Nefrologia最新文献

{"title":"Clinical Frailty Scale and Charlson Comorbidity Index as predictors of hospitalization and mortality risk after kidney transplant failure","authors":"Rita Leal ,&nbsp;Pedro Almiro e Castro ,&nbsp;Rui Duarte ,&nbsp;Ana Rita Silva ,&nbsp;Maria Guedes Marques ,&nbsp;Luís Rodrigues ,&nbsp;Lídia Santos ,&nbsp;Catarina Romãozinho ,&nbsp;Helena Oliveira Sá ,&nbsp;Arnaldo Figueiredo ,&nbsp;Rui Alves","doi":"10.1016/j.nefro.2025.501353","DOIUrl":"10.1016/j.nefro.2025.501353","url":null,"abstract":"<div><h3>Introduction and objectives</h3><div>Kidney transplant (KT) recipients who experience graft failure and return to dialysis face a higher risk of adverse outcomes. This study aimed to identify risk factors for hospitalization and mortality two years post-graft failure.</div></div><div><h3>Materials and methods</h3><div>We conducted a retrospective cohort study of end-stage kidney disease patients who initiated hemodialysis following graft failure between January 2019 and December 2020. The Clinical Frailty Scale (CFS) and the Charlson Comorbidity Index (CCI) were assessed for each patient at the time of graft loss. The primary outcomes were hospitalization and all-cause mortality over a two-year follow-up period.</div></div><div><h3>Results</h3><div>A total of 107 patients were included, with a mean age of 55.9 years and a mean graft survival of 134 months. The two-year hospitalization rate was 37.4%, with lower residual diuresis and higher CFS identified as independent risk factors. The two-year mortality rate was 16.8%. A multivariate regression model, explaining 82% of the variance, confirmed that higher CCI, higher CFS, and lower residual diuresis significantly increased mortality risk. A CCI cut-off of ≥8 (AUC 0.95) further stratified patients at elevated mortality risk. Immunological and transplant-related variables did not influence mortality or hospitalization risk.</div></div><div><h3>Conclusions</h3><div>In this cohort, frailty defined by CFS was associated with hospitalization and mortality, while comorbidity burden evaluated by CCI was strongly related to mortality. These tools may help personalize the care of patients with a failing graft.</div></div>","PeriodicalId":18997,"journal":{"name":"Nefrologia","volume":"45 6","pages":"Article 501353"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144611908","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment and prediction of diabetic kidney disease in patients with type 2 diabetes mellitus by using an advanced biomarkers","authors":"Alyaa Hliel ,&nbsp;Huda Ahmed ,&nbsp;Hiba Hasan","doi":"10.1016/j.nefro.2025.03.001","DOIUrl":"10.1016/j.nefro.2025.03.001","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Background&lt;/h3&gt;&lt;div&gt;Diabetic kidney disease (DKD), is the major microvascular complication of diabetes, affecting on 40% of type 2 diabetic patients, is the leading cause of end-stage renal failure. Microalbuminuria has limited diagnostic role in early-stage diabetic kidney disease, because renal damage usually occurs before proteinuria. Therefore, more sensitive and specific biomarkers are needed for early detection of DKD.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Aims&lt;/h3&gt;&lt;div&gt;The aim of this study was to determine the levels of monocyte chemoattractant protein-1 (MCP-1) and Wnt inducible signaling pathway protein 1 (WISP1) in type 2 diabetic patients and using them as a better diagnostic biomarker in the early phase of DKD.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Materials and methods&lt;/h3&gt;&lt;div&gt;A case–control study involved 180 participants aged from 40 to greater than 60 years, 60 individuals are healthy, 120 person with type 2 diabetes mellitus (T2DM), they were divided in three groups by using urinary albumin/creatinine ratio (UACR): Group 1: 40 patients with normoalbuminuria (ACR&lt;!--&gt; &lt;!--&gt;&lt;&lt;!--&gt; &lt;!--&gt;30&lt;!--&gt; &lt;!--&gt;mg/g creatinine). Group 2: 40 patients with microalbuminuria (ACR 30–300&lt;!--&gt; &lt;!--&gt;mg/g creatinine). Group 3: 40 patients with proteinuria (ACR&lt;!--&gt; &lt;span&gt;&gt;&lt;/span&gt; &lt;!--&gt;300&lt;!--&gt; &lt;!