Vitamina D faz parte de um grupo de secosteroides solúveis em gordura responsáveis por aumentar a absorção intestinal de cálcio, magnésio e fosfato e por muitos outros efeitos biológicos. Em humanos, os compostos mais importantes neste grupo são a vitamina D3 (também conhecida como colecalciferol) e a vitamina D2 (ergocalciferol).
Introdução
O que você precisa saber de cara
Doenças do metabolismo da vitamina D causam problemas ósseos e dentários, como escoliose e perda precoce de dentes. Podem levar a luxações articulares, hiperparatireoidismo e nefrolitíase, afetando a estrutura óssea e a mobilidade.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 39 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 95 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.
A cytochrome P450 monooxygenase involved in activation of vitamin D precursors. Catalyzes hydroxylation at C-25 of both forms of vitamin D, vitamin D(2) and D(3) (calciol) (PubMed:12867411, PubMed:15465040, PubMed:18511070). Can metabolize vitamin D analogs/prodrugs 1alpha-hydroxyvitamin D(2) (doxercalciferol) and 1alpha-hydroxyvitamin D(3) (alfacalcidol) forming 25-hydroxy derivatives (PubMed:15465040, PubMed:18511070). Mechanistically, uses molecular oxygen inserting one oxygen atom into a sub
Endoplasmic reticulum membraneMicrosome membrane
Rickets vitamin D-dependent 1B
An autosomal recessive disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. The patients sera have low calcium concentrations, low phosphate concentrations, elevated alkaline phosphatase activity and low levels of 25-hydroxyvitamin D.
A cytochrome P450 monooxygenase involved in vitamin D metabolism and in calcium and phosphorus homeostasis. Catalyzes the rate-limiting step in the activation of vitamin D in the kidney, namely the hydroxylation of 25-hydroxyvitamin D3/calcidiol at the C1alpha-position to form the hormonally active form of vitamin D3, 1alpha,25-dihydroxyvitamin D3/calcitriol that acts via the vitamin D receptor (VDR) (PubMed:10518789, PubMed:10566658, PubMed:12050193, PubMed:22862690, PubMed:9486994). Has 1alpha
Mitochondrion membrane
Rickets vitamin D-dependent 1A
A disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets.
Nuclear receptor for calcitriol, the active form of vitamin D3 which mediates the action of this vitamin on cells (PubMed:10678179, PubMed:15728261, PubMed:16913708, PubMed:28698609, PubMed:37478846). Enters the nucleus upon vitamin D3 binding where it forms heterodimers with the retinoid X receptor/RXR (PubMed:28698609). The VDR-RXR heterodimers bind to specific response elements on DNA and activate the transcription of vitamin D3-responsive target genes (PubMed:28698609). Plays a central role
NucleusCytoplasm
Rickets vitamin D-dependent 2A
A disorder of vitamin D metabolism resulting in severe rickets, hypocalcemia and secondary hyperparathyroidism. Most patients have total alopecia in addition to rickets.
Medicamentos aprovados (FDA)
2 medicamentos encontrados nos registros da FDA americana.
Variantes genéticas (ClinVar)
264 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
6 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 — Doenças do metabolismo da vitamina D
Centros de Referência SUS
21 centros habilitados pelo SUS para Doenças do metabolismo da vitamina D
Centros para Doenças do metabolismo da vitamina D
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
NUPAD / Faculdade de Medicina UFMG
Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital de Clínicas da Universidade Federal de Pernambuco
Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital Universitário Onofre Lopes (HUOL)
Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570
Atenção Especializada
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Instituto da Criança e do Adolescente (ICr-HCFMUSP)
Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Amyloid-β as a target to suppress tonic PTH hypersecretion in hyperparathyroidism due to vitamin D deficiency.
