Raras
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Tubulopatia renal - encefalopatia - insuficiência hepática
ORPHA:254902CID-10 · E88.8CID-11 · 5C53.2YDOENÇA RARA

Tubulopatia renal - encefalopatia - insuficiência hepática descreve um espectro de fenótipos com manifestações semelhantes, porém mais leves, às observadas na síndrome de Gracile e que podem estar associadas a encefalopatia e transtornos psiquiátricos.

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Introdução

O que você precisa saber de cara

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Tubulopatia renal - encefalopatia - insuficiência hepática descreve um espectro de fenótipos com manifestações semelhantes, porém mais leves, às observadas na síndrome de Gracile e que podem estar associadas a encefalopatia e transtornos psiquiátricos.

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SUS: Sem cobertura SUSScore: 0%
CID-10: E88.8
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2026177 papers
Linha do tempo
2026Hoje · 2026
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição.

Autosomal recessive
BCS1LMitochondrial chaperone BCS1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Chaperone necessary for the incorporation of Rieske iron-sulfur protein UQCRFS1 into the mitochondrial respiratory chain complex III (PubMed:11528392, PubMed:9878253). Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex (PubMed:18628306)

LOCALIZAÇÃO

Mitochondrion inner membrane

VIAS BIOLÓGICAS (1)
Complex III assembly
MECANISMO DE DOENÇA

GRACILE syndrome

GRACILE stands for 'growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death'. It is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism.

OUTRAS DOENÇAS (5)
mitochondrial complex III deficiency nuclear type 1GRACILE syndromeBjornstad syndromerenal tubulopathy-encephalopathy-liver failure syndrome
HGNC:1020UniProt:Q9Y276

Variantes genéticas (ClinVar)

201 variantes patogênicas registradas no ClinVar.

🧬 BCS1L: NM_001079866.2(BCS1L):c.3G>A (p.Met1Ile) ()
🧬 BCS1L: NM_001079866.2(BCS1L):c.1102T>A (p.Phe368Ile) ()
🧬 BCS1L: NM_001079866.2(BCS1L):c.694_695dup (p.Gly233fs) ()
🧬 BCS1L: GRCh37/hg19 2q33.3-37.3(chr2:206965837-242783384)x3 ()
🧬 BCS1L: NM_001079866.2(BCS1L):c.530G>A (p.Arg177His) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

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Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

High-grade follicular B-cell lymphoma-associated C3 rapidly progressive glomerulonephritis: a rare association.

BMJ case reports2026 Mar 16

Rapidly progressive glomerulonephritis (GN) in the context of B-cell lymphoma is rare, with most cases involving diffuse-large B-cell lymphoma or marginal zone lymphoma. Kidney biopsies are infrequently performed in this population, further limiting diagnostic clarity. Here, we report a case of newly diagnosed follicular large B-cell lymphoma (FLBCL) presenting with a nephritic syndrome, characterised by haematuria, hypertension and heavy proteinuria, caused by C3 crescentic GN, requiring dialysis. The patient was treated with polatuzumab, bendamustine and rituximab, which was well tolerated. Renal function gradually improved, leading to dialysis discontinuation, coinciding with lymphoma remission. This case underscores the atypical presentation of FLBCL, including renal dysfunction as an early manifestation, and the importance of prompt diagnosis and targeted therapy.

#2

Renal Hemodynamics Underlie Hepatorenal Physiology in Bile Duct-Ligated Rats.

Clinical science (London, England : 1979)2026 Mar 12

Hepatorenal syndrome (HRS), a distinctive form of acute kidney injury, is a life-threatening but potentially reversible complication of cirrhosis. The median survival time for affected patients is only 2-4 weeks. Treatment options for HRS are very limited. The absence of an established animal model that accurately reflects human disease has hindered efforts to find treatment targets. We aimed to describe the renal hemodynamic changes that occur over time in the rat common bile duct ligation (BDL) model of cirrhosis. Male Sprague-Dawley rats underwent BDL or sham surgery and were studied at 2- 5 weeks post-surgery. BDL caused persistent liver failure, which was linked to the development of liver fibrosis as early as 2 weeks. Renal function declined over time. Arterial blood pressure was significantly lower at 3 weeks after BDL and worsened further by 5 weeks. Additionally, renal blood flow, essential for kidney function, was dramatically reduced in BDL rats by 3 weeks. Decreased renal blood flow correlated with increased thromboxane synthase mRNA expression and higher thromboxane levels from 2 to 5 weeks in BDL rats. Similarly, enhanced constriction of the afferent arteriole in response to the thromboxane mimic, U46619, was seen at 2 weeks but not at 4 weeks in BDL rats. Levels of endothelin-1 increased between 2 and 5 weeks and were associated with heightened afferent arteriolar constriction in BDL rats. The rat BDL model replicates key systemic and renal hemodynamic features of decompensated cirrhosis in humans and provides a practical animal model for studying and developing therapies for HRS-AKI.

