Raras
Buscar doenças, sintomas, genes...
Doenças do metabolismo da vitamina D
ORPHA:289098DOENÇA RARA

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).

Mantido por Agente Raras·Colaborar como especialista →

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.

🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PR, SC, RS, ES +8
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Sinais e sintomas

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

Partes do corpo afetadas

🦴
Ossos e articulações
24 sintomas
📏
Crescimento
7 sintomas
🧬
Pele e cabelo
4 sintomas
🫘
Rins
3 sintomas
🫃
Digestivo
3 sintomas
🩸
Sangue
3 sintomas

+ 39 sintomas em outras categorias

Características mais comuns

Dificuldade para ficar em pé
Escoliose
Morfologia anormal do tecido adiposo
Perda prematura de dentes decíduos
Estrutura óssea anormal
Forma anormal dos corpos vertebrais
95sintomas
Sem dados (95)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 95 características clínicas mais associadas, ordenadas por frequência.

Dificuldade para ficar em péDifficulty standing
EscolioseScoliosis
Morfologia anormal do tecido adiposoAbnormal adipose tissue morphology
Perda prematura de dentes decíduosPremature loss of primary teeth
Estrutura óssea anormalAbnormal bone structure

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa2
Últimos 10 anos200publicações
Pico2026173 papers
Linha do tempo
2024Hoje · 2026🧪 1991Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

3 genes identificados com associação a esta condição.

CYP2R1Vitamin D 25-hydroxylaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Endoplasmic reticulum membraneMicrosome membrane

VIAS BIOLÓGICAS (2)
VitaminsVitamin D (calciferol) metabolism
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
22.9 TPM
Skin Sun Exposed Lower leg
14.0 TPM
Skin Not Sun Exposed Suprapubic
13.6 TPM
Baço
11.9 TPM
Próstata
11.8 TPM
OUTRAS DOENÇAS (2)
vitamin D hydroxylation-deficient rickets, type 1Bvitamin D-dependent rickets, type 1
HGNC:20580UniProt:Q6VVX0
CYP27B125-hydroxyvitamin D-1 alpha hydroxylase, mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Mitochondrion membrane

VIAS BIOLÓGICAS (1)
Defective CYP27B1 causes VDDR1A
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Rim - Córtex
11.9 TPM
Tireoide
6.4 TPM
Pâncreas
4.1 TPM
Rim - Medula
3.5 TPM
Glândula adrenal
3.3 TPM
OUTRAS DOENÇAS (2)
vitamin D-dependent rickets, type 1Avitamin D-dependent rickets, type 1
HGNC:2606UniProt:O15528
VDRVitamin D3 receptorDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

NucleusCytoplasm

VIAS BIOLÓGICAS (3)
Vitamin D (calciferol) metabolismSUMOylation of intracellular receptorsNuclear Receptor transcription pathway
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Skin Not Sun Exposed Suprapubic
32.0 TPM
Skin Sun Exposed Lower leg
29.0 TPM
Intestino delgado
25.4 TPM
Cólon transverso
22.9 TPM
Fibroblastos
21.3 TPM
OUTRAS DOENÇAS (2)
vitamin D-dependent rickets, type 2Avitamin D-dependent rickets, type 2
HGNC:12679UniProt:P11473

Medicamentos aprovados (FDA)

2 medicamentos encontrados nos registros da FDA americana.

💊 Earth (AUR MET, ARG NIT, CAUSTICUM, CINCHONA, CONDURANGO, CEANOTHUS, EUPHRASIA, FUCUS, GALLICUM AC, IRIS VERS, NET CARB, NITRICUM AC, PHOSPHORUS.)
💊 Water (ACONITUM NAP, ARSENICUM ALB, BORAX, CALC PHOS, GELSENIUM, LYCOPODIUM, PHOSPHORICUM AC, PICRICUM AC, PLUMB MET, SOLIDAGO)
Ver no DailyMed/FDA

Variantes genéticas (ClinVar)

264 variantes patogênicas registradas no ClinVar.

🧬 CYP2R1: NM_024514.5(CYP2R1):c.15G>A (p.Trp5Ter) ()
🧬 CYP2R1: NM_024514.5(CYP2R1):c.121_122del (p.Pro41fs) ()
🧬 CYP2R1: NM_024514.5(CYP2R1):c.135del (p.Leu46fs) ()
🧬 CYP2R1: NM_024514.5(CYP2R1):c.32C>T (p.Ala11Val) ()
🧬 CYP2R1: NM_024514.5(CYP2R1):c.1000+5G>T ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
2Fase 21
·Pré-clínico4
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
Carregando informações de tratamento...

