Raras
Buscar doenças, sintomas, genes...
Doença do transporte da glicose
ORPHA:79178DOENÇA RARA

Uma doença metabólica hereditária causada por um problema no transporte de glicose.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Uma doença metabólica hereditária causada por um problema no transporte de glicose.

Publicações científicas
10.354 artigos
Último publicado: 2026 Apr 14
🏥
SUS: Sem cobertura SUSScore: 0%
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Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
17 sintomas
🫘
Rins
6 sintomas
🫃
Digestivo
6 sintomas
📏
Crescimento
6 sintomas
🦴
Ossos e articulações
4 sintomas
💪
Músculos
4 sintomas

+ 34 sintomas em outras categorias

Características mais comuns

Nefropatia
Diarreia crônica
Desidratação hipertônica
Acidose metabólica
Má absorção
Microcefalia secundária
83sintomas
Sem dados (83)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 83 características clínicas mais associadas, ordenadas por frequência.

NefropatiaNephropathy
Diarreia crônicaChronic diarrhea
Desidratação hipertônicaHypertonic dehydration
Acidose metabólicaMetabolic acidosis
Má absorçãoMalabsorption

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Total histórico10.354PubMed
Últimos 10 anos200publicações
Pico2026193 papers
Linha do tempo
2025Hoje · 2026🧪 1989Primeiro ensaio clínico
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

3 genes identificados com associação a esta condição.

SLC5A2Sodium/glucose cotransporter 2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Apical cell membrane

VIAS BIOLÓGICAS (1)
Cellular hexose transport
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Rim - Córtex
36.0 TPM
Rim - Medula
25.3 TPM
Testículo
16.0 TPM
Cérebro - Hemisfério cerebelar
1.1 TPM
Cerebelo
1.0 TPM
OUTRAS DOENÇAS (1)
familial renal glucosuria
HGNC:11037UniProt:P31639
SLC2A1Solute carrier family 2, facilitated glucose transporter member 1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Cell membraneMelanosomePhotoreceptor inner segment

VIAS BIOLÓGICAS (3)
Vitamin C (ascorbate) metabolismCellular hexose transportRegulation of insulin secretion
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Nervo tibial
703.8 TPM
Skin Not Sun Exposed Suprapubic
272.6 TPM
Skin Sun Exposed Lower leg
265.8 TPM
Vagina
176.1 TPM
Esôfago - Mucosa
154.8 TPM
OUTRAS DOENÇAS (8)
childhood onset GLUT1 deficiency syndrome 2hereditary cryohydrocytosis with reduced stomatindystonia 9encephalopathy due to GLUT1 deficiency
HGNC:11005UniProt:P11166
SLC5A1Sodium/glucose cotransporter 1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Apical cell membrane

VIAS BIOLÓGICAS (2)
Cellular hexose transportIntestinal hexose absorption
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Intestino delgado
97.9 TPM
Coração - Ventrículo esquerdo
45.4 TPM
Coração - Átrio
24.0 TPM
Glândula salivar
23.1 TPM
Skin Sun Exposed Lower leg
22.4 TPM
OUTRAS DOENÇAS (1)
glucose-galactose malabsorption
HGNC:11036UniProt:P13866

Variantes genéticas (ClinVar)

673 variantes patogênicas registradas no ClinVar.

🧬 SLC5A2: NM_003041.4(SLC5A2):c.1145T>G (p.Met382Arg) ()
🧬 SLC5A2: NM_003041.4(SLC5A2):c.1442A>T (p.Asn481Ile) ()
🧬 SLC5A2: NM_003041.4(SLC5A2):c.1665+2T>C ()
🧬 SLC5A2: NM_003041.4(SLC5A2):c.164A>G (p.Tyr55Cys) ()
🧬 SLC5A2: NM_003041.4(SLC5A2):c.283G>A (p.Val95Ile) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

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Pipeline de tratamentos
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3Fase 31
·Pré-clínico4
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
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🇧🇷 Atendimento SUS — Doença do transporte da glicose

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Novel drugs targeting genetic variants: current applications and future prospects in heart failure treatment.

Frontiers in molecular biosciences2026

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.

🇧🇷 traduzido
#2

p38MAPK protects against myocardial ischemia-reperfusion injury by regulating GLUT4 expression and translocation through MEF2A/MEF2C in isolated rat heart.

Life sciences2026 Mar 20

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.

🇧🇷 traduzido
#3

Sweat components as a promising monitoring tool for systemic diseases.

The journal of physiological sciences : JPS2026 Mar 15

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.

🇧🇷 traduzido
#4

MASLD as a systemic metabolic disease: expanding the scope of cardiovascular-kidney-metabolic (CKM) syndrome.