--&gt;mg/g creatinine). Both serum MCP-1 and WISP1 levels were measured by an enzyme-linked immunosorbent assay (ELISA) the sandwich method. The patients were also assessed for duration of disease, fasting blood glucose, glycated hemoglobin, serum creatinine and blood urea. Urine albumin/creatinine ratio was determined by measurements of albumin and creatinine in morning urine sample.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;div&gt;There was a significant elevation for all parameters in diabetic patients compared to control when estimated glomerular filtration rate (eGFR) decreased. The prevalence of DKD was found higher in male than in female and the majority of patients were older than ≥60 years. A significant difference with regards to age, body mass index (BMI) and duration of DM was found &lt;em&gt;p&lt;/em&gt; &lt;!--&gt;≤&lt;!--&gt; &lt;!--&gt;0.001. The mean of MCP-1 and WISP1 levels were higher in T2DM patients as compared with control group. MCP-1 was (152.85&lt;!--&gt; &lt;!--&gt;±&lt;!--&gt; &lt;!--&gt;129.78), (137.24&lt;!--&gt; &lt;!--&gt;±&lt;!--&gt; &lt;!--&gt;93.3), (70.93&lt;!--&gt; &lt;!--&gt;±&lt;!--&gt; &lt;!--&gt;24.34) and (20.43&lt;!--&gt; &lt;!--&gt;±&lt;!--&gt; &lt;!--&gt;6.04&lt;!--&gt; &lt;!--&gt;pg/mL) in proteinuria, microalbuminuria, normoalbuminuria and control groups respectively. WISP1 was (125.83&lt;!--&gt; &lt;!--&gt;±&lt;!--&gt; &lt;!--&gt;41.4), (94.58&lt;!--&gt; &lt;!--&gt;±&lt;!--&gt; &lt;!--&gt;26.9), (59.44&lt;!--&gt; &lt;!--&gt;±&lt;!--&gt; &lt;!--&gt;21.28) and (24.64&lt;!--&gt; &lt;!--&gt;±&lt;!--&gt; &lt;!--&gt;7.6&lt;!--&gt; &lt;!--&gt;pg/mL) in proteinuria, microalbuminuria, normoalbuminuria and control groups respectively. MCP-1 had a strong association with blood urea, serum creatinine and an inverse association with eGFR. There was significant positive correlation between the WISP1 and urea. In contrast there was positive correlations with creatinine only in microalbuminuria and prote","PeriodicalId":18997,"journal":{"name":"Nefrologia","volume":"45 6","pages":"Article 101330"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144611909","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relationship between macrophage phenotype and kidney survival in patients with lupus nephritis","authors":"Ozcan Uzun ,&nbsp;Cihan Heybeli ,&nbsp;Fatma Sema Anar Kutlu ,&nbsp;Evrim Atmaca ,&nbsp;Filiz Yıldırım ,&nbsp;Caner Cavdar ,&nbsp;Sulen Sarioglu","doi":"10.1016/j.nefro.2025.04.001","DOIUrl":"10.1016/j.nefro.2025.04.001","url":null,"abstract":"<div><h3>Aims</h3><div>To determine the possible relationship between macrophage phenotypes and the progression of kidney disease in patients with lupus nephritis (LN).</div></div><div><h3>Methods</h3><div>Using immunohistochemistry, CD68⁺ and CD163⁺ cells were counted per glomerulus and per high-power field in the tubulointerstitium. Progression was defined as a doubling of the serum creatinine level and/or progression to end-stage kidney disease.</div></div><div><h3>Results</h3><div>Among the 21 patients, 52% had class III or IV LN. During the median follow-up of 88 months, 5 (23.8%) patients experienced progression. In terms of clinical and pathological markers, the only significant difference between progressors and nonprogressors was the number of interstitial CD163⁺ cells (median 4 versus 2.4, respectively; <em>p</em> <!-->=<!--> <!-->0.025). A cutoff value of 2.7 for the mean number of CD163⁺ cells in the interstitium yielded a sensitivity of 80% and specificity of 75% for progression. The estimated median time to progression among patients with ≥2.7 CD163⁺ cells was shorter (median 136 versus 202 months, <em>p</em> <!-->=<!--> <!-->0.023). A greater number of CD163⁺ cells in the kidney interstitium was associated with the progression of kidney disease (HR 2.88, 95% CI 1.22–6.80; <em>p</em> <!-->=<!--> <!-->0.016). Class III–IV LN was associated with a higher median number of glomerular CD163⁺ cells (OR 1.96, 95% CI 1.1–3.49, <em>p</em> <!-->=<!--> <!-->0.023). Endocapillary hypercellularity and extracapillary proliferation were associated with greater number of CD163⁺ cells in the glomerular area. Among patients with class III-IV LN, the number of interstitial CD68⁺ cells was greater in those who experienced progression of kidney disease (<em>p</em> <!