#3

Biomarkers for Screening and Diagnosis of Heart Failure in Cardiovascular-Kidney-Metabolic Syndrome: A Narrative Review.

International journal of molecular sciences2026 Mar 07

Cardiovascular-kidney-metabolic syndrome is a novel concept defined by the American Heart Association, highlighting the complex interactions between the cardiovascular system, kidney function and metabolic risk factors. Poor cardiovascular-kidney-metabolic health is increasingly prevalent worldwide, giving rise to a need to optimize early detection of cardiovascular dysfunction. Heart failure is one of the most prevalent forms of cardiovascular disease in patients with chronic kidney disease and metabolic risk factors, but screening and diagnostic strategies remain challenging. Current guidelines endorse the use of prediction scores, as well as a biomarker-based strategy in patients at increased risk. Despite evidence supporting the use of biomarkers such as natriuretic peptides, there are considerable limitations to their use in the setting of cardiovascular-kidney-metabolic syndrome. Moreover, there is mounting evidence supporting the use of other biomarkers reflecting underlying mechanisms leading to heart failure. The aim of this review is to assess current approaches to screening for and diagnosing heart failure in cardiovascular-kidney-metabolic syndrome, highlighting the strengths and pitfalls of gold-standard and emerging biomarkers, while also addressing gaps in evidence and future research directions. Validation of screening biomarkers and development of multimarker prediction scores could impact clinical practice and reduce the growing morbidity and mortality in cardiovascular-kidney-metabolic syndrome.

#4

Label-Free Detection of Molecular Signatures in Heart Failure with Preserved Ejection Fraction Using Raman Micro-Spectroscopy.

International journal of molecular sciences2026 Feb 25

Heart failure with preserved ejection fraction (HFpEF) is a complex and heterogeneous syndrome characterized by delayed diagnosis and limited therapeutic options, contributing to poor clinical outcomes. In the present study, we investigated the applicability of Raman micro-spectroscopy (RmS) as a label-free, rapid, and cost-effective approach for identifying molecular signatures associated with HFpEF and enabling reliable disease classification. RmS was applied to evaluate disease-related biochemical alterations in cardiac and renal tissues obtained from a clinically relevant HFpEF model (ZSF1 rat). Furthermore, the effects of three pharmacological interventions were analyzed and classified (five experimental groups-36 animals in total), highlighting organ-specific therapeutic responses. We developed a spectroscopic data analysis strategy in which second-derivative Raman spectral features serve as quantitative inputs to a supervised classification model, enabling micro-spectroscopic discrimination of HFpEF versus control tissues and achieving a classification accuracy of 92% (sensitivity 93% and specificity 91%) based on the protein-to-tryptophan ratio in cardiac tissue, while minimizing the need for extensive data preprocessing. The spectroscopic markers used in this study were derived from prior multivariate discovery analyses and are evaluated here within a validation and translational classification framework. Collectively, these findings support the integration of RmS into molecular and translational research settings and suggest its potential utility for improving HFpEF diagnosis and treatment monitoring.

#5

Current Appraisal and Gaps in Knowledge in Cardio-Kidney Metabolic Syndrome Definition.

