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Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene 家族性幼年高尿酸血症肾病:在一个 UMOD 基因末端总缺失的家族中重新审视 SLC8A1 基因
IF 2 4区 医学 Q2 UROLOGY & NEPHROLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.nefro.2023.09.007

Autosomal dominant tubulointerstitial kidney disease (ADTKD) comprises a heterogeneous group of rare hereditary kidney diseases characterized by family history of progressive chronic kidney disease (CKD) with bland urine sediment, absence of significant proteinuria and normal or small-sized kidneys. Current diagnostic criteria require identification of a pathogenic variant in one of five genes – UMOD, MUC1, REN, HNF1β, SEC61A1. The most prevalent form of ADTKD is uromodulin-associated kidney disease (ADTKD-UMOD).

Genetic study of a Portuguese family diagnosed with familial juvenile hyperuricemic nephropathy (FJHN), one of the nosological entities in the spectrum of ADTKD, revealed a previously unreported large deletion in UMOD encompassing the entire terminal exon, which strictly cosegregated with CKD and hyperuricemia/gout, establishing the primary diagnosis of ADTKD-UMOD; as well as an ultra-rare nonsense SLC8A1 variant cosegregating with the UMOD deletion in patients that consistently exhibited an earlier onset of clinical manifestations.

Since the terminal exon of UMOD does not encode for any of the critical structural domains or amino acid residues of mature uromodulin, the molecular mechanisms underlying the pathogenicity of its deletion are unclear and require further research.

The association of the SLC8A1 locus with FJHN was first indicated by the results of a genome-wide linkage analysis in several multiplex families, but those data have not been subsequently confirmed. Our findings in this family revive that hypothesis.

常染色体显性肾小管间质性肾病(ADTKD)是一组异质性的罕见遗传性肾病,其特点是家族史中存在进行性慢性肾病(CKD),尿沉渣平淡,无明显蛋白尿,肾脏大小正常或较小。目前的诊断标准要求鉴定出 UMOD、MUC1、REN、HNF1β 和 SEC61A1 五个基因中的一个致病变体。最常见的 ADTKD 是尿调节蛋白相关性肾病(ADTKD-UMOD)。对一个被诊断为家族性幼年高尿酸血症肾病(FJHN)(ADTKD 病谱中的一个命名实体)的葡萄牙家族进行的遗传学研究发现,UMOD 中有一个以前未报道过的大缺失,包括整个末端外显子,该缺失与慢性肾脏病和高尿酸血症/痛风密切相关,从而确定了 ADTKD-UMOD 的初步诊断;还有一种超罕见的无义 SLC8A1 变异与 UMOD 缺失共存,患者的临床表现始终较早出现。由于 UMOD 的末端外显子不编码成熟尿调节蛋白的任何关键结构域或氨基酸残基,其缺失致病的分子机制尚不清楚,需要进一步研究。我们在这个家族中的研究结果重新提出了这一假设。
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引用次数: 0
Hipofosfatemia ligada al cromosoma X: resultado a largo plazo con diferentes modalidades de tratamiento X染色体相关低磷血症:不同治疗方式的长期结果
IF 2 4区 医学 Q2 UROLOGY & NEPHROLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.nefro.2023.05.001
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引用次数: 0
El desarrollo de una lesión renal aguda es un predictor independiente de mortalidad en las endocarditis infecciosas 急性肾损伤的发展是感染性心内膜炎死亡率的独立预测因素
IF 2 4区 医学 Q2 UROLOGY & NEPHROLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.nefro.2023.03.001

Introduction

Infective endocarditis presents a 25% mortality. Acute kidney injury (AKI) develops in up to 70% of the cases. The aim of this study is to evaluate the predictive value of AKI in mortality due to endocarditis and to assess its associated factors.

Methods

Unicentric and retrospective study including all patients with in-hospital diagnosis of endocarditis between 2015 and 2021. Epidemiological data and comorbidities were collected at baseline. During admission, renal function parameters, infection-related variables and mortality were collected. Using adjusted multivariate models, LRA predictive value was determined.

Results

One hundred and thirty-four patients (63% males, age 72±15 years) were included. Of them 94 (70%) developed AKI (50% AKIN-1, 29% AKIN-2 and 21% AKIN-3). Factors associated to AKI were age (p=0.03), hypertension (p=0.005), previous chronic kidney disease (p=0.001), heart failure (p=0.006), peripheral vascular disease (p=0.022) and glomerular filtration rate (GFR) at baseline (p<0.001). GFR at baseline was the only factor independently associated to AKI (OR 0.94, p=0.001).

In-hospital deaths were registered in 46 (34%) patients. Of them, 45 (98%) patients had developed AKI. AKI was independently associated to mortality through diverse multivariate models. GFR loss (OR 1.054, p<0.001) and GFR at baseline (0.963, p=0.012) also predicted mortality during admission.