Science China. Life sciences2026 Mar 16

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.

🇧🇷 traduzido
#5

Condition of calves on arrival at dairy-beef calf-raising farms in the Midwestern US.

Journal of dairy science2026 Mar 16

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.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Dapagliflozin regulates autophagy in nephropathy associated with non-diabetic obesity via elevated plasma β-hydroxybutyrate levels.

The Biochemical journal
2026

Reamputation risk and mortality after lower-limb amputation in patients with diabetes: predictors, effects of antidiabetic medications and temporal trends.

Cardiovascular diabetology
2026

Aquaporin-4 suppresses neuronal pyroptosis after ischemic stroke via the IκBα/NF-κB signaling pathway.

Frontiers in immunology
2026

PCSK9 inhibitors improve lipid profile and hepatic steatosis surrogate indicators in patients with MAFLD and type 2 diabetes.

Frontiers in medicine
2026

Role of Sodium-Glucose Transport Protein-2 Inhibitors in Renal Protection: A Narrative Review from the Cardiovascular-Kidney-Metabolic Interconnection.

Drug design, development and therapy
2026

Novel drugs targeting genetic variants: current applications and future prospects in heart failure treatment.

Frontiers in molecular biosciences
2026

Is There a Role for Pentoxifylline in Diabetic Kidney Disease?

American journal of kidney diseases : the official journal of the National Kidney Foundation
2026

p38MAPK protects against myocardial ischemia-reperfusion injury by regulating GLUT4 expression and translocation through MEF2A/MEF2C in isolated rat heart.

Life sciences
2026

Early seizures and heterogeneity of physiologic recovery in heat-related illness: a nationwide registry study.

Critical care (London, England)
2026

Predictors of Discontinuation of Angiotensin Converting Enzyme Inhibitors Use Among Medicare Beneficiaries Using Sodium-Glucose Cotransporter 2 Inhibitors.

Pharmacoepidemiology and drug safety
2026

Role of liver X receptors in the pathogenesis and treatment of chronic liver disease (Review).

Molecular medicine reports
2026

Real-world evidence with dapagliflozin in heart failure with reduced ejection fraction in Central Eastern Europe and the Baltic region (EVOLUTION-HF CEE-BA Study).

ESC heart failure
2026

Sweat components as a promising monitoring tool for systemic diseases.

The journal of physiological sciences : JPS
2026

Quantifying the Age of Evidence: Lessons From Cardiovascular Drugs.

Journal of evaluation in clinical practice
2026

MASLD as a systemic metabolic disease: expanding the scope of cardiovascular-kidney-metabolic (CKM) syndrome.

Science China. Life sciences
2026

Combined Empagliflozin and Sacubitril/Valsartan Therapy Additively Improves Cardiorenal Function Through AMPK Activation and Angiotensin II Type 1 Receptor Signaling Attenuation in a Rat Model of Cardiorenal Syndrome.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2026

Condition of calves on arrival at dairy-beef calf-raising farms in the Midwestern US.

Journal of dairy science
2025

Efficacy and Safety of Sodium-Glucose Cotransporter 2 Inhibitors (SGLT2i) in Cardiac Amyloidosis: A Systematic Review.

La Tunisie medicale
2025

Early Dapagliflozin in Non-diabetic Acute Myocardial Infarction Patients Post-PCI: Effects on Cardiovascular Outcomes and Left Ventricular Remodeling (EARLY DAPA-AMI).

Journal of the Saudi Heart Association
2026

The differential expression of lipocalin-2 in pig tissues and its molecular mechanism of regulating cell viability, differentiation, adipogenesis, and glycometabolism in porcine intramuscular preadipocytes.

In vitro cellular & developmental biology. Animal
2026

Inosine promotes erythrocyte metabolic reprogramming and restores oxygen release for rejuvenation via 2,3-BPG-PNP axis.

Cell discovery
2026

The role of combining exercise with pharmacologic management of CKD: From SGLT2 and GLP-1 to broader therapeutic strategies.

Nephron
2026

Microglial fructose metabolism is essential for glioblastoma growth.

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

Mendelian Randomization Identified SLC2A9 as a Novel cis-eQTL-Mediated Susceptibility Gene in Suppressing Renal Cancer and Its Related Metabolic Mechanisms.

Mediators of inflammation
2026

The primary preventive effect of sodium-glucose cotransporter inhibitors on chronic kidney disease in patients with type 2 diabetes: a systematic review and meta-analysis.

Frontiers in endocrinology
2026

Diabetic retinopathy severity is associated with renal function deterioration in patients with diabetic kidney disease: a retrospective cohort study.