Hyperparathyroidism is an endocrine disorder linked to vitamin D deficiency. Reduced vitamin D receptor (VDR) activity promotes parathyroid hormone (PTH) hypersecretion by increasing heterodimerization of the type B γ-aminobutyric acid receptor 1 (GABAB1R) with the extracellular Ca2+-sensing receptor (CaSR) in parathyroid cells; however, endogenous activators of the heterodimers are unknown. We uncovered increased expression of amyloid-β peptide cleaved from the amyloid-β precursor protein (APP) in parathyroid cells of patients with hyperparathyroidism and aging mice manifesting vitamin D deficiency and the ability of exogenous amyloid-β to promote tonic PTH secretion from cultured murine or human parathyroid glands. Conversely, parathyroid cell-specific App gene deletion reduced tonic PTH secretion and lowered serum PTH concentrations in mice. The absence of the amyloid-β effect on PTH secretion in parathyroid cells lacking CaSR or GABAB1R supported direct interactions of amyloid-β with the receptor heterodimers. In situ proteomic profiling of parathyroid cells of patients with hyperparathyroidism correlated lower serum 25-hydroxyvitamin D concentrations with increased GABAB1R/CaSR heterodimer expression, β-amyloidogenesis, and phosphorylation of Tau, a downstream effector of amyloid-β. Concurrent ablation of App or the Tau-encoding Mapt gene prevented tonic PTH hypersecretion in parathyroid cell-specific Vdr knockout mice. Likewise, weekly administration of an amyloid-β-neutralizing antibody suppressed tonic PTH hypersecretion and synergized with daily administration of cinacalcet, which activates CaSR homodimers, to reduce serum PTH concentrations in aged mice. These data demonstrated amyloid-β actions in driving tonic PTH secretion by activating GABAB1R/CaSR heterodimers and the potential of targeting amyloid-β to treat hyperparathyroidism due to vitamin D deficiency.
Prospective Monitoring of Serum Values of CBC, Total IgE, Thyroid Findings, D-Dimer, Vitamin D, and Inflammatory Molecules CRP, ESR, and IL-6 and Clinical Features of Chronic Spontaneous Urticaria Patients During Antihistamine Treatment.
Having appropriate and meaningful diagnostic procedures is crucial in the approach to patients with chronic spontaneous urticaria (CSU), so we wanted to investigate relationships between CSU patients' common serum factors and clinical CSU features, and their temporal trends during antihistamine treatment. In this exploratory hypothesis-based study, we assessed disease severity and quality of life (QoL) in, initially, 41 CSU patients using UAS7, daily UAS, UCT, DLQI, and CU-Q2oL. Concurrently, we measured serum complete blood count (CBC), total IgE, thyroid antibodies and hormones, ANA, D-dimer, vitamin D, and the inflammatory molecules CRP, ESR and IL-6. We compared initial (T1) and follow-up findings (T2) (after 3 months of antihistamine therapy). Basophil concentration was the only examined serum factor useful in assessing current CSU severity/daily UAS (sensitivity 78.6%; specificity 63%; p = 0.028). Basopenia was more frequent in patients with moderate/severe CSU than in those with mild disease or remission, as measured by daily UAS (79% vs. 37%; p = 0.020). T4 values showed a significant dependence on CSU duration (r = -0.328; p = 0.036). ESR was the only examined serum factor significantly associated with weekly CSU severity (UAS7) (p = 0.038). Antihistamine treatment significantly reduced CSU activity (recorded by daily UAS and UAS7) and improved QoL (DLQI) (p = 0.006) and disease control/UCT (p = 0.005). After three months of treatment, only the CRP value correlated with CSU control/UCT (p = 0.014). We encourage the use of diagnostics employing basophil counts and clinical indices UAS7, daily UAS, UCT and DLQI for insight into a patient's CSU clinical condition. Serum factor values did not change during the 3-month treatment period, so it is not useful to measure them repeatedly. Although this study involved a small cohort and has many limitations, these promising results highlight the need for replication with a greater number of CSU patients.
Vitamin D Receptor Signaling and Ligand Modulation: Molecular Mechanisms and Therapeutic Implications.