Conclusions

AKI development and its severity (GFR loss and AKIN severity) impacts in in-hospital mortality due to infective endocarditis.

导言感染性心内膜炎的死亡率为 25%。70%的病例会出现急性肾损伤(AKI)。本研究旨在评估急性肾损伤在心内膜炎死亡率中的预测价值,并评估其相关因素。基线收集流行病学数据和合并症。入院期间,收集肾功能参数、感染相关变量和死亡率。结果 共纳入 134 名患者(63% 为男性,年龄为 72±15 岁)。其中94人(70%)发生了AKI(50%为AKIN-1,29%为AKIN-2,21%为AKIN-3)。与 AKI 相关的因素有年龄(p=0.03)、高血压(p=0.005)、既往慢性肾病(p=0.001)、心力衰竭(p=0.006)、外周血管疾病(p=0.022)和基线肾小球滤过率(GFR)(p<0.001)。基线时的肾小球滤过率是唯一与 AKI 独立相关的因素(OR 0.94,p=0.001)。有 46 名(34%)患者在院内死亡,其中 45 名(98%)患者出现了 AKI。通过不同的多变量模型,AKI 与死亡率呈独立相关性。结论AKI的发生及其严重程度(GFR损失和AKIN严重程度)会影响感染性心内膜炎的院内死亡率。
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引用次数: 0
Toxicodermia relacionada con el uso de tolvaptán 与托伐坦使用有关的毒皮病
IF 2 4区 医学 Q2 UROLOGY & NEPHROLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.nefro.2023.01.004
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引用次数: 0
Influencia de los determinantes sociales de la salud en la elección de tratamiento renal sustitutivo en la enfermedad renal crónica avanzada: necesidad de un enfoque multidisciplinar 社会健康决定因素对晚期慢性肾脏疾病肾脏替代治疗选择的影响:需要多学科方法
IF 2 4区 医学 Q2 UROLOGY & NEPHROLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.nefro.2023.04.001

Introduction

The influence of socioeconomic and cultural barriers in the choice of renal replacement therapy (RRT) techniques in advanced chronic kidney disease (ACKD) has been scarcely explored, which can generate problems of inequity, frequently unnoticed in health care. The aim of this study is to identify the “non-medical” barriers that influence the choice of RRT in an ACKD consultation in Spain.

Material and methods

Retrospective analysis including the total number of patients seen in the ACKD consultation in a tertiary hospital from 2009 to 2020. Inclusion in the ACKD consultation began with an eligibility test and a decision-making process, conducted by a specifically trained nurse. The variables considered for the study were: age, sex, etiology of CKD, level of dependence for basic activities of daily living (Barthel scale) and instrumental activities of daily living (Lawton and Brody scale), Spanish versus foreign nationality, socioeconomic level and language barrier. The socioeconomic level was extrapolated according to home and health district by primary care center to which the patients belonged.

Results

A total of 673 persons were seen in the ACKD consultation during the study period, of whom 400 (59.4%) opted for hemodialysis (HD), 156 (23.1%) for peritoneal dialysis (PD), 4 (0.5%) for early living donor renal transplantation and 113 (16.7%) chose conservative care (CC). The choice of PD as the chosen RRT technique (vs. HD) was associated with people with a high socioeconomic level (38.7 vs. 22.5%) (p = 0.002), Spanish nationality (91 vs. 77.7%) (p < 0,001), to a lower language barrier (0.6 vs. 10.5%) (p < 0.001), and to a higher score on the Barthel scale (97.4 vs. 92.9) and on the Lawton and Brody scale (7 vs. 6.1) (p < 0.001). Neither age nor sex showed significant differences in the choice of both techniques. Patients who opted for CC were significantly older (81.1 vs. 67.7 years; p < 0.001), more dependent (p < 0.001), with a higher proportion of women (49.6 vs. 35.2%; p = 0.006) and a higher proportion of Spaniards (94.7 vs. 81%, p = 0.001) in relation to the choice of other techniques (PD and HD). Socioeconomic level did not influence the choice of CC.

Conclusion

Despite a regulated decision-making process, there are factors such as socioeconomic status, migration, language barrier and dependency of the population that influence the type of RRT chosen. To address these aspects that may cause inequity, an intersectoral and multilevel intervention is required with interdisciplinary teams that include, among others, social workers, to provide a more holistic and person-centered assessment.