Frontiers in endocrinology
2026

KNDC1 attenuates fibrosis in nonalcoholic fatty liver disease by inhibiting glycolysis in hepatic stellate cells.

Cellular signalling
2026

Glycohypoxia: a hypothesis linking chronic hyperglycemia to functional hypoxia and diabetic complications in type 2 diabetes.

Medical gas research
2026

Clinical, practical, and psychosocial challenges of living with glucose transporter type 1 deficiency syndrome.

Seizure
2026

Early changes in kidney function in young adults: what is the significance?

Current opinion in nephrology and hypertension
2026

Prevalence of Overweight and Obesity in the Era of CFTR Modulators in Patients with Cystic Fibrosis.

Nutrients
2026

SOCS1 Mimetic Peptide Enhances Empagliflozin Improvement on Kidney Damage in the Type 2 Diabetes Mouse Model BTBR ob/ob.

International journal of molecular sciences
2026

Hypothesis: Nutrient Off-Loading and Ectopic Fat Reduction Reverse Insulin Resistance and Improve Cardiovascular Outcomes in Type 2 Diabetes-A Narrative Review.

International journal of molecular sciences
2026

A potential association of SLC2A9 variant rs7442295 with uric acid at baseline and in interaction with iloperidone.

The pharmacogenomics journal
2026

Epigenetic effects of alcohol consumption on type 2 diabetes.

Alcohol (Fayetteville, N.Y.)
2026

Maternal exposure to sucrose and maltodextrin alters metabolism and genotoxicity in mice offspring.

Mutation research
2026

Bone from Healthy Individuals and Patients with CKD Expresses the Sodium-Glucose Co-transporter-2 (SGLT2).

Calcified tissue international
2026

Treatment gaps in guideline-directed medical therapy for HFrEF in Singapore: findings from a multicentre retrospective cohort study.

BMJ open
2026

Empagliflozin and dapagliflozin, sodium glucose cotransporter 2 inhibitors, may improve cognitive dysfunctions: in silico and in vivo findings.

Behavioural brain research
2026

Future Directions and Innovations in Mineralocorticoid Receptor Antagonist Therapy.

The Journal of the Association of Physicians of India
2026

The SGLT2 Inhibitor Canagliflozin Promotes β-Cell Regeneration and Restores and Stabilises β-Cell Identity in a Polygenic Model of Severe Early-Onset Type 2 Diabetes.

Journal of cellular and molecular medicine
2026

Metabolically reprogrammed eosinophils impair T cell immunity and cause chronic skin infection.

EMBO molecular medicine
2026

Evaluation of a pharmacist-led medication review and optimisation service in the management of cardiometabolic disease.

European journal of hospital pharmacy : science and practice
2026

Sodium glucose co-transporter inhibition as a strategy to stabilize the microvasculature in sickle cell disease.

Cardiovascular research
2026

Beyond safety: adverse events and unanticipated advantages of SGLT2 inhibitors.

European journal of clinical pharmacology
2026

Untargeted Proteomics Profiling of Liver and Plasma in Fed and Fasted Liver-Specific Glycogen Storage Disease Type Ia (GSD Ia) Mice: Toward Potential Protein Biomarkers.

Journal of inherited metabolic disease
2026

Effect of the sodium glucose transporter-2 inhibitor dapagliflozin on urine and blood biomarkers in dogs with heart disease.

Journal of veterinary internal medicine
2026

Impact of SGLT2 inhibitors in patients with Fabry disease.

Clinical research in cardiology : official journal of the German Cardiac Society
2026

Impact of dapagliflozin on bone mineral metabolism in non-diabetic patients with chronic kidney disease: a randomized, double-blind, placebo-controlled study.

Clinical kidney journal
2026

Beyond expensive innovations: affordable and effective strategies for managing tubulopathies in adults.

Clinical kidney journal
2026

Gut-Derived Hippuric Acid Alleviates Hepatic Lipid Metabolism via UGDH/FOXK1/CD36 Axis in Obese Mice.

Drug design, development and therapy
2026

USP8 attenuates ischemic stroke by inhibiting the microglial NF-κB/NLRP3 inflammatory axis via TRAF6 deubiquitination.

International immunopharmacology
2026

Sodium-glucose Co-transporter 2 (SGLT2) inhibitor dapagliflozin acutely activates cardiomyocyte HIF-1α signaling via succinate, a signaling metabolite.

Journal of pharmacological sciences
2026

Neomycin-sensitive gut bacteria-derived brassicasterol mediates the anti-obesity effects of Cordyceps militaris polysaccharide.

Food research international (Ottawa, Ont.)
2026

Impact of risperidone and voluntary exercise on ketone body metabolism-related gene expression in the brain of female juvenile rats.