-->=<!--> <!-->0.012).</div></div><div><h3>Conclusion</h3><div>A greater number of CD163⁺ cells in the kidney interstitium was associated with the progression of kidney disease in patients with LN, while a greater number of CD68⁺ cells in the interstitium was associated with progression in the subgroup of patients with class III-IV LN.</div></div>","PeriodicalId":18997,"journal":{"name":"Nefrologia","volume":"45 6","pages":"Article 101331"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144611907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pharmacological nephrotoxicity profile in a comprehensive cancer center: What changed in two decades and predictors for the need for haemodialysis and mortality","authors":"André Ferreira,&nbsp;Marina Reis ,&nbsp;Teresa Chuva ,&nbsp;Hugo Ferreira,&nbsp;Inês Coelho,&nbsp;Ana Paiva ,&nbsp;José Maximino Costa","doi":"10.1016/j.nefro.2025.501332","DOIUrl":"10.1016/j.nefro.2025.501332","url":null,"abstract":"<div><h3>Introduction and objectives</h3><div>Acute kidney injury (AKI) is a frequent and severe complication in hospitalised cancer patients. However, overall data from in-hospital drug-related AKI in cancer patients is scarce. We aim to review the profile of moderate to severe drug-induced AKI in patients admitted to an oncology hospital over the last two decades and to assess renal and overall outcomes.</div></div><div><h3>Material and methods</h3><div>410 cases of drug-induced AKI KDIGO<!--> <!-->≥<!--> <!-->2 were analyzed, comparing between two decades from 2002 to 2021 in a comprehensive cancer center.</div></div><div><h3>Results</h3><div>The main differences were the introduction of new classes of cancer therapy (e.g., immune checkpoint inhibitors [ICPI] and tyrosine kinase inhibitors [TKI]), a decrease in nephrotoxicity due to platinum-based drugs, and an increase in nephrotoxicity caused by multiple drugs without cancer-directed therapy. Mortality was similar, but the need for haemodialysis (HD) was higher in the second decade (25.5% vs 36.6%, <em>p</em> <!-->=<!--> <!-->0.02). Multivariate analysis presented invasive mechanical ventilation and sepsis as risk factors for both HD and mortality, haematologic cancer as risk factors for HD, and the need for HD and multiple drugs without cancer-directed therapy as risk factors for mortality.</div></div><div><h3>Conclusion</h3><div>Adequate drug surveillance and prophylaxis render cancer therapy as a relatively small contributor to drug-induced AKI in a comprehensive cancer center. Critically ill patients have a higher need for HD and mortality regardless of the nephrotoxic agent implied.</div></div>","PeriodicalId":18997,"journal":{"name":"Nefrologia","volume":"45 6","pages":"Article 501332"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144611910","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hiperuricemia en pacientes con enfermedad renal crónica: ¿cuándo y con qué tratar?","authors":"Marian Goicoechea ,&nbsp;Rodrigo García-Marina","doi":"10.1016/j.nefro.2025.501334","DOIUrl":"10.1016/j.nefro.2025.501334","url":null,"abstract":"<div><div>Hyperuricemia is frequently associated with gout, renal disease, arterial hypertension and high cardiovascular disease. All chronic kidney disease patients with a first episode of gout should be treated with hypouricemic drugs to achieve baseline uric acid levels of less than 6<!--> <!-->mg/dl (&lt;5<!--> <!-->mg/dl if tophi are present). The hypouricemic drugs of choice in patients with chronic kidney disease are allopurinol and febuxostat, always starting treatment with low doses that can be progressively increased according to tolerance. Asymptomatic hyperuricemia increases the risk of arterial hypertension, cardiovascular disease and renal disease, but at present published clinical trials do not support the treatment of asymptomatic hyperuricemia in patients with chronic kidney disease.