International journal of molecular sciences2026 Feb 08

Although metabolic, renal, and cardiovascular disorders frequently coexist, little is known about how illness combinations affect prognosis. Cardiovascular disease (CVD), which can manifest as coronary artery disease (CAD), stroke, heart failure (HF), arrhythmias, and sudden cardiac death, is more likely to develop in patients with chronic kidney disease (CKD). This link is closer with regard of heart failure (HF) and renal dysfunction, in which a reciprocal relationship has been demonstrated, with the initial illness of one organ causing the progressive dysfunction of the other system. Common risk factors for both illnesses include obesity, diabetes, metabolic disorders, hypertension, and dyslipemia. Theoretically, each of these factors accelerates the atherosclerotic process or directly damages the endothelium through inflammatory, oxidative, and pro-thrombotic pathways, which in turn causes the beginning of heart dysfunction and renal function deterioration. Although the mechanisms and causes have been identified, there are still a number of unanswered questions regarding classification, development, monitoring, and preventive aspects. Furthermore, the absence of reliable data on cardiac and renal outcomes across different stages contributes to creating confusion in CKM classification and management. This paper discusses the current challenges and perspectives in CKM definition and assessment proposing a specific diagnostic and laboratory fingerprint.

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Ver todas no PubMed

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Revisiting the Concept of DIC: A Phenotype-guided Framework for Modern Hemostatic Medicine.

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Pediatric nephrology (Berlin, Germany)
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Frontiers in medicine
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High-grade follicular B-cell lymphoma-associated C3 rapidly progressive glomerulonephritis: a rare association.

BMJ case reports
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Comparison between effectiveness and safety of plasma therapy and complement inhibitors for the treatment of atypical hemolytic uremic syndrome: a systematic review and meta-analysis of real-world data.

Pediatric nephrology (Berlin, Germany)
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Renal Hemodynamics Underlie Hepatorenal Physiology in Bile Duct-Ligated Rats.

Clinical science (London, England : 1979)
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Cureus
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Non-tobacco nicotine dependence and incidence of pseudarthrosis and other postoperative complications in lumbar fusion surgery: a retrospective analysis.

European journal of orthopaedic surgery & traumatology : orthopedie traumatologie
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Selenoprotein P Deficiency Is Associated with Early Signs of Kidney Disease and Hospitalization Risk in Heart Failure.

Nutrients
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Biomarkers for Screening and Diagnosis of Heart Failure in Cardiovascular-Kidney-Metabolic Syndrome: A Narrative Review.

International journal of molecular sciences
2026

Label-Free Detection of Molecular Signatures in Heart Failure with Preserved Ejection Fraction Using Raman Micro-Spectroscopy.

International journal of molecular sciences
2026

Case Report: Native aortic valve Listeria monocytogenes endocarditis in an adult with Evans syndrome.

Frontiers in immunology
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Efficacy of cilastatin sodium in a translational large animal crush syndrome model.

Communications medicine
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Long-term changes in QT interval in hemodialysis patients.

Renal failure
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The Journal of the Association of Physicians of India
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International journal of surgery case reports
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[Traditional Chinese medicine understanding and treatment strategies for diuretic resistance].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
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Journal of the colleges of medicine of South Africa
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Cureus
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Nail Patella Syndrome Diagnosed in a Proband With Renal Failure Through Skeletal and Nail Deformities in Her Offspring: A Case Report of a Novel De Novo Genetic Defect in the LMX1B Gene.

Nephrology (Carlton, Vic.)
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Renal artery stenosis in heart failure: the overlooked cardiorenal culprit?

European journal of heart failure
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Clinical research in cardiology : official journal of the German Cardiac Society
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Clinical hypertension
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Development and validation of a risk prediction model for hepatorenal syndrome in hepatic failure patients based on glucose-6-phosphate dehydrogenase and hepatic and renal function biochemical parameters.

Journal of medical biochemistry
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Heterozygous X-linked Alport syndrome in a pregnant woman: A case report.

SAGE open medical case reports
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Immediate and Gradual Withdrawal of Immunosuppression After Kidney Graft Loss Lead to Similar Outcomes.

Transplant international : official journal of the European Society for Organ Transplantation
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Cureus
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Abdominal Compartment Syndrome Following Massive Transfusion in Upper Gastrointestinal Bleeding: A Case Report.

Cureus
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Novel Integration of Extracorporeal Membrane Oxygenation and Continuous Renal Replacement Therapy in Pediatric Patients With Severe Burns: A Case Report.

Cureus
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Transesophageal echocardiography (TEE)-guided management of post-myocardial infarction complications.