Vitamin D, a fat-soluble vitamin functioning as a hormone via the vitamin D receptor (VDR), is critical for calcium homeostasis and bone health. Vitamin D deficiency is linked to nutritional rickets, osteomalacia, and increased risk of non-communicable diseases such as cancer and diabetes. While serum 25(OH)D3 is used to assess vitamin D status, its active form, 1α,25(OH)2D3, exerts context-dependent effects on calcium metabolism. Nonetheless, the therapeutic utility of native vitamin D is limited in certain pathologies. In chronic kidney disease (CKD), the renal conversion of 25(OH)D3 to active 1α,25(OH)2D3 is compromised, necessitating the use of active synthetic analogs to bypass this metabolic defect. Furthermore, for dermatological and oncological disorders requiring supraphysiological dosing, synthetic analogs have been designed to dissociate beneficial anti-proliferative effects from the severe hypercalcemia induced by high-dose 1α,25(OH)2D3. VDR mediates transcriptional responses, modulated by co-regulators and chromatin remodeling complexes. Recent discoveries include non-genomic VDR pathways and SCAP (SREBP cleavage-activating protein)-dependent signaling that modulate lipid metabolism. Despite promising preclinical results, most synthetic VDR agonists fail to show efficacy in cancer therapy due to calcemic toxicity. However, compounds like eldecalcitol are effective in osteoporosis, especially in low-calcium-intake populations. Selective VDR modulators, akin to SERMs, exhibit tissue-specific effects. Moreover, novel VDR antagonists such as ZK168281 demonstrate potential to suppress hypercalcemia and vitamin D toxicity by inhibiting transcriptional activity and altering VDR localization. These agents may enable anti-inflammatory or anti-proliferative actions without calcemic risks. Understanding the nuanced biology of vitamin D and its analogs offers new avenues for therapeutic intervention beyond bone metabolism, including managing hyperparathyroidism, granulomatous diseases, and inflammation-associated disorders.
Biologically Younger Individuals, as Identified by MARK-AGE Biological Age Scores, Display a Distinct Favourable Blood Chemistry Profile Regardless of Age.
Biomarkers of ageing are defined as age-related changes in body function or composition that could serve as a measure of 'biological' age and predict the onset of age-related diseases and/or residual life expectancy. We conducted the MARK-AGE Study, a European population study (3300 subjects aged 35-74) to identify a powerful set of biomarkers of ageing. A total of 362 clinical-chemistry, genetic, cellular or molecular biomarkers were analysed for each subject. Using statistical models as well as machine learning we derived mathematical formulas for females and for males that yield a 'bioage score' of an individual, based on sets of 10 biomarkers for females and 10 for males. Collectively, these biomarkers model chronological age of our study population and, thus yield the 'biological' age of a certain person. 'Age difference' (defined as biological minus chronological age) should then identify biologically older or younger individuals. Using our set of biomarkers, subjects with Down Syndrome and smoking females are biologically older, whereas postmenopausal females taking hormone replacement therapy are biologically younger. Strikingly, our data reveal that age difference of MARK-AGE subjects, but not chronological age, is linearly correlated with levels of HDL, 25-hydroxy-Vitamin D, and CD3+ CD4+/CD45+ ratio in such a way that biologically younger subjects display values that are favourable to good health, whereas other markers such as glucose and HbA1c are correlated with chronological age, but not age difference. This dichotomy of correlations may point to different roles of such markers, that is, drivers of the ageing process versus bystanders of ageing.
Integrated determinants of multiple sclerosis susceptibility: Genetics, environment, infection and the microbiota.
Multiple sclerosis (MS) arises from the convergence of polygenic immune susceptibility, environmental exposures, and infectious determinants, none of which alone is sufficient for disease expression. More than 200 genetic variants contribute to MS risk, with the HLA-DRB115:01 haplotype providing the strongest effect within a broader network of immune-regulatory loci. Functional genomic evidence shows that these variants primarily influence antigen presentation and lymphocyte activation, creating an immune landscape that can be further shaped by external factors. This review integrates epidemiological, genomic, and mechanistic data to outline the main determinants of MS susceptibility. Epstein-Barr virus infection emerges as the dominant infectious driver, with seroconversion preceding early neuroaxonal injury and clinical onset. In contrast, cytomegalovirus infection appears protective, likely through immune imprinting that counterbalances EBV-driven B-cell and T-cell activation. Environmental factors including cigarette smoking, adolescent obesity, vitamin D deficiency, circadian disruption, and gut microbiota dysbiosis further modify susceptibility by promoting proinflammatory immune programs and reducing regulatory stability. Many of these exposures interact synergistically with HLA-DRB115:01, amplifying risk beyond additive expectations. These determinants influence shared immunological pathways regulating antigen presentation, lymphocyte differentiation, and immune tolerance. Clarifying these biological interfaces highlights actionable domains including smoking avoidance, metabolic health optimization, vitamin D sufficiency, viral prevention strategies, circadian alignment, and microbiome-targeted interventions that may inform risk-reduction and early identification efforts.
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Primary hyperparathyroidism presenting with pathological fractures mimicking malignancy: a case from Tanzania.