</div></div>","PeriodicalId":18997,"journal":{"name":"Nefrologia","volume":"45 6","pages":"Article 501334"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144611863","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hiperaldosteronismo familiar como causa secundaria de hipertensión arterial. A propósito de un caso en edad pediátrica","authors":"Ana Roche Gómez ,&nbsp;Cristina Julia Blázquez Gómez ,&nbsp;Irene Gómez-Pastrana Pau ,&nbsp;Clara María Aymerich de Franceschi ,&nbsp;Mar Espino Hernández","doi":"10.1016/j.nefro.2025.01.002","DOIUrl":"10.1016/j.nefro.2025.01.002","url":null,"abstract":"","PeriodicalId":18997,"journal":{"name":"Nefrologia","volume":"45 6","pages":"Article 101316"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144611912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fabry disease as a trigger of immune-mediated glomerular disease: Clinical hypotheses and literature review","authors":"Javier Martínez de Victoria Carazo ,&nbsp;Haylen Marin ,&nbsp;Francisco Javier De la Hera Fernández ,&nbsp;Carlos Mañero Rodríguez ,&nbsp;César Ramírez Tortosa ,&nbsp;José Luís Callejas Rubio","doi":"10.1016/j.nefro.2025.01.003","DOIUrl":"10.1016/j.nefro.2025.01.003","url":null,"abstract":"<div><div>Fabry disease (FD) is an X-linked genetic disorder characterized by alpha-galactosidase deficiency, leading to the accumulation of globotriaosylceramide. This accumulation causes multi-organ dysfunction, with renal involvement being particularly significant. Recently, the immunological relationship of this disease has been investigated, including the inactivation of enzyme therapies by antibodies and systemic inflammation. We present the case of a 15-year-old patient with FD and ANCA-associated vasculitis (AAV). A narrative review was conducted by searching PubMed with the terms “Fabry disease” AND “vasculitis” AND “glomerulonephritis,” identifying 9 relevant articles. These cases were compared with the current one, emphasizing pathophysiological aspects. 75% of patients had fever, 50% had peripheral edema, and 25% had otorhinolaryngological involvement. Pauci-immune necrosis was found in 75%. Therapeutically, all cases were treated with plasmapheresis, 75% with cyclophosphamide, and only one case required hemodialysis during follow-up. The association of FD with vasculitis is rare, with only five cases, only one with positive ANCA. The role of the immune system in FD, still not fully understood, seems to contribute significantly to pathogenesis and complications. This case highlights the need for further research on the immunological role in FD and its relationship with vasculitis and other autoimmune diseases.</div></div>","PeriodicalId":18997,"journal":{"name":"Nefrologia","volume":"45 5","pages":"Pages 401-409"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143868871","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Infección peritoneal por Delftia lacustris","authors":"David García Cousillas,&nbsp;José Emilio Sánchez Álvarez,&nbsp;Noelia Palacio Liébana,&nbsp;Jéssica Blanco Sierra,&nbsp;Elena Astudillo Cortés,&nbsp;Carmen Rodríguez Suárez","doi":"10.1016/j.nefro.2024.12.008","DOIUrl":"10.1016/j.nefro.2024.12.008","url":null,"abstract":"","PeriodicalId":18997,"journal":{"name":"Nefrologia","volume":"45 5","pages":"Pages 418-419"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143867830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A predictive model of non-diabetic kidney disease in patients with diabetes mellitus and chronic kidney disease. A Spanish multi-center study","authors":"Sheila Bermejo ,&nbsp;Ester González ,&nbsp;Katia López-Revuelta ,&nbsp;Meritxell Ibernon ,&nbsp;Diana López ,&nbsp;Adoración Martín-Gómez ,&nbsp;Rosa Garcia-Osuna ,&nbsp;Tania Linares ,&nbsp;Montserrat Díaz ,&nbsp;Nàdia Martín ,&nbsp;Xoana Barros ,&nbsp;Helena Marco ,&nbsp;Maruja Isabel Navarro ,&nbsp;Noemí Esparza ,&nbsp;Sandra Elias ,&nbsp;Ana Coloma ,&nbsp;Nicolás Roberto Robles ,&nbsp;Irene Agraz ,&nbsp;Esteban Poch ,&nbsp;Lida Rodas ,&nbsp;María José Soler","doi":"10.1016/j.nefro.2024.12.007","DOIUrl":"10.1016/j.nefro.2024.12.007","url":null,"abstract":"<div><h3>Aims</h3><div>Kidney biopsy is increasing in patients with diabetes and around 50–60% of patients with diabetes have non-diabetic kidney disease (NDKD). Identifying NDKD is crucial since these patients have a better renal prognosis and survival compared to patients with diabetic nephropathy (DN). The objective of this study is to provide a clinical practice tool for through a predictive model of NDKD.