Nefrologia最新文献

{"title":"Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene","authors":"","doi":"10.1016/j.nefro.2023.09.007","DOIUrl":"10.1016/j.nefro.2023.09.007","url":null,"abstract":"<div><p>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 – <em>UMOD</em>, <em>MUC1</em>, <em>REN</em>, <em>HNF1β</em>, <em>SEC61A1</em>. The most prevalent form of ADTKD is uromodulin-associated kidney disease (ADTKD-<em>UMOD</em>).</p><p>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 <em>UMOD</em> encompassing the entire terminal exon, which strictly cosegregated with CKD and hyperuricemia/gout, establishing the primary diagnosis of ADTKD-<em>UMOD</em>; as well as an ultra-rare nonsense <em>SLC8A1</em> variant cosegregating with the <em>UMOD</em> deletion in patients that consistently exhibited an earlier onset of clinical manifestations.</p><p>Since the terminal exon of <em>UMOD</em> 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.</p><p>The association of the <em>SLC8A1</em> 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.</p></div>","PeriodicalId":18997,"journal":{"name":"Nefrologia","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0211699523001480/pdfft?md5=d3a85b67fb355dbf72634ff71c1043ee&pid=1-s2.0-S0211699523001480-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135434217","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"El desarrollo de una lesión renal aguda es un predictor independiente de mortalidad en las endocarditis infecciosas","authors":"","doi":"10.1016/j.nefro.2023.03.001","DOIUrl":"10.1016/j.nefro.2023.03.001","url":null,"abstract":"<div><h3>Introduction</h3><p>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.</p></div><div><h3>Methods</h3><p>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.</p></div><div><h3>Results</h3><p>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&lt;0.001). GFR at baseline was the only factor independently associated to AKI (OR 0.94, p=0.001).</p><p>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&lt;0.001) and GFR at baseline (0.963, p=0.012) also predicted mortality during admission.</p></div><div><h3>Conclusions</h3><p>AKI development and its severity (GFR loss and AKIN severity) impacts in in-hospital mortality due to infective endocarditis.</p></div>","PeriodicalId":18997,"journal":{"name":"Nefrologia","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0211699523000395/pdfft?md5=cc1948f5945cd53ab520759f2bf0635a&pid=1-s2.0-S0211699523000395-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42376539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Toxicodermia relacionada con el uso de tolvaptán","authors":"","doi":"10.1016/j.nefro.2023.01.004","DOIUrl":"10.1016/j.nefro.2023.01.004","url":null,"abstract":"","PeriodicalId":18997,"journal":{"name":"Nefrologia","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0211699523000048/pdfft?md5=575436505a06b650897f6676f5b78766&pid=1-s2.0-S0211699523000048-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44878609","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"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»","authors":"","doi":"10.1016/j.nefro.2022.12.011","DOIUrl":"10.1016/j.nefro.2022.12.011","url":null,"abstract":"","PeriodicalId":18997,"journal":{"name":"Nefrologia","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0211699522002065/pdfft?md5=795c28304ab71b232d691840e8098a52&pid=1-s2.0-S0211699522002065-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47804176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"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","authors":"","doi":"10.1016/j.nefro.2023.11.002","DOIUrl":"10.1016/j.nefro.2023.11.002","url":null,"abstract":"","PeriodicalId":18997,"journal":{"name":"Nefrologia","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S021169952300173X/pdfft?md5=f5fc666237bd7da4bdd179bc6fd06323&pid=1-s2.0-S021169952300173X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139292666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Estudio piloto de seguimiento en pacientes con enfermedad renal diabética mediante la aplicación NORA","authors":"","doi":"10.1016/j.nefro.2023.01.008","DOIUrl":"10.1016/j.nefro.2023.01.008","url":null,"abstract":"<div><h3>Introduction</h3><p>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.</p></div><div><h3>Material and methods</h3><p>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.</p></div><div><h3>Results</h3><p>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), <em>p</em> = 0.047) at 90-day follow-up.</p></div><div><h3>Conclusions</h3><p>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.</p></div>","PeriodicalId":18997,"journal":{"name":"Nefrologia","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0211699523000097/pdfft?md5=2a88fba745f0bd86d34827aab819bd70&pid=1-s2.0-S0211699523000097-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46003338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Renal effects of sodium-glucose co-transporter-2 inhibitors in patients with heart failure with reduced or preserved ejection fraction","authors":"","doi":"10.1016/j.nefro.2021.09.023","DOIUrl":"10.1016/j.nefro.2021.09.023","url":null,"abstract":"","PeriodicalId":18997,"journal":{"name":"Nefrologia","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0211699521002496/pdfft?md5=143614d1fd2e2c577bc770c53d9862f6&pid=1-s2.0-S0211699521002496-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141622919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"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","authors":"","doi":"10.1016/j.nefro.2023.04.001","DOIUrl":"10.1016/j.nefro.2023.04.001","url":null,"abstract":"<div><h3>Introduction</h3><p>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.</p></div><div><h3>Material and methods</h3><p>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.</p></div><div><h3>Results</h3><p>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<!--> <!-->&lt;<!--> <!-->0,001), to a lower language barrier (0.6 vs. 10.5%) (p<!--> <!-->&lt;<!--> <!-->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<!--> <!-->&lt;<!--> <!-->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<!--> <!-->&lt;<!--> <!-->0.001), more dependent (p<!--> <!-->&lt;<!--> <!-->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.</p></div><div><h3>Conclusion</h3><p>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.</p></div>","PeriodicalId":18997,"journal":{"name":"Nefrologia","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0211699523000620/pdfft?md5=7991a1d3653fcdc9ff8f6970c115d65d&pid=1-s2.0-S0211699523000620-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43597132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"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","authors":"","doi":"10.1016/j.nefro.2023.04.006","DOIUrl":"10.1016/j.nefro.2023.04.006","url":null,"abstract":"<div><p>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.</p><p>The aim of this document is to provide national consensus recommendations for the diagnostic and therapeutic management of CKD-aP.</p><p>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.</p><p>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.</p></div>","PeriodicalId":18997,"journal":{"name":"Nefrologia","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S021169952300067X/pdfft?md5=74fb0afc1df8b47451b43adf6a09f078&pid=1-s2.0-S021169952300067X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42948905","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impacto percibido de la donación en vivo en una unidad de hemodiálisis de un centro no trasplantador","authors":"","doi":"10.1016/j.nefro.2022.12.003","DOIUrl":"10.1016/j.nefro.2022.12.003","url":null,"abstract":"","PeriodicalId":18997,"journal":{"name":"Nefrologia","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0211699522001989/pdfft?md5=42a98d3445246161598fd7268d513ec5&pid=1-s2.0-S0211699522001989-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48971990","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}