Uma doença metabólica hereditária causada por um problema no transporte de glicose.
Introdução
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Uma doença metabólica hereditária causada por um problema no transporte de glicose.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 34 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 83 características clínicas mais associadas, ordenadas por frequência.
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
3 genes identificados com associação a esta condição.
Electrogenic Na(+)-coupled sugar symporter that actively transports D-glucose at the plasma membrane, with a Na(+) to sugar coupling ratio of 1:1 (PubMed:20980548, PubMed:28592437, PubMed:34880493, PubMed:37217492, PubMed:38057552). Transporter activity is driven by a transmembrane Na(+) electrochemical gradient set by the Na(+)/K(+) pump (PubMed:20980548, PubMed:28592437, PubMed:34880493). Unlike SLC5A1/SGLT1, requires the auxiliary protein PDZK1IP1/MAP17 for full transporter activity (PubMed:3
Apical cell membrane
Renal glucosuria
A disorder characterized by persistent isolated glucosuria, normal fasting serum glucose concentration, decreased renal tubular resorption of glucose from the urine, and absence of any other signs of tubular dysfunction.
Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake (PubMed:10227690, PubMed:10954735, PubMed:18245775, PubMed:19449892, PubMed:25982116, PubMed:27078104, PubMed:32860739). Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses (PubMed:18245775, PubMed:19449892). Most important energy carrier of the brain: present at the blood-brain barrier and assures the energy-independent, facilitative trans
Cell membraneMelanosomePhotoreceptor inner segment
GLUT1 deficiency syndrome 1
A neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe intellectual disability.
Electrogenic Na(+)-coupled sugar symporter that actively transports D-glucose or D-galactose at the plasma membrane, with a Na(+) to sugar coupling ratio of 2:1. Transporter activity is driven by a transmembrane Na(+) electrochemical gradient set by the Na(+)/K(+) pump (PubMed:20980548, PubMed:34880492, PubMed:35077764, PubMed:8563765, PubMed:37217492). Has a primary role in the transport of dietary monosaccharides from enterocytes to blood. Responsible for the absorption of D-glucose or D-galac
Apical cell membrane
Congenital glucose/galactose malabsorption
Intestinal monosaccharide transporter deficiency. It is an autosomal recessive disorder manifesting itself within the first weeks of life. It is characterized by severe diarrhea and dehydration which are usually fatal unless glucose and galactose are eliminated from the diet.
Variantes genéticas (ClinVar)
673 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
8 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 — Doença do transporte da glicose
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Novel drugs targeting genetic variants: current applications and future prospects in heart failure treatment.
Este artigo resume as **recentes inovações no tratamento da insuficiência cardíaca crônica**, focando em **novos medicamentos que visam mecanismos genéticos** e representam uma mudança significativa nos cuidados. Para médicos e pacientes, o estudo detalha o funcionamento e os dados clínicos de diversas opções, como os **inibidores de SGLT2 (relevantes por seu impacto no transporte de glicose)**, inibidores de neprilisina do receptor de angiotensina (ARNIs) e ativadores de miosina cardíaca. A análise avalia o valor clínico e os desafios dessas novas terapias para aprimorar as decisões de tratamento.
🇧🇷 traduzidop38MAPK protects against myocardial ischemia-reperfusion injury by regulating GLUT4 expression and translocation through MEF2A/MEF2C in isolated rat heart.
A lesão de isquemia-reperfusão do miocárdio (MIRI), uma complicação crítica em cirurgias cardíacas, compromete gravemente a captação de glicose pelo coração. Este estudo revelou que a proteína p38MAPK exerce um efeito protetor, mantendo a expressão e o transporte do importante transportador de glicose GLUT4 para a membrana celular através de uma via de sinalização específica (MEF2A/C), crucial para a energia cardíaca. Assim, ativar essa via de p38MAPK pode representar uma nova estratégia terapêutica para proteger o músculo cardíaco de pacientes submetidos a procedimentos invasivos.
🇧🇷 traduzidoSweat components as a promising monitoring tool for systemic diseases.
O suor, além de regular a temperatura, é um fluido biológico complexo que reflete o estado de saúde geral do corpo. Sua composição muda significativamente em diversas doenças sistêmicas, como distúrbios metabólicos (incluindo aqueles relacionados ao transporte de glicose), endócrinos e imunológicos. Monitorar alterações em componentes do suor como glicose, eletrólitos e proteínas oferece uma ferramenta promissora e não invasiva para médicos e pacientes no diagnóstico e acompanhamento dessas condições.
🇧🇷 traduzidoMASLD as a systemic metabolic disease: expanding the scope of cardiovascular-kidney-metabolic (CKM) syndrome.
