inflammation in CKD 针对CKD炎症。
IF 8.2 1区 医学 Q1 UROLOGY & NEPHROLOGY Pub Date : 2025-09-16 DOI: 10.1053/j.ajkd.2025.06.019
Kristen L. Nowak, Michel Chonchol
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 15 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 anticytokine therapies.
由先天免疫系统激活引发的慢性全身性炎症是慢性肾脏疾病及相关动脉粥样硬化和心血管疾病的关键驱动因素。在过去的15年里,直接靶向炎症通路作为一种新的方法出现,正在积极研究中,以降低慢性肾脏疾病患者动脉粥样硬化性心血管疾病的风险,并减缓肾脏疾病的进展。近期和正在进行的肾脏疾病患者的临床试验包括靶向白介素-1和白介素-1受体、白介素-6和白介素-6受体、NLRP3炎症小体、核因子红细胞2相关因子2和抗衰老药物。在我们等待正在进行的3期临床试验结果的同时,抗细胞因子疗法的研究和临床实施仍面临许多挑战和考虑因素。
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引用次数: 0
Contraceptive Use and Reproductive Health in Women With CKD: A Qualitative Study of Nephrologists in the United States 慢性肾病妇女的避孕使用和生殖健康:美国肾病学家的定性研究。
IF 8.2 1区 医学 Q1 UROLOGY & NEPHROLOGY Pub Date : 2025-09-16 DOI: 10.1053/j.ajkd.2025.07.007
Nedas Semaska , Rachael Nolan , Silvi Shah
<div><h3>Rationale & Objective</h3><div>Women 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 explored nephrologists’ perspectives on contraception and reproductive health management in women with CKD.</div></div><div><h3>Study Design</h3><div>Qualitative study using semistructured interviews.</div></div><div><h3>Setting & Participants</h3><div>Interviews were conducted with 25 adult general and transplant nephrologists from both academic and private practice settings across the United States.</div></div><div><h3>Analytical Approach</h3><div>Virtual 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.</div></div><div><h3>Results</h3><div>The following 4 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).</div></div><div><h3>Limitations</h3><div>Generalizability may be limited due to participants being predominantly early-career academic nephrologists.</div></div><div><h3>Conclusions</h3><div>Key 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.</div></div><div><h3>Plain-Language Summary</h3><div>Women with kidney disease can face challenges with fertility, sexual health, and menstruation. Pregnancy is often riskier for these women due to complications such as high blood pressure and preterm birth. Despite these risks, the use of birth control among women with kidney disease remains low. This study looked at the experiences of nephrologists in providing contraception and reproductive health counseling for their female patients. The interviews revealed that many nephrolo
理由与目的慢性肾脏疾病(CKD)妇女在怀孕期间面临较高的风险,但避孕药具的使用和生殖健康咨询仍然很低。经常与患者保持纵向关系的肾病学家可能会很好地参与这些讨论。本研究旨在探讨肾病学家对CKD妇女避孕和生殖健康管理的看法。研究设计采用半结构化访谈进行定性研究。环境和参与者访谈了来自美国各地学术和私人执业环境的25名成年全科和移植肾病学家。分析方法虚拟访谈被记录、转录,并使用专题分析进行分析,直到专题饱和。基于理论的方法指导编码和识别与提供者经验和观点相关的关键主题。结果确定了以下四个主题及其子主题:(1)医生对避孕与生殖健康讨论的不适(依赖患者发起、咨询犹豫、不确定实践范围);(2)关于避孕和生殖健康的培训和指导方针不足(缺乏正式指导方针,接触有限,依赖自学);(3)在避孕药具使用和生殖健康方面缺乏跨学科协调(以病人为中介,护理分散);(4)以患者为中心的整体护理需求(全面、持续、共同决策)。局限性:由于参与者主要是早期职业的学术肾病学家,通用性可能受到限制。结论:慢性肾病妇女避孕药具使用和生殖健康管理的主要障碍包括由于接触和培训有限导致的提供者不适,缺乏明确的指导方针,以及分散的护理。尽管存在这些挑战,提供者认识到整体的重要性,以病人为中心的护理。这些发现强调需要改善避孕咨询,以支持适当的避孕使用和共同决策的肾脏疾病患者的生殖健康。
{"title":"Contraceptive Use and Reproductive Health in Women With CKD: A Qualitative Study of Nephrologists in the United States","authors":"Nedas Semaska ,&nbsp;Rachael Nolan ,&nbsp;Silvi Shah","doi":"10.1053/j.ajkd.2025.07.007","DOIUrl":"10.1053/j.ajkd.2025.07.007","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Rationale &amp; Objective&lt;/h3&gt;&lt;div&gt;Women 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 explored nephrologists’ perspectives on contraception and reproductive health management in women with CKD.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Study Design&lt;/h3&gt;&lt;div&gt;Qualitative study using semistructured interviews.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Setting &amp; Participants&lt;/h3&gt;&lt;div&gt;Interviews were conducted with 25 adult general and transplant nephrologists from both academic and private practice settings across the United States.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Analytical Approach&lt;/h3&gt;&lt;div&gt;Virtual 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.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;div&gt;The following 4 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).&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Limitations&lt;/h3&gt;&lt;div&gt;Generalizability may be limited due to participants being predominantly early-career academic nephrologists.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Conclusions&lt;/h3&gt;&lt;div&gt;Key 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.