The international journal of cardiovascular imaging
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Two Cases of Successful Kidney Transplantation From a 39-Year-Old Male Deceased Donor With Marfan Syndrome: A Case Series.

The American journal of case reports
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Decoding lung-kidney interactions in sepsis: an integrated view of molecular mechanisms, pathophysiology, and therapeutic interventions.

Frontiers in immunology
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Socioeconomic status and ECMO outcomes in severe ARDS.

Annals of intensive care
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Long-Term Renal Outcomes Following Left Renal Vein Ligation Versus Direct Splenorenal Shunt Ligation in Living Donor Liver Transplantation: A 10-Year Single-Center Study.

Transplant international : official journal of the European Society for Organ Transplantation
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Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.

Clinical nephrology. Case studies
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Characterising the heterogeneity of heart failure with preserved ejection fraction: moving beyond subgroups and distinguishing disease from risk.

European journal of heart failure
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Renal Venous Hypertension and Kidney Dysfunction: Implications for Clinical Practice.

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Cureus
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Multifactorial Predictors of Renal Outcomes in Alport Syndrome: Integrating Genetic, Clinical, and Cystic Phenotypes.

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Leukemia research reports
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Association between ventilatory ratio and subsequent development of severe late acute kidney injury in acute respiratory distress syndrome.

Medicina intensiva
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Eculizumab Successfully Rescues Against de novo Atypical Hemolytic Uremic Syndrome Following Retransplantation.

Transplantation proceedings
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Importance of hypochloremia in patients with acute heart failure: should decongestive therapy be tailored based on this condition?

Revista clinica espanola
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Prognostic Value of Leuko-glycemic Index as a Marker of Immediate Postoperative Events After Repair of Complete Atrioventricular Septal Defect in Infants With Down Syndrome.

Journal of cardiothoracic and vascular anesthesia
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Refractive Changes Associated With Pediatric Kidney Transplantation.

Pediatric transplantation
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The SGLT2 inhibitor checklist: a comprehensive review of perioperative and acute phase safety management.

Frontiers in endocrinology
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Beyond Blood Pressure: Salt Sensitivity as a Cardiorenal Phenotype-A Narrative Review.

Life (Basel, Switzerland)
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Current Appraisal and Gaps in Knowledge in Cardio-Kidney Metabolic Syndrome Definition.

International journal of molecular sciences
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Nutritional Disorders and Metabolic Adaptations in Dromedary Camels: Insights into Foregut Fermentation and Mineral Balance.

Animals : an open access journal from MDPI
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Oxalate nephropathy from untreated pancreatic insufficiency in a neuroendocrine tumour patient.

BMJ case reports
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BCMA-Directed CAR T-Cell Therapy in Patients with Relapsed/Refractory Multiple Myeloma and Renal Impairment.

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Tryptophan metabolism reprogramming potentially contributes to the prothrombotic milieu in mice and humans with SARS-CoV-2.

Blood vessels, thrombosis & hemostasis
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Pauci-Immune Crescentic Glomerulonephritis Associated With Primary Sjögren Syndrome: A Case Report.

Cureus
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Refractory Rickets: Evaluation and Management.

Indian journal of pediatrics
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BMJ case reports
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Overview of Best Practices and Complications in Hemodialysis Access.

Cardiology in review
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Frontiers in pharmacology
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JHEP reports : innovation in hepatology
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Nature reviews. Cardiology
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Bradycardia, Renal Dysfunction, Atrioventricular Node Blockade, Shock, and Hyperkalemia (BRASH) Syndrome: Clinical Features, Outcomes, and Therapeutic Implications.

Cureus
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Massive Pericardial Effusion and Type 3 Cardiorenal Syndrome as the Inaugural Presentation of Late-Onset Systemic Lupus Erythematosus in a Septuagenarian.

Cureus
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Frontiers in immunology
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Results of a national survey on the diagnosis of heart failure in nephrology clinics: a call to action.

Nefrologia
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Telomere recapping via gene therapy as a beneficial strategy for cardio-renal syndrome type 4.

Kidney international
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Do preoperative low triiodothyronine levels affect early kidney injury after coronary artery bypass grafting? A retrospective study.

Cardiovascular journal of Africa
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Outcomes and predictors of kidney failure in elderly patients with biopsy-proven IgA nephropathy.