Behavioural brain research
2026

Chronic Pyraclostrobin Exposure-Induced Developmental Toxicity and ABC Transporter-Associated Metabolism Disorders during Zebrafish Embryo-Larval Stages.

Journal of agricultural and food chemistry
2026

Sodium-Glucose Cotransporter 2 Inhibitors for Metabolic Dysfunction-Associated Steatohepatitis.

Journal of diabetes
2026

Pax8-rtTA/LC1-Driven Inducible Ketohexokinase Deletion Protects Against High Fructose-Induced Metabolic Syndrome in Mice.

Acta physiologica (Oxford, England)
2026

SGLT2 inhibitors therapy in patients with acute Takotsubo syndrome.

International journal of cardiology
2026

CX3CR1/P2X4R signaling-mediated spinal microglial M1 polarization contributes to chronic pelvic pain in endometriosis.

International immunopharmacology
2026

Multi-dimensional evidence establishing the causal association between metabolic syndrome and gout and the molecular mechanisms of comorbidity.

Frontiers in immunology
2026

Pyroptosis-mediator Gasdermin D in serum: a potential biomarker in diabetic kidney disease.

Frontiers in endocrinology
2026

Integrative multi-omics analysis reveals cellular and molecular insights into gestational diabetes mellitus.

Frontiers in molecular biosciences
2026

A therapeutic role for a regulatory glucose transporter1 (GLUT1)-associated lncRNA in GLUT1-deficient mice.

The Journal of clinical investigation
2026

[Modern treatment of type 2 diabetes: 3 medications and 3 targets].

Praxis
2026

Glucagon-like peptide-1 receptor agonist reduces risk of alcohol-associated cirrhosis in type 2 diabetes and alcohol use disorder patients.

European journal of gastroenterology & hepatology
2026

The metabolic balancing act between fatty acid and glucose substrate use for optimal myocardial function: Key role for membrane substrate transporters.

American journal of physiology. Heart and circulatory physiology
2026

Factors Associated With Loop Diuretic De-escalation in Patients With Acute Decompensated Heart Failure: The Influence of Guideline Directed Medical Therapy Initiation.

Journal of cardiovascular pharmacology and therapeutics
2026

GPIHBP1 Autoantibody-Related Hypertriglyceridemia in a 12-Year-Old Girl With Systemic Lupus Erythematosus.

Case reports in endocrinology
2025

An experimental study on shrimp bioactive peptides restoring testicular function in a rat model of fatty liver disease via autophagy, redox balance, and energy transporters.

International journal of reproductive biomedicine
2026

Technology-enabled insights into SLC transporters in MAFLD: redefining the multi-hit pathogenesis and therapeutic landscape.

Acta pharmacologica Sinica
2026

Practical Guidance on Implementation of Guideline-Directed Medical Therapy in the Management of Heart Failure: Expert Opinion From the Middle East and Africa Region.

Journal of the American Heart Association
2026

Higher hemoglobin levels within reference interval are associated with elevated cardiometabolic traits in a birth cohort of 16-yr-old adolescents.

American journal of physiology. Endocrinology and metabolism
2026

Alport syndrome complicated with IgA nephropathy: a case report.

Frontiers in medicine
2026

Risk of Dementia in Patients With Type 2 Diabetes Using SGLT2 Inhibitors Versus DPP-4 Inhibitors: A Systematic Review and Meta-Analysis.

Endocrinology, diabetes & metabolism
2026

Aetiological Description of Urinary Tract Infections in Patients with Type 2 Diabetes and Construction of a Clinical Prediction Model: A Retrospective Study.

Archivos espanoles de urologia
2026

ALG8-Driven Metabolic Reprogramming in Polycystic Kidney Disease: A Systematic Synthesis of Evidence Linking Glycosylation Defects to Metabolic Signaling.

IUBMB life
2026

Predicting metabolic syndrome risk in Chinese adults using integrated features of movement behaviors and dietary intake: a machine learning approach.

BMC public health
2026

Association between SGLT2 inhibitors and recurrence of cerebrovascular events in patients with type 2 diabetes: A population-based cohort study.

Diabetes & vascular disease research
2026

Analyses of astrocyte-neuron lactate shuttle transporter levels in brain tissues from people with HIV-associated neurocognitive impairment and Alzheimer's disease.

NeuroImmune pharmacology and therapeutics
2026

Identifying Provider Prescribing Practices for GLP-1RAs and SGLT-2is in Patients With Type 2 Diabetes to Address Pharmacoinequity.

Journal of diabetes research
2026

Adaptive Responses to High-fructose Corn Syrup Intake Under Energy Restriction in Early Middle-aged Female Mice.