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

NUPAD / Faculdade de Medicina UFMG

Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226

Serviço de Referência

Rota
Erros Inatos do Metabolismo

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da Universidade Federal de Pernambuco

Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492

Atenção Especializada

Rota
Erros Inatos do Metabolismo

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Onofre Lopes (HUOL)

Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570

Atenção Especializada

Rota
Erros Inatos do Metabolismo

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Erros Inatos do Metabolismo

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

0 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Amyloid-β as a target to suppress tonic PTH hypersecretion in hyperparathyroidism due to vitamin D deficiency.

Science translational medicine2026 Mar 18

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.

#2

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.

International journal of molecular sciences2026 Mar 09

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.

#3

Vitamin D Receptor Signaling and Ligand Modulation: Molecular Mechanisms and Therapeutic Implications.

International journal of molecular sciences2026 Mar 04

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.

#4

Biologically Younger Individuals, as Identified by MARK-AGE Biological Age Scores, Display a Distinct Favourable Blood Chemistry Profile Regardless of Age.

Aging cell2026 Mar

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.

#5

Integrated determinants of multiple sclerosis susceptibility: Genetics, environment, infection and the microbiota.

Journal of the neurological sciences2026 Mar 06

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.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC12 artigos no totalmostrando 199

2026

Primary hyperparathyroidism presenting with pathological fractures mimicking malignancy: a case from Tanzania.

Oxford medical case reports
2026

Neurophysiological correlates of vitamin D, B12, and folate deficiency in children with primary nocturnal enuresis.

Journal of pediatric urology
2026

Effects of Exercise Combined With Vitamin D Interventions on Glucose-Lipid Metabolism and Obesity in Individuals With Type 2 Diabetes Mellitus: A Systematic Review and Meta-Analysis.

Nutrition reviews
2026

Serum vitamin d levels predict hospital-free days in outpatient allogeneic stem cell transplantation survivors: implications for long-term health outcomes.

Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer
2026

Brown Tumor in a Patient With End-Stage Renal Disease: A Case Report of Secondary Hyperparathyroidism Complications.

Cureus
2026

Association of vitamin D and N-acetylcysteine supplementation with anxiety, cognition, and biomarkers in generalized anxiety disorder: a retrospective cohort study.

American journal of translational research
2026

Genetic and epigenetic determinants of vitamin D metabolism: nutrigenomic insights for precision nutrition.

Frontiers in nutrition
2026

Evaluation of nutritional interventions and their impact on metabolic syndrome risk markers in older adults.

Frontiers in nutrition
2026

Autoimmunity, diet and autophagy.

Autoimmunity reviews
2026

More than Cysts: Decoding Polycystic Ovarian Syndrome from Cells to Solutions.

Current drug research reviews
2026

Precision Glyco-Modulated GcMAF2.0 Targets CLEC10A to Bidirectionally Re-Wire Macrophage States: Cross-Species Evidence, Mechanistic Omics and Translational Horizons.

Immunology
2026

Decoding Chronic Charcot Arthropathy: Molecular Mechanisms, Predictive Biomarkers, and Emerging Therapies.

JB & JS open access
2026

Amyloid-β as a target to suppress tonic PTH hypersecretion in hyperparathyroidism due to vitamin D deficiency.

Science translational medicine
2026

Vitamin D and Health Outcomes: State-of-the-Art Review of Triangulated Evidence and Ongoing Controversies.

Current nutrition reports
2026

Mycobacterial metallophosphatase MmpE acts as a nucleomodulin to regulate host gene expression and promote intracellular survival.

eLife
2026

Vitamin D3 as an immunomodulatory agent: molecular mechanisms, clinical translation, and precision therapeutic strategies.

Frontiers in immunology
2026

Hypoparathyroidism: clinical profiles, healthcare use and costs from real-world data from Italy.

Endocrine connections
2026

Long-term Western diet feeding impairs hepatic vitamin D metabolism and promotes bone loss in mice.

EXCLI journal
2026

Visceral adipose tissue is associated with changes in leptin, FGF-23 and vitamin D metabolism in chronic kidney disease.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2026

Linking bone and brain: Dysregulated bone metabolism exacerbates cognitive impairment in bipolar disorder.

Journal of affective disorders
2026

Vitamin D Supplementation Improves Serological Parameters and Recovery Outcomes in COVID-19 Patients.

Endocrine, metabolic & immune disorders drug targets
2026

The Endocrine Giants of Chronic Kidney Disease.

JPMA. The Journal of the Pakistan Medical Association
2026

Vitamin D Status and Sepsis Outcomes: A PRISMA-Compliant Umbrella Review and Meta-Analysis.