导言:社会经济和文化障碍对晚期慢性肾脏病(ACKD)患者选择肾脏替代治疗(RRT)技术的影响很少被探讨,这可能会产生不公平的问题,在医疗保健中经常被忽视。本研究旨在确定影响西班牙 ACKD 会诊中 RRT 选择的 "非医疗 "障碍。纳入 ACKD 会诊的患者首先要接受资格测试,然后由经过专门培训的护士进行决策。研究考虑的变量包括:年龄、性别、慢性肾脏病的病因、基本日常生活活动(巴特尔量表)和工具性日常生活活动(劳顿和布罗迪量表)的依赖程度、西班牙国籍与外国国籍、社会经济水平和语言障碍。研究期间,共有 673 人接受了 ACKD 会诊,其中 400 人(59.4%)选择了血液透析(HD),156 人(23.1%)选择了腹膜透析(PD),4 人(0.5%)选择了早期活体肾移植,113 人(16.7%)选择了保守治疗(CC)。选择腹膜透析作为 RRT 技术(与 HD 相比)与社会经济水平高(38.7% 对 22.5%)(p = 0.002)、西班牙国籍(91% 对 77.7%)(p = 0.001)、语言障碍较低(0.6 vs. 10.5%)(p = 0.001)、巴特尔量表评分较高(97.4 vs. 92.9)以及劳顿和布罗迪量表评分较高(7 vs. 6.1)(p = 0.001)。在两种技术的选择上,年龄和性别均无明显差异。与选择其他技术(PD 和 HD)的患者相比,选择 CC 的患者年龄明显偏大(81.1 岁对 67.7 岁,p = 0.001),依赖性更强(p = 0.001),女性比例更高(49.6% 对 35.2%,p = 0.006),西班牙人比例更高(94.7% 对 81%,p = 0.001)。结论尽管有规范的决策过程,但社会经济地位、移民、语言障碍和人口依赖性等因素影响着 RRT 的选择。为了解决这些可能导致不公平的问题,需要跨部门和多层次的干预措施,由包括社工在内的跨学科团队提供更加全面和以人为本的评估。
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引用次数: 0
Comentario a «Estudio de intervención para comprobar el efecto de la música clásica en directo durante hemodiálisis sobre la calidad de vida de pacientes con enfermedad renal crónica» 对“血液透析期间现场古典音乐对慢性肾病患者生活质量影响的干预研究”的评论
IF 2 4区 医学 Q2 UROLOGY & NEPHROLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.nefro.2022.12.011
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引用次数: 0
Estudio piloto de seguimiento en pacientes con enfermedad renal diabética mediante la aplicación NORA 使用Nora应用程序对糖尿病肾病患者进行初步随访研究
IF 2 4区 医学 Q2 UROLOGY & NEPHROLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.nefro.2023.01.008

Introduction

Diabetic kidney disease (DKD) is the most common cause of end-stage chronic kidney disease (CKD), conditioning these patients to a worse renal prognosis and higher cardiovascular mortality and/or requirement for renal replacement therapy. The use of novel information and communication technologies (ICTs) focused on the field of health, may facilitates a better quality of life and disease control in these patients. Our objective is to evaluate the effect of monitoring DKD patients using NORA-app.

Material and methods

Prospective feasibility/validation study of NORA-app in patients with DKD stage G3bA3 or higher, followed in outpatient clinics of a tertiary care hospital. NORA-app is an application for smartphones designed to control risk factors, share educational medical information, communicate via chat with health professionals, increase treatment compliance (Morisky-Green), and collect patient reported outcomes such as anxiety and depression using HADs scale. Clinical-laboratory variables were collected at 3 months and compared to control patients who declined using NORA-app.

Results

From 01/01/2021 to 03/03/2022 the use of NORA-app was offered to 118 patients, 82 accepted and 36 declined (controls). After a mean follow-up period of 6.04 months and at the time of data extraction 71 (86.6%) NORA-app patients remain active users, 2 have completed the follow-up at one year and 9 are inactive (3 due to death and 6 due to non-locatable). There were no differences in baseline characteristics including creatinine [2.1 (1.6–2.4) vs. 1.9 (1.5–2.5)] mg/dL and alb/creat [962 (475–1784) vs. 1036 (560–2183)] mg/g between Nora and control patients, respectively. The therapeutic compliance rate in the NORA-app group was 77%, improving at 90 days to 91%. Patients in the NORA-group showed significantly lower levels of alb/creat than controls (768 (411–1971) mg/g vs. 2039 (974–3214), p = 0.047) at 90-day follow-up.

Conclusions

In patients with DKD the use of NORA-app was maintained in the long-term, leading to high levels of treatment compliance, and achieving a better disease control. Our study suggests that the generalized use of ICTs may help in the personalized monitoring of these patients to delay the progression of kidney disease.