In vivo (Athens, Greece)
2026

Association of SGLT2 inhibitors and new-onset dementia in non-diabetic patients with heart failure.

European journal of heart failure
2026

[Prevention and screening in nephrology].

Innere Medizin (Heidelberg, Germany)
2026

SGLT2 Inhibitors Associated With Improved Kidney Function in Lithium-Treated Patients With Mood Disorders: A Real-World Historical Cohort Study.

Bipolar disorders
2026

Therapeutic Efficacy of S-Allyl-L-Cysteine an Active Constituent of Aged Garlic Extract in Rat Model of Gestational Diabetes Mellitus.

Cell biochemistry and function
2026

A Novel Autoimmune Presentation of Wiskott-Aldrich Syndrome: Type 1 Diabetes.

Immunity, inflammation and disease
2026

γ-Oryzanol Ameliorates Endothelial Replicative Senescence via Downregulation of SGLT2 Expression to Attenuate NADPH-Driven Oxidative Stress.

Biomolecules & therapeutics
2026

Computational Discovery of Novel SGLT2 Inhibitors from Eight Selected Medicine Food Homology Herbs Using a Multi-Stage Virtual Screening Pipeline.

Pharmaceuticals (Basel, Switzerland)
2026

PPAR-γ Activation Alleviates Intestinal Dysfunction and Lactose Malabsorption in Experimental Food Allergy Rats.

Nutrients
2026

Sex and Gender Differences in Chronic Kidney Disease-Explained by the Brenner-Luyckx Concept of Hyperfiltration.

Journal of clinical medicine
2026

New Treatment Options for MASLD Patients with Type 2 Diabetes.

Life (Basel, Switzerland)
2026

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

Life (Basel, Switzerland)
2026

Utilization Trends of SGLT2 Inhibitors in Croatian Clinical Practice: Observational Analysis.

Medicina (Kaunas, Lithuania)
2026

A Novel PPARG R212W Variant Causes Familial Partial Lipodystrophy Type 3: Clinical Presentation and Functional Characterization.

International journal of molecular sciences
2026

Mitigation of Ischemia/Reperfusion-Induced Acute Kidney Injury by Canagliflozin Is Associated with Altered Mitochondrial Dynamics and Reduced Proliferation in Swine.

Biomolecules
2026

Mechanisms of SGLT inhibitor action and physiological mediators: systematic review and protocol for the MOSAIC collaborative meta-analysis.

BMJ open
2026

The link between caveolae, metabolic syndrome, and cataractogenesis: A mechanistic hypothesis.

Experimental eye research
2026

Absolute Quantification of Full-Length 16S rRNA Amplicon Sequencing and Metabolomic Profiling of Red-Stipe Disease in Morel Fruiting Bodies.

Phytopathology
2026

Plasma Metabolites Associated with CKD Stage in Autosomal Dominant Tubulointerstitial Kidney Disease.

Kidney360
2026

Co-Exposure to Bisphenol A and a High-Fat Diet Induces Insulin Resistance via Suppression of Insulin Signaling Molecule Expression and GLUT4 Translocation.

Toxics
2026

Brain Ketone Bodies in Health, Evolution and Disease.

Cells
2026

Alternative methods for pharmacological research on the action mechanisms of natural products used in the treatment of type 2 diabetes: a systematic review.

Frontiers in pharmacology
2026

Real-world treatment trajectories preceding GLP-1 receptor agonist initiation in type 2 diabetes: A descriptive UK population-based cohort study on adherence to national clinical guidelines.

Diabetes, obesity & metabolism
2026

ADGRL4 induces adipose browning and weight loss via AKT activation.

Molecular and cellular endocrinology
2026

Glucosuria as a Biomarker of Adherence to Sodium-Glucose Co-Transporter Protein Type 2 Inhibitors.

Patient preference and adherence
2026

Heterogeneous Kidney Patterns in Diabetic Patients Following SGLT2 Inhibitor Use.

Journal of Korean medical science
2026

Evaluating Therapeutic Efficacy of SCL7A11 and GLUT1 Inhibition in Triple-Negative Breast Cancer via a GSH/ATP Dual-NIR-Responsive Fluorogenic Sensor.

Analytical chemistry
2026

Cost-effectiveness of sodium-glucose cotransporter 2 inhibitors and glucagon-like peptide-1 receptor agonists for patients with high cardiovascular risk and type 2 diabetes in Canada.

CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne
2026

SGLT2 Inhibitor Use and Cardiorenal Outcomes in Type 2 Diabetes With Liver Cirrhosis.

JAMA network open
2026

The IGF2BP3/SLC2A1 axis mediates hsa_circ_0000376-Induced malignant progression and neutrophil N2 polarization in the lung adenocarcinoma microenvironment.