Nutrients
2026

Impact of Vitamin D Status on Pancreatic Cancer Risk and Outcomes.

Nutrients
2026

Suboptimal Vitamin D Status Is Associated with Salmonella Infection and Elevated C-Reactive Protein in Hospitalized Children with Acute Gastroenteritis: A Retrospective Cohort Study.

Nutrients
2026

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.

International journal of molecular sciences
2026

Vitamin D Receptor Signaling and Ligand Modulation: Molecular Mechanisms and Therapeutic Implications.

International journal of molecular sciences
2026

The Vicious Cycle of Diabetic Kidney Disease, Vitamin D Deficiency, and Arterial Hypertension.

Healthcare (Basel, Switzerland)
2026

Adult-onset pseudohypoparathyroidism type 1B diagnosed by methylation analysis: A case report and diagnostic considerations.

Medicine
2026

Biologically Younger Individuals, as Identified by MARK-AGE Biological Age Scores, Display a Distinct Favourable Blood Chemistry Profile Regardless of Age.

Aging cell
2026

[Performance validation and consistency assessment of three liquid chromatography-tandem mass spectrometry methods for detecting fat-soluble vitamins].

Se pu = Chinese journal of chromatography
2026

Integrated determinants of multiple sclerosis susceptibility: Genetics, environment, infection and the microbiota.

Journal of the neurological sciences
2026

Endogenous calcitriol production and ionized hypercalcemia in 7 dogs with chronic dermatopathy of infectious and noninfectious etiology (2016-2024).

Journal of veterinary internal medicine
2026

An Update on Bile Acid-Regulated Signalling in the Pathogenesis of Metabolic Dysfunction-Associated Steatotic Liver Disease.

Liver international : official journal of the International Association for the Study of the Liver
2026

Hormone- and cytokine-mediated signalling in the maintenance of bone balance.

Journal of molecular endocrinology
2026

Microbiota metabolite lithocholic acid in cancer: Mechanisms and therapeutic potential.

Experimental cell research
2026

A multi-target combinatorial therapy of MDBA alleviates atopic dermatitis via synchronized immunosuppression and barrier repair.

European journal of pharmacology
2026

Association between vitamin D and serum uric acid in a large Chinese cohort of middle-aged and elderly Chinese men and women.

Frontiers in nutrition
2026

1,25D3 reprograms mitochondrial quality control via sirtuin and sensitizes glioblastoma to chemotherapy.

Molecular therapy : the journal of the American Society of Gene Therapy
2026

Chenodeoxycholic acid redirects the bile acid synthetic pathway to limit pro-inflammatory neutrophil infiltration and alleviate colitis.

Molecular therapy : the journal of the American Society of Gene Therapy
2026

Amorphous calcium carbonate supplementation and bone outcomes in rheumatoid arthritis: A prospective cohort study.

Medicine
2025

Assessment of biochemical markers associated with inflammation in patients with type 2 diabetes mellitus.

La Tunisie medicale
2025

Conundrum of Cholesterol Management and Health Implications of Low Cholesterol Levels: A Narrative Review.

JNMA; journal of the Nepal Medical Association
2026

Heterogeneous regulation of fibroblast growth factor 23 in acute kidney injury, chronic kidney disease, and polycystic kidney disease: mechanisms, diagnostic utility, and clinical implications.

Frontiers in molecular biosciences
2026

Essential micronutrients and biguanides (metformin) synergistic and antagonistic interactions on neurocognitive outcomes in type two diabetes mellitus: a systematic review of preclinical and clinical evidence.

Frontiers in endocrinology
2026

Vitamin D status in relation to lower extremity arterial plaque and diabetic foot ulcers in type 2 diabetes.

The Journal of international medical research
2026

Genetic variations and clinical implications of B-thalassemia in Iraqi population.

PloS one
2026

Association of VitD 3 deficiency with thyroid nodules suspected of malignancy in petroleum workers: a retrospective cohort study.

PeerJ
2026

Impact of oral phosphate supplements and active vitamin D treatment on dentoalveolar features of X-linked hypophosphatemia.

JBMR plus
2026

The Intimate Relationship between Adipose Tissue, Fertility, and Bone.

Journal of frailty, sarcopenia and falls
2026

Unraveling the Origins of Thyroid Nodules: Inflammation, Hormones, Toxins, and Micronutrient Interactions.

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme
2026

Osteoporosis in Indian Males: Lumbar Spine DEXA Findings Among the Clinically Referred Cases.