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Current opinion in neurologyOsteomalacia Following Iron Infusion Therapy in a Patient With Rendu-Osler-Weber Syndrome: F-18-FDG PET/CT Discrimination of a Stress Fracture in the Setting of a Musculoskeletal Tumor Mimic.
Clinical case reportsPleiotropic immunoregulation by bile acids in pathophysiology.
Frontiers in immunologyLacylation of Stearoyl-CoA Desaturase-1 Contributes to the Myocardial Ischemia-Reperfusion Injury Through Regulating Wnt/β-Catenin Signaling.
Journal of cardiovascular translational researchA newly developed circadian imbalance index (CII) and risk of cardiovascular-kidney-metabolic disease in the UK biobank.
European journal of epidemiologyVitamin D Reprograms Non-Coding RNA Networks to Block Zika Virus in Human Macrophages.
Pathophysiology : the official journal of the International Society for PathophysiologyVDR mRNA Expression And Serum Vitamin D Levels in Post-Covid Vaccinated Patients.
F1000ResearchInterpretable Prediction of Late-Stage CKM Syndrome Association From Dietary Nutrients in Accelerated Aging Using SHAP and LIME.
Food science & nutritionThe Impact of the COVID-19 Pandemic on Osteoporosis Diagnosis and Treatment in Iran: A National Study.
International journal of endocrinology and metabolismBone health after 3 years of ETI therapy: a real-world study from the Danish cystic fibrosis cohort.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis SocietyPrecision staging of Type 2 diabetes through Hypergraph-Based multimorbidity Profiling: From hepatic disruption to cardiovascular escalation.
Diabetes research and clinical practiceDeterminants of extracellular fluid calcium concentration in patients with chronic hypoparathyroidism.
European journal of endocrinologyBone health up to five years after Roux-en-Y gastric bypass: a cross-sectional study during the COVID-19 pandemic.
Acta cirurgica brasileiraCombining metabolic and checkpoint therapy: 1,25-dihydroxyvitamin D₃ enhances the antiviral efficacy of anti-PD-1 in BVDV infection.
Veterinary microbiologyKDM6A alternative splicing induced by 25(OH)D inhibits breast cancer cell stemness through repressing TRAP1 transcription.
OncogeneEstablishing Reference Intervals for Fat-Soluble Vitamins in Healthy Chinese Adults: Study Protocol for a Cross-Sectional, Multicenter Study.
JMIR research protocolsEvocalcet improved the PTH-calcium setpoint and suppressed parathyroid proliferation in mice model of primary hyperparathyroidism.
Journal of bone and mineral metabolismCan maternal abnormalities in glucose and lipid metabolism reduce the risk of obesity in offspring through breastfeeding, vitamin D, and sleep guidance? a cohort study.
BMC pregnancy and childbirthVitamin D3 mediates amelioration of ulcerative colitis via the TRPV1-MAPK signaling pathway.
Frontiers in immunologyElucidating the Role of Vitamin D Receptor (VDR) Polymorphisms in Genetic Susceptibility to Systemic Lupus Erythematosus: A Case-Control Study From Western India.
International journal of immunogeneticsMultiple dyselectrolytemia in a patient with alcohol use disorder (AUD).
CEN case reportsVitamins and oral mucosal diseases: From bench to the bedside.
Clinics in dermatologyEndocrine Care During Transition in Emerging Adults With Cystic Fibrosis: A Single Center Retrospective Study.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsGlucolipid Metabolic Disorders and Helicobacter pylori Infection.
International journal of endocrinologySpecial Issue "The Role of Vitamin D in Human Health and Diseases 4.0".
International journal of molecular sciencesSex Disparities in the Processes Underlying Aging: Mitochondrial DNA Copy Number Associations with Dynapenia, 25-Hydroxyvitamin D3 Levels and Quality of Life in Older Adults.
NutrientsVitamin D in Cardiovascular Medicine: From Molecular Mechanisms to Clinical Translation.
NutrientsFibroblast Growth Factor-23 and Cardiovascular Disease in Patients With Chronic Kidney Disease.
Cardiology in reviewPregnancy and Lactation Associated Osteoporosis of the Hip: A Systematic Review.
Calcified tissue internationalThe associations between epilepsy, metabolism, and their clinical implications.
Frontiers in endocrinologyVitamin D Supplementation for Steatotic Liver Disease: an Updated Systematic Review and Dose-Response Meta-analysis of Randomized and Nonrandomized Interventional Studies.