Renal failure
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Cardiovascular-kidney-metabolic interplay in patients with atrial fibrillation receiving direct oral anticoagulants.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
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Terlipressin in paediatric hepatorenal syndrome-acute kidney injury (HRS-AKI).

Pediatric nephrology (Berlin, Germany)
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Pediatric Crush Syndrome and Injury Profiles in Earthquake Survivors: A Comprehensive Analysis From the 2023 Turkey Earthquake.

Journal of evaluation in clinical practice
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Obesity paradox in patients with non-ST-elevation myocardial infarction undergoing percutaneous coronary intervention: A nationwide retrospective observational study.

American heart journal plus : cardiology research and practice
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Neutrophil Gelatinase-Associated Lipocalin Drives Cardiac Remodeling in Rats With Chronic Kidney Disease.

Hypertension (Dallas, Tex. : 1979)
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Pediatric nephrology (Berlin, Germany)
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Fatal Hyperphosphatemia After a Single Phosphate Enema in Ogilvie Syndrome.

Cureus
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CEN case reports
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European journal of anaesthesiology and intensive care
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MELAS Syndrome Presenting with Hypertrophic Cardiomyopathy and Advanced Heart Failure: A Multisystem Diagnostic Challenge.

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Annals of medicine and surgery (2012)
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Science translational medicine
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The American journal of case reports
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Frontiers in veterinary science
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Case reports in hematology
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Acute Kidney Injury Following Vaccine-Induced Thrombotic Microangiopathy.

European journal of case reports in internal medicine
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Concurrent Idiopathic Multicentric Castleman Disease with TAFRO and Sjögren's Syndrome in a Young Patient: A Challenging Diagnostic Overlap.

European journal of case reports in internal medicine
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Causal demonstration of adiposity-induced adipose-specific signaling derangements in the pathogenesis of the clinical features of the cardiovascular-kidney metabolic syndrome.

Cardiovascular diabetology
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The role of thoracic ultrasound in fluid management in critical care: a narrative review.

Journal of thoracic disease
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The Intersection of Heart Failure and Chronic Kidney Disease: Challenges in Co-management.

Cureus
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Cureus
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Transplantation proceedings
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Targeting GLP1 receptor for reducing global cardiovascular risk.

Journal of translational medicine
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Medical mycology case reports
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Renal failure
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Early-onset kidney failure in a girl with autosomal dominant tubulointerstitial kidney disease due to a de novo UMOD variant.

CEN case reports
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BMC global and public health
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Vitamins and hormones
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Leptospirosis-associated pulmonary hemorrhagic syndrome: immune mechanisms, clinical manifestations, and experimental models.

Revista do Instituto de Medicina Tropical de Sao Paulo
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BMC nephrology
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CEN case reports
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Neurologic Manifestations of Renal and Electrolyte Disorders.

Continuum (Minneapolis, Minn.)
2026

Real-World Effectiveness of Ravulizumab Among C5 Inhibitor-Naive Patients With Atypical Hemolytic Uremic Syndrome: A Physician Panel-Based Chart Review (aHUS IMPACT Study).

Kidney medicine
2026

Abdominal compartment syndrome following chemotherapy-induced gastrointestinal mucositis: a case report.

Frontiers in medicine
2025

Weeping Wound, Disgruntled Gut and Fading Hunger: Acrodermatitis Enteropathica in an Infant.

Cureus
2025

Disease-modifying effects of iron deficiency in mouse models of chronic renal failure.

Blood. Red cells & iron
2026

An Extremely Low-Birth-Weight Infant With Bone Fragility Due to Fanconi Syndrome.

Kidney medicine
2026

Cellular Interactions and Immunometabolic Mechanisms in Heart Failure With Preserved Ejection Fraction: From Molecular Mechanisms to Clinical Evidence.

Circulation. Heart failure
2026

High-intensity interval training attenuates the progression of diastolic and skeletal muscle dysfunction in the two-hit mouse model of HFpEF.

Life sciences
2026

Evolving Mineralocorticoid Receptor Antagonism: a Narrative Review on Differences between Steroidal MRAs, Non-Steroidal MRAs and Aldosterone Synthase Inhibitors in Cardiorenal Disease.