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Plain-Language Summary&lt;/h3&gt;&lt;div&gt;Women with kidney disease can face challenges with fertility, sexual health, and menstruation. Pregnancy is often riskier for these women due to complications such as high blood pressure and preterm birth. Despite these risks, the use of birth control among women with kidney disease remains low. This study looked at the experiences of nephrologists in providing contraception and reproductive health counseling for their female patients. The interviews revealed that many nephrolo","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":"87 1","pages":"Pages 7-17.e1"},"PeriodicalIF":8.2,"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}
引用次数: 0
Quantifying APOL1, Human Leukocyte Antigen, and Other Genetic Contributions to Unexplained Kidney Failure 定量APOL1、人类白细胞抗原和其他遗传因素对不明原因肾衰竭的影响。
IF 8.2 1区 医学 Q1 UROLOGY & NEPHROLOGY Pub Date : 2025-09-16 DOI: 10.1053/j.ajkd.2025.07.005
Omid Sadeghi-Alavijeh , Melanie M.Y. Chan , Konstantinos Tzoumkas , Gabriel T. Doctor , Daniel P. Gale
<div><h3>Rationale & Objective</h3><div>Unexplained 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.</div></div><div><h3>Study Design</h3><div>Genomic analyses conducted using whole-genome sequencing (WGS) were reviewed by a multidisciplinary team that identified candidate pathogenic variants. A case-control study was implemented for single and structural variants to perform gene-based and polygenic risk score (PRS) association testing.</div></div><div><h3>Setting & Participants</h3><div>The study recruited 218 patients with uKF onset before age 50 years from the United Kingdom’s 100,000 Genomes Project. Association analysis was performed in 180 uKF cases that remained unsolved after clinical analysis and constituted the nonmonogenic uKF cohort. 26,373 control subjects were derived from the unaffected relatives of nonrenal probands.</div></div><div><h3>Exposures</h3><div>Candidate variants in 537 genes were assessed at a structural and single-variant level in the 218 recruited patients, as were high-risk <em>APOL1</em> genotypes and PRSs for chronic kidney disease and various glomerular diseases.</div></div><div><h3>Outcomes</h3><div>The primary outcomes were establishing a genetic diagnosis and the associations between genetic findings, age, family history, and ancestry.</div></div><div><h3>Analytical Approach</h3><div>Candidate variants were reviewed for pathogenicity. Gene-based and structural variant analyses and high-risk <em>APOL1</em> genotype assessments were performed. PRSs and post hoc HLA associations were also investigated.</div></div><div><h3>Results</h3><div>Monogenic 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 at the age of 36 years. Diagnoses were less frequent in patients aged ≥36 years, 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 <em>APOL1</em> genotypes were significantly more common in those with uKF (52% vs 8.4% in those without uKF; <em>P</em> < 0.001). An increased steroid-sensitive nephrotic syndrome PRS was observed in those with high-risk <em>APOL1</em> genotypes and uKF, partly due to differences at <em>HLA-DQB1∗03:19</em>.</div></div><div><h3>Limitations</h3><div>Potential limitations include the small sizes of subgroups and use of short-read WGS.</div></div><div><h3>Conclusions</h3><div>WGS yielded a monogenic diagnosis in 17% of patients with uKF, with no additional solved cases arising from the case-control analysis. These findings underscore <em>APOL1</em>’s role in those with recent African ancestry and suggest a genetic architecture distinct from common chronic kidney disease
原因与目的不明原因肾衰竭(uKF)影响了15%需要肾脏替代治疗的个体。缺乏明确的诊断造成了复发、家族风险和试验资格的不确定性。这项研究试图确定uKF的遗传变异。研究设计基因组分析使用全基因组测序(WGS)进行,由一个多学科小组审查,确定候选致病变异。对单基因和结构变异进行病例对照研究,进行基于基因和多基因的风险评分关联检测。背景和参与者:该研究从英国10万人基因组计划中招募了218名50岁之前患有uKF的患者。对临床分析未解决的180例uKF患者进行关联分析,组成非单基因uKF队列(NM-uKF)。26,373例对照来自非肾先证者的未受影响亲属。在218名招募的患者中,537个基因的候选变异在结构和单变异水平上进行了评估,这些基因是慢性肾脏疾病和各种肾小球肾炎的高风险APOL1基因型和多基因风险评分。主要结果是建立遗传诊断以及遗传结果、年龄、家族史和祖先之间的关联。分析方法对候选变异进行致病性审查。进行基因分析和结构变异分析以及APOL1高危基因型评估。多基因风险评分和事后HLA关联也被调查。结果218例患者中有38例(17%)使用WGS通过100,000基因组计划的临床分支进行了单基因诊断。uKF发病中位数为36年。无论家族史如何,36岁及以上的患者诊断较少。3例无家族史的老年患者有IV型胶原蛋白基因的致病变异。在最近非洲血统的个体中,高危APOL1基因型在uKF患者中更为常见(52% vs. 8.4%, P<0.001)。APOL1高危基因型和uKF患者的类固醇敏感肾病综合征(SSNS)多基因风险评分升高,部分原因是HLA-DQB1*03:19的差异。局限性潜在的局限性包括子组规模小和使用短读WGS。结论:在17%的uKF患者中,swgs产生了单基因诊断,病例对照分析中没有出现额外的解决病例。这些发现强调了APOL1在最近非洲血统人群中的作用,并提示了一种不同于常见慢性肾脏疾病的遗传结构。
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American Journal of Kidney Diseases
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