Current developments in nutritionCase Report: A case of myocardial calcification combined with abnormal Q waves on electrocardiogram.
Frontiers in cardiovascular medicineAssociation between serum vitamin D levels and polycystic ovary syndrome: a cross-sectional study.
Frontiers in nutritionVitamin D as a central modulator of thyroid diseases: mechanisms and clinical implications.
Frontiers in immunologyGenetic insights into hepatocellular carcinoma: the role of VDR FokI (rs2228570) and TaqI (rs731236) polymorphisms in Egyptian patients.
BMC medical genomicsTenofovir-Associated Hypophosphatemic Osteomalacia in an HIV-Infected Patient: A Case Report.
CureusProteomic trajectories in human rotator cuff degeneration: a systematic review of immunohistochemical studies.
Journal of orthopaedic surgery and researchAssociation of 25-hydroxyvitamin D levels and vitamin D receptor gene polymorphisms with breast cancer risk in Bangladeshi women.
Scientific reportsHormonal Transition and Osseointegration: Evaluating the Nexus between Vitamin D Status and Peri-Implant Health and Disease in Women.
Journal of long-term effects of medical implantsAssociation of VDR gene polymorphisms with prediabetes and Type 2 diabetes mellitus in a sample of the Iranian population.
PloS oneMagnesium - The Silent Partner or the Next Vitamin D? Shifting Paradigm in Mineral Metabolism in Health and Disease.
EJIFCCPostpartum Sacral Stress Fracture in a Primiparous Woman: A Case Report.
CureusPrevalence of Hypercalcemia in Patients With Pulmonary Tuberculosis and Impact of Treatment.
CureusImpact of exercise and vitamin D on cardiac tissue morphology and pathological changes in rats: role of endostatin regulation in VEGF and lipid profile improvement.
European journal of applied physiologyExploring the interplay of vitamin D, salivary antimicrobial peptides, and cytokines in oral immunity and disease prevention: an insight for implications in oral health policy.
Frontiers in oral healthSarcoidosis and Risk of Nephrolithiasis in US Black Women: Data from the Black Women's Health Study.
CHEST pulmonaryMaternal nutritional imbalance during pregnancy and the development of fetal-origin cardiovascular diseases.
Frontiers in nutritionMultiple analysis of the nutritional status of children and adolescents in Western China.
The British journal of nutritionEffects of dietary myo-inositol supplementation on the expression of fibroblast growth factor 23 (FGF23) and αKlotho in two commercial laying hen strains.
Poultry scienceAllyl isothiocyanate ameliorates metabolic dysfunction-associated steatotic liver disease via vitamin D receptors in hepatocytes.
World journal of gastroenterology[Optimal serum 25(OH)D levels in relation to musculoskeletal, metabolic, neurological, autoimmune and infectious diseases].
Problemy endokrinologiiDoes everyone need to take vitamin D? High prevalence of CYP24A1 deficiency in the Russian population.
Problemy endokrinologiiThe weight-adjusted waist index predicts sarcopenia in community-dwelling older adults in a nationwide multicenter prospective study.
Scientific reportsSerum 25-hydroxyvitamin D concentrations, sleep characteristics and the risk of incident dementia.
MaturitasUnraveling the mechanistic links between blood pressure regulation and calcium-magnesium homeostasis: Insights into hypertension, hyperparathyroidism, and mineral disorders.
PloS onePalopegteriparatide for Adults with Chronic Hypoparathyroidism: Skeletal Dynamics Through 3 yr of the Phase 2 paTH Forward Trial.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchPrognostic value of serum vitamin D level for renal scarring in childhood acute pyelonephritis.
The Turkish journal of pediatricsTherapeutic effects of vitamin D and intermittent fasting on metabolic associated steatotic liver disease in rats.
Scientific reportsFTO-dependent m6A Demethylation Activates Mxd1 To Enhance Vitamin D-induced Suppression of Neuroinflammation Via PTEN/AKT/PGC-1α Signaling Pathways in Microglia.
InflammationEffect of different dietary supplements on the growth and blood parameters of bearded dragons (Pogona vitticeps).
Acta veterinaria HungaricaFahr's Syndrome Secondary to Hypoparathyroidism Presenting With Neurological and Cardiac Manifestations.