Current heart failure reports
2026

Prognostic Significance of Noninvasive Simultaneous Renal and Cardiac Perfusion: Interrogating Mechanisms of Cardiovascular-Kidney Interactions.

Circulation. Cardiovascular imaging
2026

Life's essential 8 scores and acute myocardial infarction: Associations with risk, onset delay, and scenario-based preventable fraction estimates.

American journal of preventive cardiology
2026

Deciphering the complexity: a case of kidney failure with co-inheritance of COL4A5 and APOE variants.

BMC nephrology
2026

Cutting Balloon Angioplasty for Resistant Pediatric Renal Artery Stenosis: A Single Institutional Experience.

Journal of vascular and interventional radiology : JVIR
2026

Incidence and outcomes of stage 3 acute kidney injury in the setting of pediatric trauma: a trauma quality improvement program analysis.

Pediatric nephrology (Berlin, Germany)
2026

Timely surgical intervention and risk stratification in patients with Ebstein anomaly: a 20-year retrospective cohort study.

International journal of surgery (London, England)
2026

From dog bite to dialysis: complement-mediated haemolytic uraemic syndrome .

BMJ case reports
2026

Acthar Gel versus standard of care for adults with proteinuria in nephrotic syndrome due to focal segmental glomerulosclerosis: cost-per-response analysis from the US healthcare perspective.

Journal of comparative effectiveness research
2025

Chloramphenicol-induced gray baby syndrome: case report and review of current literature.

Frontiers in pediatrics
2025

Headache as the initial symptom in two cases of multiple myeloma: a case report and literature review.

Frontiers in oncology
2025

The right heart perspective in chronic cardiorenal syndrome: the key role of right heart function and tricuspid regurgitation innovation.

Frontiers in cardiovascular medicine
2026

A lethal combination: fulminant liver failure due to Babesia microti and Borrelia burgdorferi co-infection.

Therapeutic advances in infectious disease
2026

Physical Frailty Versus the MECKI Score in Risk Stratification of Patients with Advanced Heart Failure: Simpler Measure, Similar Insights?

Journal of clinical medicine
2026

Metabolic Dysfunction at the Core: Revisiting the Overlap of Cardiovascular, Renal, Hepatic, and Endocrine Disorders.

Life (Basel, Switzerland)
2026

Chronic Kidney Disease in Metabolic Disease: Regulation of SGLT2 and Transcriptomic-Epigenetic Effects of Its Pharmacological Inhibition.

International journal of molecular sciences
2026

Comparison of the Clinical Course, Management and Outcomes of Acute Pancreatitis in Aged and Young Patients.

Biomedicines
2026

Late Cervical Recurrence of Invasive Lobular Carcinoma Ten Years After Primary Breast Cancer: A Case Report and Review of the Literature.

Healthcare (Basel, Switzerland)
2026

Mid-Term Results of the Multicenter CAMPARI Registry Using the E-Liac Iliac Branch Device for Aorto-Iliac Aneurysms.

Journal of cardiovascular development and disease
2026

IgA Nephropathy in Adults: A Review.

JAMA
2026

Necrotizing pneumonia due to blastomycosis: Diagnostic challenges and the emerging role of cell-free DNA testing.

IDCases
2025

Sarcopenia and cognitive performance in hospitalized older adults: evidence of an association.

Frontiers in dementia
2025

Sequential Bilateral Central Retinal Vein Occlusion With Differential Long-Term Outcomes Following Cardiac Surgery.

Cureus
2026

Salvaging sepsis-associated atypical hemolytic uremic syndrome with terminal complement blockade: A case report.

Medicine
2026

Outcomes of High-Voltage Versus Low-Voltage Electrical Injuries: Analysis From 25 Years of Experience in a Single Medical Center.

Annals of plastic surgery
2026

[From a simple skin rash to kidney injury: A case of post-measles glomerulonephritis].

Nephrologie & therapeutique
2026

Post-intensive care syndrome after critical illness: incidence and predictors in a nationwide cohort.

Anaesthesia
2025

Therapeutic Plasma Exchange in Pediatric Intensive Care and Brief Overview of the Literature.

Sisli Etfal Hastanesi tip bulteni
2025

Hyperferritinemia Drives Risk: Unravelling the Association Between Ferritin Levels and Multi-Organ Dysfunction in Acute Febrile Illness: An Emergency Medicine Perspective.