导言糖尿病肾病(DKD)是终末期慢性肾病(CKD)最常见的病因,这些患者的肾脏预后较差,心血管死亡率较高,并且/或者需要接受肾脏替代治疗。使用以健康领域为重点的新型信息和通信技术(ICTs)可能有助于改善这些患者的生活质量和疾病控制。我们的目标是评估使用 NORA-app 对 DKD 患者进行监测的效果。材料和方法在一家三级医院的门诊中对 G3bA3 期或以上的 DKD 患者进行 NORA-app 的前瞻性可行性/验证研究。NORA-app 是一款智能手机应用程序,旨在控制风险因素、分享教育性医疗信息、通过聊天与医疗专业人员沟通、提高治疗依从性(Morisky-Green),并使用 HADs 量表收集患者报告的结果,如焦虑和抑郁。结果从 2021 年 1 月 1 日至 2022 年 3 月 3 日,118 名患者使用了 NORA-APP,其中 82 人接受,36 人拒绝(对照组)。经过平均 6.04 个月的随访,在提取数据时,71 名(86.6%)NORA-app 患者仍是活跃用户,2 人完成了一年的随访,9 人处于非活跃状态(3 人死亡,6 人无法定位)。诺拉患者和对照组患者的肌酐[2.1 (1.6-2.4) vs. 1.9 (1.5-2.5)] mg/dL和白蛋白/肌酸[962 (475-1784) vs. 1036 (560-2183)] mg/g等基线特征没有差异。诺拉应用组的治疗依从率为 77%,90 天后提高到 91%。结论 在 DKD 患者中,长期使用 NORA-app 可维持较高的治疗依从性,并实现更好的疾病控制。我们的研究表明,普遍使用信息和通信技术有助于对这些患者进行个性化监测,从而延缓肾病的进展。
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引用次数: 0
Renal effects of sodium-glucose co-transporter-2 inhibitors in patients with heart failure with reduced or preserved ejection fraction 钠-葡萄糖共转运体-2 抑制剂对射血分数降低或保留的心力衰竭患者肾脏的影响
IF 2 4区 医学 Q2 UROLOGY & NEPHROLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.nefro.2021.09.023
Dimitrios Patoulias , Christodoulos Papadopoulos , Asterios Karagiannis , Michael Doumas
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引用次数: 0
Disminución acelerada de la tasa de filtrado glomerular en sujetos que presentaron previamente lesión renal aguda asociada a la enfermedad por coronavirus 2019: lo que la pandemia nos dejó 曾患 COVID-19 相关急性肾损伤的受试者肾小球滤过率加速下降。大流行留下了什么
IF 2 4区 医学 Q2 UROLOGY & NEPHROLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.nefro.2023.11.002
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引用次数: 0
Documento de información y consenso para el manejo diagnóstico y terapéutico del prurito asociado a la enfermedad renal crónica en pacientes en hemodiálisis en España 西班牙血液透析患者慢性肾病相关瘙痒的诊断和治疗管理的信息文件和共识
IF 2 4区 医学 Q2 UROLOGY & NEPHROLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.nefro.2023.04.006

Chronic kidney disease-associated pruritus (CKD-aP) is one of the most common and disabling comorbidities in patients with advanced CKD. In addition, it is associated with an increased risk of mortality, poorer quality of life, sleep disorders, mental health disorders, and increased use of health care resources. The clinical presentation of CKD-aP is very heterogeneous, making it difficult to diagnose and treat. Currently, there are no national guidelines on the management of CKD-aP.

The aim of this document is to provide national consensus recommendations for the diagnostic and therapeutic management of CKD-aP.

The document was prepared in three phases: a diagnostic and therapeutic management algorithm was proposed by a small group of nephrology specialists; the proposal was validated by a larger group of nephrologists; and a second validation by a multidisciplinary group that also included dermatology specialists.

The diagnostic and therapeutic management algorithm attempts to cover the current need of a lack of specific guidelines for the adequate management of CKD-aP. At the same time, it introduces the use of difelikefalin, the first and only drug specifically approved for CKD-aP, with a good safety and efficacy profile.

慢性肾脏病相关性瘙痒症(CKD-aP)是晚期慢性肾脏病患者最常见的致残性合并症之一。此外,它还与死亡风险增加、生活质量下降、睡眠障碍、精神疾病和医疗资源使用增加有关。CKD-aP 的临床表现差异很大,因此诊断和治疗都很困难。本文件旨在为 CKD-aP 的诊断和治疗管理提供国家共识建议。该文件的编写分为三个阶段:由一小部分肾脏病专家提出诊断和治疗管理算法;由更多的肾脏病专家对该建议进行验证;由包括皮肤病专家在内的多学科小组进行第二次验证。与此同时,它还引入了地非司酮,这是第一种也是唯一一种获准专门用于 CKD-aP 的药物,具有良好的安全性和有效性。
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引用次数: 0
期刊
Nefrologia
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