Journal of molecular histology
2026

Sodium Glucose Co-transporter 2 Inhibitor associated perioperative Diabetic Ketoacidosis.

Irish medical journal
2026

Application of SGLT2 inhibitors in kidney diseases: a bibliometric analysis.

Frontiers in medicine
2026

SGLT-2 Inhibitors Use in Hospitalized Patients in France: A Cross-Sectional Study.

Fundamental & clinical pharmacology
2026

Landscape of diabetic kidney disease drug clinical trials in China (2013-2023): global implications for innovation and policy.

Renal failure
2026

Comparative risk of the neurodegenerative outcomes between sodium-glucose co-transporter 2 (SGLT2) inhibitors and thiazolidinediones in type 2 diabetes: a multicentre cohort study using the Korean healthcare database (2014-2025).

BMJ open
2026

Dapagliflozin alleviates renal fibrosis in type 2 diabetic mice through regulating STAT3.

Biochemical pharmacology
2026

Glycaemic control remains central in type 2 diabetes mellitus management: key learnings from the latest International Diabetes Federation guidelines.

Diabetes research and clinical practice
2026

Medicinal chemistry advances of SGLT inhibitors: SAR, structural innovation, and mechanistic insights.

European journal of medicinal chemistry
2026

Glucose transporter 3 gene deficiency modifies Huntington's disease progression in zQ175 model mice.

Experimental neurology
2026

Red blood cells serve as a primary glucose sink to improve glucose tolerance at altitude.

Cell metabolism
2026

Empagliflozin Attenuates Global Cerebral Ischemic Injury After Cardiac Arrest Through Enhancing Ketone Body Oxidative Metabolism in Rats.

Journal of the American Heart Association
2026

Guideline-Directed Medical Therapy for Diabetic Kidney Disease: Advances in Primary and Secondary Prevention.

Cureus
2026

Concurrent management of gout and type 2 diabetes mellitus: combined therapy insights.

Diabetes research and clinical practice
2026

Early initiation of sodium-glucose co-transporter-2 inhibitors in heart failure patients: a nationwide study.

ESC heart failure
2026

Finerenone with Empagliflozin in CKD with diabetes (CONFIDENCE): Only a blood pressure effect? Likely!

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
2026

Bridging the gap in heart failure management: the effect of a cross-disciplinary intervention on guidelines-directed medical therapy in primary care.

ESC heart failure
2026

Established and emerging pharmacologic options and unmet needs in HFpEF and HFmrEF.

ESC heart failure
2026

SGLT2 Inhibitor-Associated Changes in Urinary Volatile Organic Compounds in Diabetic Kidney Disease: A Comprehensive Study.

Nephrology (Carlton, Vic.)
2026

Targeting the SIN1 mediated TTK/LDHA-H3K18la-GLUT3 axis disrupts metabolic-epigenetic crosstalk and suppresses progression in hyperglycolytic breast cancer.

Cancer letters
2026

Knowledge and attitudes toward ketogenic dietary therapy in adults with epilepsy.

Epilepsy & behavior : E&B
2026

Glycemic Impact of Non-Nutritive Sweeteners in Health and Type 2 Diabetes.

Nutrition reviews
2026

Effect of SGLT2 Inhibitors on Atrial Fibrillation in Patients With Type 2 Diabetes With Dilated Cardiomyopathy: A Cohort Study.

Cardiovascular therapeutics
2026

Comparative efficacy of GLP-1 RA, tirzepatide and SGLT-2 inhibitors in metabolic liver disease: A network meta-analysis.

British journal of clinical pharmacology
2026

[PET in Neurology: Imaging Pathology, Metabolism, and Disease Progression].

Brain and nerve = Shinkei kenkyu no shinpo
2026

Type 1 Diabetes: A Review.

JAMA
2026

Advances in the Pharmacological Treatment of Heart Failure With Preserved Ejection Fraction.

International journal of heart failure
2026

Non-invasive identification of brain signatures of acute liver injury.

Theranostics
2026

Clinical worsening in adult congenital heart disease and heart failure: A single-centre, observational study.

International journal of cardiology. Congenital heart disease
2026

Anti-obesity effects of Withania somnifera and Chrysanthemum zawadskii Herbich var. latilobum (Maxim.) Kitamura by regulating lipid metabolism and insulin signaling in 3T3-L1 adipocytes.

Nutrition research and practice
2026

Clinical Utility of Genetic Diagnosis in Drug-Resistant Epilepsy: Refining Classification and Guiding Therapy in an Egyptian Cohort.

Clinical genetics
2026

[The effect of empagliflozin on the quality of life in patients with heart failure: results from the Hungarian cohort of the international Emp-Activity study].