A Doença Hepática Gordurosa Associada à Disfunção Metabólica (MASLD) é uma condição comum do fígado que, na verdade, é uma doença metabólica sistêmica, aumentando significativamente o risco de problemas cardíacos e renais. Frequentemente subdiagnosticada, a MASLD precisa ser vista como parte integral de uma síndrome mais ampla que envolve coração, rins e metabolismo, propondo um novo modelo "Cardiovascular-Renal-Hepático-Metabólico" (CKLM). Esta nova abordagem visa melhorar o diagnóstico precoce, promover um cuidado multidisciplinar coordenado e aproveitar o potencial de tratamentos eficazes (como agonistas de GLP-1 e inibidores de SGLT2) que beneficiam não só o fígado, mas também o coração e os rins, resultando em melhores resultados de saúde para o paciente.
🇧🇷 traduzidoCondition of calves on arrival at dairy-beef calf-raising farms in the Midwestern US.
Este estudo transversal revela que quase metade (48,3%) dos bezerros de corte-leiteiro nos EUA chegam às fazendas de criação hipoglicêmicos (com baixos níveis de glicose no sangue) após serem transportados, indicando baixas reservas de energia. Esta condição está fortemente associada à falha na transferência de imunidade passiva (FTPI) e à presença de doenças clínicas como diarreia e desidratação. Para veterinários e criadores, estes achados sublinham a importância de monitorizar proativamente os níveis de glicose e o estado imunitário na chegada, visando melhorar o bem-estar e a produtividade a longo prazo destes animais.
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Frontiers in endocrinologyPrevalence and outcomes of DKA in type 1 and type 2 DM patients treated and not treated with SGLT-2 inhibitors.
Diabetic medicine : a journal of the British Diabetic AssociationEmpagliflozin Attenuates Cardiac Fibrosis by Suppressing Fibroblast-Mediated C-C Motif Chemokine Ligand 2 Expression.
Journal of the American Heart AssociationEthanol Alters DNMT1/3a/3b Expression Profile, Promotes Persistent DNA Hypomethylation in Human Brain Endothelial Cells and Impairs Late Cortical Angiogenesis.
Journal of neurochemistryCharacteristics of Veterans with CKD Using a Telenephrology Program in the Veterans Health Administration.
Clinical journal of the American Society of Nephrology : CJASNStatins halt polycystic liver disease by reprogramming metabolism and normalizing mitochondrial bioenergetics in cystic cholangiocytes.
Hepatology (Baltimore, Md.)SGLT2 inhibitors preserve serum chloride in non-diabetic CKD: a propensity-matched and LASSO regression analysis.
Renal failureSignal-Level Determinants of Cognitive Decline With PPIs versus H2RAs: Transportome (CBLIF/TCN2) and CHRNA7 Nodes.
Molecular nutrition & food researchEnhancing evidence-based care using trial emulation in electronic health records: real-world effects of empagliflozin in people with type 2 diabetes.
BMJ open diabetes research & careDorzagliatin shows potential in preventing cognitive impairment in diabetes: evidence from Mendelian randomization analysis and animal study.
Frontiers in endocrinologyBee pollen-derived peptide with dual DPP-IV Inhibition and glucose transport modulation.
Scientific reportsAtypical protein kinase C activation drives intestinal glucose excretion in diabetes mellitus.
Nature communicationsUSP20-RAB8A signaling axis restricts pancreatic cancer progression by disrupting GLUT1 vesicular trafficking and inhibiting glucose uptake.
Cancer lettersTranslational roadmap of BBB-targeted nanoparticle strategies for neuroregenerative therapy in neurodegenerative diseases.
Biomaterials scienceReprogramming of host energy metabolism mediated by the TNF-iNOS-HIF-1α axis plays a key role in host resistance to Plasmodium infection.
bioRxiv : the preprint server for biologyEstimation of metabolic water production in human and rat brain and spinal cord.
Fluids and barriers of the CNSChronic Kidney Disease, Nutrition, and the Brain: How to Maintain Brain Health Through Nutrition in Chronic Kidney Disease.
Journal of renal nutrition : the official journal of the Council on Renal Nutrition of the National Kidney FoundationDapagliflozin targets RORγt to improve myocardial ischemia-reperfusion injury-induced heart failure by regulating the CD4+ T cell/Th17 cell axis within cardiac tissue.
Biochimica et biophysica acta. Molecular basis of diseaseInfluence of chronic obstructive pulmonary disease on cardiovascular outcomes and mortality benefits of sodium glucose co-transporter inhibitors in heart failure patients: A systematic review and meta-analysis.