CureusEffects of graded phosphate deficiency and vitamin D intervention on growth, bone metabolism, and mineralization in a rat model of neonatal-onset metabolic bone disease.
JBMR plusMetabolic Bone Disease in Athletes.
Seminars in musculoskeletal radiologyReal-world outcomes of denosumab treatment in patients undergoing hemodialysis for osteoporosis: A 3-year observational study.
Clinical nephrologyBasal Ganglia Calcification Secondary to Postsurgical Hypoparathyroidism Presenting With Seizures and Acute Confusion: A Case Report (Fahr Syndrome).
CureusNeonatal vitamin D status and asthma risk after age 5 years: A Danish population-based cohort study.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyAssociation of 25-hydroxyvitamin D with all-cause and cardiovascular disease mortality among individuals incardiovascular-kidney-metabolic syndrome stages 0-3: a cohort study from the NHANES 2001-2018.
Diabetology & metabolic syndromeThe impact of maternal vitamin D deficiency during pregnancy and lactation on autism-like behavior in offspring.
Molecular and cellular endocrinologyThe calcimimetic etelcalcetide attenuates pressure overload-induced cardiac hypertrophy in rats with and without chronic kidney disease.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieOsteoarthritic knee: Advances in Epidemiology, Emerging Etiopathologies and Adipose-Derived Stem Cells-based Therapies.
Aging and diseaseEvaluation of muscle strength assessment in adolescent polycystic ovary syndrome: a case control study.
BMC women's healthFanconi anaemia as a human model of accelerated epigenetic and immune ageing.
Ageing research reviewsPreliminary Study on Circulating REG3α and Its Associations with Vitamin D Supplementation and Inflammatory Biomarkers in Adults with Overweight and Obesity.
Current issues in molecular biologyAdolescent Vitamin D Supplementation Reverses Neuroplasticity and Motivational Deficits Induced by Developmental Alcohol Exposure and Early-Life Stress.
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceVitamin D supplementation and selected metabolic parameters in patients with type 2 diabetes and obesity: a prospective observational study.
Frontiers in endocrinologyThe interplay between childhood obesity and vitamin D deficiency: mechanisms and implications.
Frontiers in pediatricsDisrupted Vitamin D Signaling and Metabolism in Neurodevelopmental and Neurodegenerative Disorders.
ASN neuroResearch progress on risk factors of recurrence of benign paroxysmal positional vertigo.
Frontiers in neurologySevere Hypercalcemia Revealing Acute Lymphoblastic Leukemia: A Case Report.
CureusPredictors of Shoulder Pathology in Rheumatoid Arthritis: A Cross-Sectional Study.
CureusRefractory Prinzmetal Angina With Severe Right Coronary Artery Vasospasm and Bradycardia in a 46-Year-Old Female: A Complex Case Associated With Hypophosphatemia.
CureusBile acids as therapeutic agents.
Frontiers in pharmacologyVitamin D Status in Rheumatology Patients with Inflammatory Compared with Non-Inflammatory Diagnoses: Inflammatory and Autoimmune Markers Are Not Associated with Vitamin D Levels.
NutrientsVitamin D Deficiency and Replacement Challenges in Type 1 Gastric Neuroendocrine Tumors: A Comparative Study.
NutrientsThe Role of Vitamin D in Autoimmune Thyroid Diseases: From Immunomodulation to Clinical Implications.
NutrientsThe Impact of Nutritional Status on Survival and Development of Sarcoidosis: A Scoping Review of Current Evidence and Research Gaps.
NutrientsDisrupted Vitamin D Metabolism in Hepatocellular Carcinoma: Free and Bioavailable 25(OH)D as Novel Biomarkers of Hepatic Reserve and Clinical Risk.
Molecules (Basel, Switzerland)Active Vitamin D Level Is Independently Associated with the Presence and Severity of Coronary Artery Disease in Patients with Chronic Kidney Disease.
Medicina (Kaunas, Lithuania)Endocrine Disorders of Calcium Signaling in Children: Neuroendocrine Crosstalk and Clinical Implications.
CellsCinacalcet Efficacy in Hyperparathyroidism-Chronic Kidney Disease-Non-Dialysis, Hemodialysis, Peritoneal Dialysis, Kidney Transplantation: Critical Review.
BiomedicinesAnimal Tissue Mineralization: An Overview of Disease Processes, Comparative Pathology, and Diagnostic Approaches.