Orvosi hetilap
2026

More than Glucose Elimination: Additional Benefits of SGLT2 Inhibitors in Glomerular Diseases.

Drugs
2026

A peptide drug targeting SASH1-PKM2 interaction promotes recovery of traumatic brain injury in mice.

Brain research
2026

Topical ionic liquid-mediated GLUT1 gene editing ameliorates psoriasis and prevents recurrence.

Biomaterials
2026

USP30-mediated Deubiquitination of Hexokinase 2 controls the metabolic fate of glucose and tumor progression.

Cell death & disease
2026

Glucagon-like peptide-1 receptor agonists and the risk of nonarteritic anterior ischemic optic neuropathy: Evidence from a global real-world cohort.

Diabetes & metabolism
2026

Saquinavir induces pyroptosis through the OTUD5-JAK1-GSDME axis in hepatocellular carcinoma.

Free radical biology & medicine
2026

Tumor visualization and evaluation of glioblastoma in mice using small animal 9.4T MRI and PET‑CT with high resolution.

Oncology reports
2026

High Glucose-Induced Alterations in Regucalcin Expression in Podocytes and Their Potential Consequences.

International journal of molecular sciences
2026

Neurochemical and Energetic Alterations in Depression: A Narrative Review of Potential PET Biomarkers.

International journal of molecular sciences
2026

Insulin Resistance and Inflammation.

International journal of molecular sciences
2026

Insulin Signaling in Alzheimer's Disease: Association with Brain Insulin Resistance.

International journal of molecular sciences
2026

Cinnamon-Derived Phytonutrients as Modulators of Ion Channels and G Protein-Coupled Receptor Signaling in Metabolic Diseases.

Nutrients
2026

Nuciferine Ameliorates Lipotoxicity-Mediated Myocardial Ischemia-Reperfusion Injury by Reducing Reverse Electron Transfer Mediated Oxidative Stress.

Nutrients
2026

Lower Selenoprotein P Is Independently Associated with Peripheral Arterial Disease in Peritoneal Dialysis.

Diagnostics (Basel, Switzerland)
2026

Effect of common diabetes medications on metabolic dysfunction-associated steatotic liver disease as measured by transient elastography and other metabolic parameters: A systematic review.

Clinics and research in hepatology and gastroenterology
2026

In silico assessment of benzyl C-analogues of dapagliflozin as potential SGLT2 inhibitors for type 2 diabetes.

Journal of molecular graphics & modelling
2026

High vulnerability of medial prefrontal pyramidal neurons in post-stroke, vascular, Alzheimer's disease, and aging-related dementias.

Alzheimer's & dementia : the journal of the Alzheimer's Association
2025

Efficacy and safety of sodium-glucose cotransporter 2 inhibitors in the treatment of diabetic kidney disease: a meta-analysis.

Frontiers in endocrinology
2026

Prevalence 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 Association
2026

Empagliflozin Attenuates Cardiac Fibrosis by Suppressing Fibroblast-Mediated C-C Motif Chemokine Ligand 2 Expression.

Journal of the American Heart Association
2026

Ethanol Alters DNMT1/3a/3b Expression Profile, Promotes Persistent DNA Hypomethylation in Human Brain Endothelial Cells and Impairs Late Cortical Angiogenesis.

Journal of neurochemistry
2026

Characteristics of Veterans with CKD Using a Telenephrology Program in the Veterans Health Administration.

Clinical journal of the American Society of Nephrology : CJASN
2026

Statins halt polycystic liver disease by reprogramming metabolism and normalizing mitochondrial bioenergetics in cystic cholangiocytes.

Hepatology (Baltimore, Md.)
2026

SGLT2 inhibitors preserve serum chloride in non-diabetic CKD: a propensity-matched and LASSO regression analysis.

Renal failure
2026

Signal-Level Determinants of Cognitive Decline With PPIs versus H2RAs: Transportome (CBLIF/TCN2) and CHRNA7 Nodes.

Molecular nutrition & food research
2026

Enhancing 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 & care
2025

Dorzagliatin shows potential in preventing cognitive impairment in diabetes: evidence from Mendelian randomization analysis and animal study.

Frontiers in endocrinology
2026

Bee pollen-derived peptide with dual DPP-IV Inhibition and glucose transport modulation.

Scientific reports
2026

Atypical protein kinase C activation drives intestinal glucose excretion in diabetes mellitus.

Nature communications
2026

USP20-RAB8A signaling axis restricts pancreatic cancer progression by disrupting GLUT1 vesicular trafficking and inhibiting glucose uptake.

Cancer letters
2026

Translational roadmap of BBB-targeted nanoparticle strategies for neuroregenerative therapy in neurodegenerative diseases.