</div></div><div><h3>Material and methods</h3><div>Observational and multicenter Spanish study of the pathological results of kidney biopsies in patients with diabetes from 2002 to 2014. A logistic regression analysis and the probability of presenting NDKD was calculated using a punctuation score.</div></div><div><h3>Results</h3><div>A total of 832 patients with diabetes and renal biopsy were analyzed. An accurate risk-predictive model for NDKD was developed with five top-ranked non-invasive clinical variables (age, serum creatinine, presence of diabetic retinopathy, microhematuria and peripheral vascular disease) obtaining a score for each one allowing for a proper prediction of NDKD.</div></div><div><h3>Conclusions</h3><div>In our study, we developed a risk-stratification score to calculate the probability of NDKD. This could be in a next future a useful tool for the clinical indication of renal biopsy in patients with diabetes and kidney disease.</div></div>","PeriodicalId":18997,"journal":{"name":"Nefrologia","volume":"45 5","pages":"Pages 360-368"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143869005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Caracterización de variantes recurrentes de UMOD (p.C255Y y p.Q316P) en una cohorte gallega: correlación genotipo-fenotipo e implicaciones clínicas","authors":"Eloísa Sánchez-Cazorla ,&nbsp;Borja Temes-Álvarez ,&nbsp;Pilar Oliveros-Martínez ,&nbsp;Pedro Fortes-González ,&nbsp;María García-Murias ,&nbsp;Ana Barcia de la Iglesia ,&nbsp;Noa Carrera ,&nbsp;Miguel Ángel García-González ,&nbsp;Grupo GalERH","doi":"10.1016/j.nefro.2025.01.007","DOIUrl":"10.1016/j.nefro.2025.01.007","url":null,"abstract":"<div><h3>Background</h3><div>The <em>UMOD</em> gene encodes the uromodulin protein, which plays a crucial role in renal function. Genetic alterations affecting its correct function are mainly related to Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD), progressive renal failure and hyperuricaemia, among other variable clinical phenotypes. In the Galician population there are recurrent mutations in this gene, this study aims to phenotypically characterise the recurrent variants to improve the prognosis and management strategies of affected patients.</div></div><div><h3>Methods</h3><div>A retrospective cohort study was conducted with 37 patients from 15 families carrying recurrent variants in <em>UMOD</em> (p.C255Y and p.Q316P, from transcript NM_001008389.3) in a Galician population characterised by high genetic conservation. Clinical data were collected, including renal function, hyperuricemia, hypertension and presence of renal cysts. Genomic analyses were performed by NGS and Sanger sequencing, variant classification were conducted according to ACMG guidelines. Statistical comparisons were performed using Mann-Whitney, Chi-square and Fisher tests, with Benjamini-Hochberg correction for multiple testing.</div></div><div><h3>Results</h3><div>The cohort included 28 carriers of p.C255Y and 9 of p.Q316P. Both variants affect highly conserved domains with low tolerance to amino acid changes, which alters protein function and has clinical effects in patients. Hyperuricaemia was observed in 76% of p.C255Y carriers and 50% of p.Q316P carriers, while only the first variant was associated with episodes of gout. Renal cysts and hypertension were identified in about half of the patients, independently of variant type. Kaplan-Meier curves suggested an earlier progression to hyperuricaemia and advanced chronic kidney disease (CKD) in p.C255Y carriers, although without reaching statistical significance.</div></div><div><h3>Conclusions</h3><div>Recurrent <em>UMOD</em> mutations in a Galician cohort revealed shared clinical features, including hyperuricemia and CKD progression, with phenotypic variability influenced by age and additional genetic modifiers. The findings highlight the prognostic value of genotype-phenotype correlations and the need for tailored clinical management in ADTKD patients.</div></div>","PeriodicalId":18997,"journal":{"name":"Nefrologia","volume":"45 5","pages":"Pages 369-380"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143869006","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}