Respiratory medicineExploring the Therapeutic Potential of Sodium-Glucose Cotransporter-2 Inhibitors and Glucagon-Like Peptide-1 Receptor Agonists in Metabolic Dysfunction-Associated Steatotic Liver Disease and Metabolic Dysfunction-Associated Steatohepatitis in Patients with Type 2 Diabetes: A Narrative Review.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolismeSingle-Cell Multimodal Profiling Highlights Persistent Aortic Smooth Muscle Cell Changes in Diabetic Mice Despite Glycemic Control.
Arteriosclerosis, thrombosis, and vascular biologyPerioperative management with close renal function monitoring in a dental patient receiving SGLT2 inhibitor therapy for non-diabetic chronic kidney disease.
Journal of dental anesthesia and pain medicineMild hypothermia (35°C) reduces myocardial ischemia-reperfusion injury and attenuates hypoxia induced apoptosis of H9C2 cardiomyocytes by changing the phosphorylation level of Connexin43 (Cx43) protein.
African health sciencesThe role of glucagon-like peptide-1 receptor agonists and sodium-glucose cotransporter-2 inhibitors in chronic obstructive pulmonary disease.
Expert review of clinical immunologyIn search of "what really matters": Insights from a web-based survey on Patient-Centered Outcomes in GLUT1DS.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyNovel diethylthiosulfinate suppresses postharvest peach brown rot in vitro and vivo by disrupting carbon metabolism and virulence pathways in Monilinia fructicola.
International journal of food microbiologyImplementation of a peer mentorship program for type 1 diabetes in Canada: A qualitative analysis of peer mentor perspectives.
Patient education and counselingCardiorenal and Metabolic Dimensions of Cardiomyopathies and Heart Failure: Focus on SGLT2i, GLP1-RA, and ns-MRA.
Current cardiology reportsTherapeutic effects of vitamin D and intermittent fasting on metabolic associated steatotic liver disease in rats.
Scientific reportsChronic NH4Cl loading improves glucose tolerance without modifying insulin sensitivity in mice.
Scientific reportsAcute effects of selective serotonin reuptake inhibitors on cerebral glucose metabolism and blood flow.
Translational psychiatryFolate receptor 1 activation suppresses high glucose-induced amyloidogenesis in neurons via STAT3/Nrf2 pathway-dependent mitigation of mitochondrial oxidative stress.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieTargeting mitochondrial quality control in diabetic kidney disease: emerging therapeutic opportunities.
Renal failureDiabetic Kidney Disease: From Pathophysiology to Treatment Perspectives.
Kidney & blood pressure researchBioinformatics study of the pharmacological mechanism of sodium-glucose co-transporter 2 inhibitors in type 2 diabetes mellitus and coronary heart disease based on network pharmacology.
MedicineProviding a supplemental source of water or a trace-mineral-based drinking solution upon feedlot arrival affects intake, growth performance, and health of newly received finishing calves.
Journal of animal scienceCholecystectomy inhibits fasting hepatic fatty acid oxidation in mice.
Communications biologyThe eGFR Slope After Starting Therapy with Empagliflozin in a Cohort of Patients with Diabetes and Stage 3 CKD: Is It Really an Issue? TEMPOREALE Real-World Study.
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologiaUse of SGLT2 inhibitors and GLP-1 receptor agonists in patients with ischaemic heart disease and type 2 diabetes in Swedish primary care: a cross-sectional analysis of regional primary care registry data (QregPV).
BMJ openEmpagliflozin in combination with trandolapril but not with triple therapy improves glucose and lipid metabolism in non-diabetic hypertensive model.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieKisspeptin improves local ovarian insulin resistance in PCOS by modulating the PI3K/AKT/GLUT4 signaling pathway.
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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.
- Novel drugs targeting genetic variants: current applications and future prospects in heart failure treatment.
- p38MAPK protects against myocardial ischemia-reperfusion injury by regulating GLUT4 expression and translocation through MEF2A/MEF2C in isolated rat heart.
- Sweat components as a promising monitoring tool for systemic diseases.
- MASLD as a systemic metabolic disease: expanding the scope of cardiovascular-kidney-metabolic (CKM) syndrome.
- Condition of calves on arrival at dairy-beef calf-raising farms in the Midwestern US.
- Role of brain glycogen and glucose regulation in migraine susceptibility.
- Association of SGLT2 Inhibitor With Stroke in Type 2 Diabetes With Diabetic Retinopathy: A Multicenter Electronic Health Record Data Study.
- A two-step mechanism for sugar translocation.
- Gut microbiota and renal fibrosis: novel mechanistic insights and therapeutic potential.
- Astrocytic glucose metabolism regulates the survival of newborn hippocampal neurons in the adult brain.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79178(Orphanet)
- MONDO:0019226(MONDO)
- GARD:18957(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55788548(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