Cureus
2025

TAFRO syndrome requiring combined IL 6 and IL 1 inhibition: a case report.

Frontiers in immunology
2026

Beyond the breast: Mammographic manifestations of systemic disease.

Current problems in diagnostic radiology
2026

Management of Dialysis for Patients Receiving Mechanical Circulatory Support.

Journal of the American Society of Nephrology : JASN
2025

Severe Maternal Morbidity and Long-Term Kidney Outcomes among Pregnant Women Receiving Maintenance Dialysis.

Journal of the American Society of Nephrology : JASN
2025

Modulation of the Apolipoprotein M/S1PR4 Pathway Reduces Podocyte Lipid Overload in Alport Syndrome via Distinct Autophagy and Efflux Mechanisms.

Journal of the American Society of Nephrology : JASN
2025

Diuretic resistance in cardiorenal syndrome: mechanisms, monitoring and phenotype-tailored management.

Frontiers in cardiovascular medicine
2026

Fatal obstructive uropathy secondary to neglected benign prostatic hyperplasia: A medico-legal case report.

Medicine
2026

Coincidence of autosomal dominant polycystic kidney disease and Alport syndrome: a case report and literature review.

CEN case reports
2025

The Hepato-Cardio-Renal Axis in Cirrhosis: Hemodynamic and Mechanistic Insights, Diagnostic Biomarkers, and Expanding Therapeutic Horizons.

Discoveries (Craiova, Romania)
2026

[Paradigm shift in the treatment of chronic hyperkalaemia to optimise cardiorenal patient prognosis].

Deutsche medizinische Wochenschrift (1946)
2026

Acute coronary syndrome as a turning point for guideline adherence and outcomes in heart failure with coronary artery disease and diabetes mellitus.

European journal of clinical pharmacology
2026

Recurrent diffuse alveolar hemorrhage in Immunoglobulin A vasculitis.

Respiratory medicine case reports
2026

Reoperative robotic laparoscopic extracorporeal stent implantation following the failure of endovascular stent implantation for nutcracker syndrome.

Journal of vascular surgery cases and innovative techniques
2025

Case Report: Possible C3 nephritic factor-driven complement-mediated severe hemolytic anemia and acute kidney injury in a child with Bordetella parapertussis infection.

Frontiers in immunology
2026

Neural Upregulation of SGLT2-MAP17-PDZK1 Complex in Kidneys of Rats With Heart Failure.

Hypertension (Dallas, Tex. : 1979)
2026

Ruxolitinib in relapsed/refractory TAFRO syndrome: a report of two cases, including one positive for Epstein-Barr virus, and a literature review.

International journal of hematology
2026

Intradialytic kinetics of cardiac biomarkers during high-flux haemodialysis and postdilution haemodiafiltration: study protocol for a randomised crossover trial.

BMJ open
2026

Multi-omics profiling reveals CKM syndrome severity as a gradient risk factor for cancer: A prospective cohort study.

Metabolism: clinical and experimental
2026

Donor Screening Failure for Strongyloides stercoralis in Solid Organ Transplantation.

Emerging infectious diseases
2026

Applications of Venous Excess Ultrasound Score (VExUS) in Volume Status Assessment in Patients With Acute Decompensated Heart Failure and Cardiorenal Syndrome.

Cardiology in review
2026

GDF-15 as an integrative cardiometabolic biomarker.

Clinica chimica acta; international journal of clinical chemistry
2026

The Impact of Chronic Kidney Disease on In-Hospital Outcomes in Patients With Acute Respiratory Distress Syndrome.

Canadian respiratory journal
2026

Extracorporeal membrane oxygenation for pulmonary arterial hypertension complicating pregnancy: case series and literature review.

BMC pregnancy and childbirth
2026

Sustained response to minimal-dose tagraxofusp in a patient with BPDCN and advanced chronic kidney disease.

Annals of hematology
2026

Retrospective cohort evaluation of renal involvement in non-HIV castleman disease patients from a single academic center in Beijing, China.

Annals of hematology
2026

Peak strain dispersion as a nonlinear mediator in HFpEF: Unraveling subtype-specific pathways via SHAP-augmented ensemble modeling.