BiomoleculesSex and Gender Aspects in Vestibular Disorders: Current Knowledge and Emerging Perspectives-A Systematic Review.
Diagnostics (Basel, Switzerland)Rat models for arterial calcification associated with chronic kidney disease: a systematic review and meta-analysis.
BMC cardiovascular disordersFibroblast growth factor 23-induced hypophosphatemia in a malignant phosphaturic mesenchymal tumor: presentation of a rare case.
Clinical biochemistryFemoral Neck Bone Marrow Edema During Isotretinoin Therapy: A Case Report.
American journal of physical medicine & rehabilitationEmerging Therapeutic Approaches for Tic Alleviation in Tourette Syndrome: The Role of Micronutrients.
Neurology internationalMetabolic Bone Disease in Captive Flying Foxes: A Conceptual Framework and Future Perspectives.
MetabolitesA Rare Presentation of Chronic Nonsteroidal Anti-inflammatory Drug-induced Acute-on-chronic Kidney Disease with Secondary Hyperaldosteronism and Hyperparathyroidism in a Young Male with Refractory Hypertension.
Annals of African medicineLow serum 25-hydroxyvitamin D is associated with fatigue in older women with metastatic breast cancer.
Clinical nutrition ESPENBidirectional Mendelian randomization analysis investigating causal associations between 35 blood and urine biomarkers and oral lichen planus.
MedicineLong-term follow-up of a randomized controlled trial on individualized fortification of human milk.
Frontiers in nutritionIncreased cathelicidin LL-37 colonic expression is associated with tumor progression in colorectal cancer.
Journal of physiology and pharmacology : an official journal of the Polish Physiological Society[Association between plasma 25-hydroxyvitamin D level and depressive symptom in older adults aged 65 years and above in 18 longevity areas in China].
Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhiAssociation between serum 25-hydroxyvitamin D levels and cardiometabolic index among overweight/obese U.S. adults: A cross-sectional study.
MedicinePredictors of vitamin D deficiency and quality of life in obese patients with obstructive sleep apnea.
Scientific reportsMetabolic activation of lumisterol to biologically active metabolites and their mechanism of action.
Biochemical pharmacologyComplex Febrile Seizures As the Initial Presentation of Nutritional Rickets Due to Severe Vitamin D Deficiency.
CureusMetabolic Workup for Bone Stress Injury: A Practical Approach for Evaluating Bone Health in Athletes.
Sports healthRelationship between impaired glucose metabolism and bone mineral density in patients with cystic fibrosis.
European journal of pediatricsBlood biomarkers of frailty and cognition: A scoping review.
Neurobiology of agingReview on the hepatic osteodystrophy in poultry: From pathogenesis to management implications.
Poultry scienceAssociações
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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.
- Amyloid-β as a target to suppress tonic PTH hypersecretion in hyperparathyroidism due to vitamin D deficiency.
- Prospective Monitoring of Serum Values of CBC, Total IgE, Thyroid Findings, D-Dimer, Vitamin D, and Inflammatory Molecules CRP, ESR, and IL-6 and Clinical Features of Chronic Spontaneous Urticaria Patients During Antihistamine Treatment.
- Vitamin D Receptor Signaling and Ligand Modulation: Molecular Mechanisms and Therapeutic Implications.
- Biologically Younger Individuals, as Identified by MARK-AGE Biological Age Scores, Display a Distinct Favourable Blood Chemistry Profile Regardless of Age.
- Integrated determinants of multiple sclerosis susceptibility: Genetics, environment, infection and the microbiota.
- Adult-onset pseudohypoparathyroidism type 1B diagnosed by methylation analysis: A case report and diagnostic considerations.
- An Update on Bile Acid-Regulated Signalling in the Pathogenesis of Metabolic Dysfunction-Associated Steatotic Liver Disease.
- Puerarin restores testicular steroidogenesis via VDR-cyclic AMP/PKA signaling in a chronic unpredictable stress (CUS) rat model.
- Vitamin D-Mediated Immunoregulation in Degenerative Diseases: Insights into Cardiovascular, Neurodegenerative and Musculoskeletal Disorders.
- 25-nitro-20-epi-vitamin D analogue with anti-proliferative and cytoprotective properties: Biological and pharmacological evaluation.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:289098(Orphanet)
- MONDO:0017322(MONDO)
- GARD:21132(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55786982(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