Biomaterials science
2026

Reprogramming 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 biology
2026

Estimation of metabolic water production in human and rat brain and spinal cord.

Fluids and barriers of the CNS
2026

Chronic 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 Foundation
2026

Dapagliflozin 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 disease
2026

Influence 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 medicine
2026

Exploring 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 metabolisme
2026

Single-Cell Multimodal Profiling Highlights Persistent Aortic Smooth Muscle Cell Changes in Diabetic Mice Despite Glycemic Control.

Arteriosclerosis, thrombosis, and vascular biology
2026

Perioperative 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 medicine
2025

Mild 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 sciences
2026

The role of glucagon-like peptide-1 receptor agonists and sodium-glucose cotransporter-2 inhibitors in chronic obstructive pulmonary disease.

Expert review of clinical immunology
2026

In 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 Society
2026

Novel diethylthiosulfinate suppresses postharvest peach brown rot in vitro and vivo by disrupting carbon metabolism and virulence pathways in Monilinia fructicola.

International journal of food microbiology
2026

Implementation of a peer mentorship program for type 1 diabetes in Canada: A qualitative analysis of peer mentor perspectives.

Patient education and counseling
2026

Cardiorenal and Metabolic Dimensions of Cardiomyopathies and Heart Failure: Focus on SGLT2i, GLP1-RA, and ns-MRA.

Current cardiology reports
2026

Therapeutic effects of vitamin D and intermittent fasting on metabolic associated steatotic liver disease in rats.

Scientific reports
2026

Chronic NH4Cl loading improves glucose tolerance without modifying insulin sensitivity in mice.

Scientific reports
2026

Acute effects of selective serotonin reuptake inhibitors on cerebral glucose metabolism and blood flow.

Translational psychiatry
2026

Folate receptor 1 activation suppresses high glucose-induced amyloidogenesis in neurons via STAT3/Nrf2 pathway-dependent mitigation of mitochondrial oxidative stress.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
2026

Targeting mitochondrial quality control in diabetic kidney disease: emerging therapeutic opportunities.

Renal failure
2026

Diabetic Kidney Disease: From Pathophysiology to Treatment Perspectives.

Kidney & blood pressure research
2026

Bioinformatics 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.

Medicine
2026

Providing 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 science
2026

Cholecystectomy inhibits fasting hepatic fatty acid oxidation in mice.

Communications biology
2025

The 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 nefrologia
2026

Use 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 open
2026

Empagliflozin in combination with trandolapril but not with triple therapy improves glucose and lipid metabolism in non-diabetic hypertensive model.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
2026

Kisspeptin improves local ovarian insulin resistance in PCOS by modulating the PI3K/AKT/GLUT4 signaling pathway.

PloS one

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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. Novel drugs targeting genetic variants: current applications and future prospects in heart failure treatment.
    Frontiers in molecular biosciences· 2026· PMID 41868102mais citado
  2. p38MAPK protects against myocardial ischemia-reperfusion injury by regulating GLUT4 expression and translocation through MEF2A/MEF2C in isolated rat heart.
    Life sciences· 2026· PMID 41865872mais citado
  3. Sweat components as a promising monitoring tool for systemic diseases.
    The journal of physiological sciences : JPS· 2026· PMID 41856079mais citado
  4. MASLD as a systemic metabolic disease: expanding the scope of cardiovascular-kidney-metabolic (CKM) syndrome.
    Science China. Life sciences· 2026· PMID 41854965mais citado
  5. Condition of calves on arrival at dairy-beef calf-raising farms in the Midwestern US.
    Journal of dairy science· 2026· PMID 41850374mais citado
  6. Role of brain glycogen and glucose regulation in migraine susceptibility.
    Neural Regen Res· 2026· PMID 41975622recente
  7. Association of SGLT2 Inhibitor With Stroke in Type 2 Diabetes With Diabetic Retinopathy: A Multicenter Electronic Health Record Data Study.
    Diabetes Obes Metab· 2026· PMID 41969190recente
  8. A two-step mechanism for sugar translocation.
    Nat Struct Mol Biol· 2026· PMID 41951885recente
  9. Gut microbiota and renal fibrosis: novel mechanistic insights and therapeutic potential.
    Acta Pharmacol Sin· 2026· PMID 41951771recente
  10. Astrocytic glucose metabolism regulates the survival of newborn hippocampal neurons in the adult brain.
    Neuron· 2026· PMID 41946358recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:79178(Orphanet)
  2. MONDO:0019226(MONDO)
  3. GARD:18957(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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

Doença do transporte da glicose
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Doença do transporte da glicose

ORPHA:79178 · MONDO:0019226
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C5389835
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