PLoS computational biology
2026

Redefining Shiga toxin-induced human cell death as NLRP1- and gasdermin E-mediated pyroptosis.

Proceedings of the National Academy of Sciences of the United States of America
2026

What to do with key cardiovascular drugs when kidney function worsens?

Clinical kidney journal
2026

Alport Syndrome is a Partial Tubulointerstitial Disease of the Kidney.

Kidney international reports
2026

Potential host-gut microbiota-metabolite associations in cardiorenal syndrome progression: a multi-omics integrative analysis.

BMC microbiology
2025

Gas chromatography-mass spectrometry-based plasma metabolomics analysis in hypertensive patients with Yin deficiency and Yang hyperactivity syndrome.

World journal of experimental medicine
2025

Fatal Multiorgan Dysfunction Syndrome Secondary to Cocaine Toxicity.

Cureus
2025

Non-invasive Ventilation in Adult Cancer Patients With Acute Respiratory Failure: A Systematic Review of Clinical Outcomes and Predictors of Failure.

Cureus
2025

All-comEr Registry of OCT (AERO) to Investigate the MLD-MAX Algorithm for OCT-guided-precision-PCI in Daily Routine: Rationale and Study Design of ILUMIEN-V-AERO.

Interventional cardiology (London, England)
2026

Mysterious Lung Nodules in a Case of Primary Sjogren Syndrome.

Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2026

Twenty years of pediatric vascular surgery consultations and interventions at a tertiary academic center.

Journal of vascular surgery
2026

Epidemiology, clinical outcomes and mortality-associated factors of staphylococcal pneumonia in hospitalized Thai children: A nationwide retrospective analysis 2015-2023.

Journal of infection and public health
2026

McCune-Albright Syndrome as a Rare Cause of Fanconi Syndrome and Kidney Failure: A Case Report and Literature Review.

Kidney medicine

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. High-grade follicular B-cell lymphoma-associated C3 rapidly progressive glomerulonephritis: a rare association.
    BMJ case reports· 2026· PMID 41839518mais citado
  2. Renal Hemodynamics Underlie Hepatorenal Physiology in Bile Duct-Ligated Rats.
    Clinical science (London, England : 1979)· 2026· PMID 41837664mais citado
  3. Biomarkers for Screening and Diagnosis of Heart Failure in Cardiovascular-Kidney-Metabolic Syndrome: A Narrative Review.
    International journal of molecular sciences· 2026· PMID 41828678mais citado
  4. Label-Free Detection of Molecular Signatures in Heart Failure with Preserved Ejection Fraction Using Raman Micro-Spectroscopy.
    International journal of molecular sciences· 2026· PMID 41828390mais citado
  5. Current Appraisal and Gaps in Knowledge in Cardio-Kidney Metabolic Syndrome Definition.
    International journal of molecular sciences· 2026· PMID 41751792mais citado
  6. TAFRO syndrome requiring combined IL 6 and IL 1 inhibition: a case report.
    Front Immunol· 2025· PMID 41567192recente
  7. Multi-omics profiling reveals CKM syndrome severity as a gradient risk factor for cancer: A prospective cohort study.
    Metabolism· 2026· PMID 41544799recente
  8. Unmasking nonspecific pain - clinical clues and diagnostic challenges in acute aortic syndromes: Case series.
    Medicine (Baltimore)· 2025· PMID 41305776recente
  9. An acute presentation of Wunderlich's syndrome with angiomyolipoma: a case report.
    J Med Case Rep· 2025· PMID 41094664recente
  10. Association of Osteopontin and selective glomerular hypofiltration syndrome with hospitalization for kidney failure in acute heart failure patients.
    BMC Nephrol· 2025· PMID 41053620recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:254902(Orphanet)
  2. MONDO:0016811(MONDO)
  3. GARD:17231(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q26492806(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Tubulopatia renal - encefalopatia - insuficiência hepática
Compêndio · Raras BR

Tubulopatia renal - encefalopatia - insuficiência hepática

ORPHA:254902 · MONDO:0016811
CID-10
E88.8 · Outros distúrbios especificados do metabolismo
CID-11
Início
Infancy, Neonatal
MedGen
UMLS
C4274075
Wikidata
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