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.
Introdução
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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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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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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.
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)
Mitochondrion inner membrane
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.
Variantes genéticas (ClinVar)
201 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Tubulopatia renal - encefalopatia - insuficiência hepática
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
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Renal Hemodynamics Underlie Hepatorenal Physiology in Bile Duct-Ligated Rats.
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.
Biomarkers for Screening and Diagnosis of Heart Failure in Cardiovascular-Kidney-Metabolic Syndrome: A Narrative Review.
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.
Label-Free Detection of Molecular Signatures in Heart Failure with Preserved Ejection Fraction Using Raman Micro-Spectroscopy.
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.
Current Appraisal and Gaps in Knowledge in Cardio-Kidney Metabolic Syndrome Definition.
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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Journal of the American Society of Nephrology : JASNModulation 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 : JASNDiuretic resistance in cardiorenal syndrome: mechanisms, monitoring and phenotype-tailored management.
Frontiers in cardiovascular medicineFatal obstructive uropathy secondary to neglected benign prostatic hyperplasia: A medico-legal case report.
MedicineCoincidence of autosomal dominant polycystic kidney disease and Alport syndrome: a case report and literature review.
CEN case reportsThe Hepato-Cardio-Renal Axis in Cirrhosis: Hemodynamic and Mechanistic Insights, Diagnostic Biomarkers, and Expanding Therapeutic Horizons.
Discoveries (Craiova, Romania)[Paradigm shift in the treatment of chronic hyperkalaemia to optimise cardiorenal patient prognosis].
Deutsche medizinische Wochenschrift (1946)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 pharmacologyRecurrent diffuse alveolar hemorrhage in Immunoglobulin A vasculitis.
Respiratory medicine case reportsReoperative robotic laparoscopic extracorporeal stent implantation following the failure of endovascular stent implantation for nutcracker syndrome.
Journal of vascular surgery cases and innovative techniquesCase Report: Possible C3 nephritic factor-driven complement-mediated severe hemolytic anemia and acute kidney injury in a child with Bordetella parapertussis infection.
Frontiers in immunologyNeural Upregulation of SGLT2-MAP17-PDZK1 Complex in Kidneys of Rats With Heart Failure.
Hypertension (Dallas, Tex. : 1979)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 hematologyIntradialytic kinetics of cardiac biomarkers during high-flux haemodialysis and postdilution haemodiafiltration: study protocol for a randomised crossover trial.
BMJ openMulti-omics profiling reveals CKM syndrome severity as a gradient risk factor for cancer: A prospective cohort study.
Metabolism: clinical and experimentalDonor Screening Failure for Strongyloides stercoralis in Solid Organ Transplantation.
Emerging infectious diseasesApplications of Venous Excess Ultrasound Score (VExUS) in Volume Status Assessment in Patients With Acute Decompensated Heart Failure and Cardiorenal Syndrome.
Cardiology in reviewGDF-15 as an integrative cardiometabolic biomarker.
Clinica chimica acta; international journal of clinical chemistryThe Impact of Chronic Kidney Disease on In-Hospital Outcomes in Patients With Acute Respiratory Distress Syndrome.
Canadian respiratory journalExtracorporeal membrane oxygenation for pulmonary arterial hypertension complicating pregnancy: case series and literature review.
BMC pregnancy and childbirthSustained response to minimal-dose tagraxofusp in a patient with BPDCN and advanced chronic kidney disease.
Annals of hematologyRetrospective cohort evaluation of renal involvement in non-HIV castleman disease patients from a single academic center in Beijing, China.
Annals of hematologyPeak strain dispersion as a nonlinear mediator in HFpEF: Unraveling subtype-specific pathways via SHAP-augmented ensemble modeling.
PLoS computational biologyRedefining 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 AmericaWhat to do with key cardiovascular drugs when kidney function worsens?
Clinical kidney journalAlport Syndrome is a Partial Tubulointerstitial Disease of the Kidney.
Kidney international reportsPotential host-gut microbiota-metabolite associations in cardiorenal syndrome progression: a multi-omics integrative analysis.
BMC microbiologyGas chromatography-mass spectrometry-based plasma metabolomics analysis in hypertensive patients with Yin deficiency and Yang hyperactivity syndrome.
World journal of experimental medicineFatal Multiorgan Dysfunction Syndrome Secondary to Cocaine Toxicity.
CureusNon-invasive Ventilation in Adult Cancer Patients With Acute Respiratory Failure: A Systematic Review of Clinical Outcomes and Predictors of Failure.
CureusAll-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)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 TransfusionTwenty years of pediatric vascular surgery consultations and interventions at a tertiary academic center.
Journal of vascular surgeryEpidemiology, clinical outcomes and mortality-associated factors of staphylococcal pneumonia in hospitalized Thai children: A nationwide retrospective analysis 2015-2023.
Journal of infection and public healthMcCune-Albright Syndrome as a Rare Cause of Fanconi Syndrome and Kidney Failure: A Case Report and Literature Review.
Kidney medicineAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Tubulopatia renal - encefalopatia - insuficiência hepática.
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Comunidades
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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.
- High-grade follicular B-cell lymphoma-associated C3 rapidly progressive glomerulonephritis: a rare association.
- Renal Hemodynamics Underlie Hepatorenal Physiology in Bile Duct-Ligated Rats.
- Biomarkers for Screening and Diagnosis of Heart Failure in Cardiovascular-Kidney-Metabolic Syndrome: A Narrative Review.
- Label-Free Detection of Molecular Signatures in Heart Failure with Preserved Ejection Fraction Using Raman Micro-Spectroscopy.
- Current Appraisal and Gaps in Knowledge in Cardio-Kidney Metabolic Syndrome Definition.
- TAFRO syndrome requiring combined IL 6 and IL 1 inhibition: a case report.
- Multi-omics profiling reveals CKM syndrome severity as a gradient risk factor for cancer: A prospective cohort study.
- Unmasking nonspecific pain - clinical clues and diagnostic challenges in acute aortic syndromes: Case series.
- An acute presentation of Wunderlich's syndrome with angiomyolipoma: a case report.
- Association of Osteopontin and selective glomerular hypofiltration syndrome with hospitalization for kidney failure in acute heart failure patients.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:254902(Orphanet)
- MONDO:0016811(MONDO)
- GARD:17231(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- 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