La Clinica terapeutica
2026

Vitamin D deficiency, multimorbidity, and mortality in stage 2 cardiovascular-kidney-metabolic (CKM) Syndrome: evidence from the NHANES 2001-2018 cohort.

Renal failure
2026

Markers of Mineral Metabolism in Children With CKD Stages 2 to 5D.

Kidney international reports
2026

Case Report: Developmental-like skeletal deformities and transient osteosclerosis as rare presentations of primary hyperparathyroidism.

Frontiers in endocrinology
2026

Serum 25-Hydroxyvitamin D Levels and Longitudinal Changes in Muscle Mass and Function in Peritoneal Dialysis Patients: A Prospective Cohort Study.

Journal of nutritional science and vitaminology
2026

Vitamin D Status and Its Relationship with Platelet Parameters in Young Adults: Evidence from a Cross-Sectional Study.

Current medicinal chemistry
2026

Relationship Between Vitamin D Levels and Inflammatory Markers in Kidney Transplant Recipients: A Retrospective Study.

Transplantation proceedings
2026

Puerarin restores testicular steroidogenesis via VDR-cyclic AMP/PKA signaling in a chronic unpredictable stress (CUS) rat model.

The Journal of steroid biochemistry and molecular biology
2026

Gut microbiome and bile acid metabolism in liver disease: Mechanisms, clinical implications, and therapeutic opportunities.

Pharmacological reviews
2026

Interrelationship between lipid and bone metabolism in postmenopausal women.

Wiadomosci lekarskie (Warsaw, Poland : 1960)
2026

Association of Vitamin D and Weight Status With Neurodevelopmental Outcomes in a Large Pediatric Population: Cross-Sectional Study.

JMIR public health and surveillance
2026

Serum vitamin D and lean non-alcoholic fatty liver disease: a nonlinear 'L-shaped' association in a national cross-sectional study.

Annals of medicine
2026

The Role of Vitamin D in Severity and Control of Asthma in Children and Adolescents: A Systematic Review and Meta-Analysis.

Pediatric pulmonology
2026

Vitamin D in Infectious Diseases: A Narrative Review Focusing on COVID-19, Long COVID, and Influenza.

Nutrients
2026

Vitamin D-Mediated Immunoregulation in Degenerative Diseases: Insights into Cardiovascular, Neurodegenerative and Musculoskeletal Disorders.

Nutrients
2026

Vitamin D Sufficiency Revisited: Evidence of a Dose-Response Effect for MASLD in Adults at Risk.

Nutrients
2026

The Role of Vitamin D3 in Periodontal Health: Implications for Bone Metabolism, Immune Modulation and Inflammation Control.

Nutrients
2026

Micronutrients in Autoimmune Diseases: Shining a Light on Vitamin D, Cobalamin, Folate, and Iron Metabolism.

Nutrients
2026

Effect of Oxidative Stress Intensity on Inflammatory, Bone Turnover, and Haemostasis Biomarkers in Patients with Spinal Osteoarthritis.

Life (Basel, Switzerland)
2026

Hemoglobin-to-Red Cell Distribution Width Ratio and Vitamin D Status as Early Predictors of Cardiovascular Risk in Primary Sjögren's Syndrome.

Life (Basel, Switzerland)
2026

Effects of Gender, Menopause, Vitamin D Status, and Tumor Parathyroid Cell Activity on Serum Phosphate Levels in a Large Cohort of Patients with Sporadic Hypercalcemic Primary Hyperparathyroidism.

International journal of molecular sciences
2026

The Impact of Hyperphosphatemia on Mineral and Bone Metabolism: Implications for Bone and Vascular Health.

International journal of molecular sciences
2026

Integrative Vitamin D-Inflammatory-Coagulation Biomarker Index Predicts COVID-19 Severity: Development and Validation of the Vitamin D Inflammatory Burden Score (VDIBS).

International journal of molecular sciences
2026

The Interplay Between Bone Biology and Iron Metabolism: Molecular Mechanisms and Clinical Implications.

Biomedicines
2026

Distinct Biomarker Patterns Reveal Metabolic-Inflammatory Profiles Across Mental Disorders.

Biomolecules
2026

Uremic Toxin-Driven Vascular Calcification in Chronic Kidney Disease: Molecular Pathways and Integrated Phenotypes.

Toxins
2025

Association between the CYP24A1 rs2762939 polymorphism and vascular calcification in Indonesian patients with chronic kidney disease on hemodialysis.

Narra J
2026

Association Between Serum Vitamin D3 Levels and Diabetic Macular Edema in Patients with Type 2 Diabetes: A Retrospective Case-Control Study.

Diabetes, metabolic syndrome and obesity : targets and therapy
2026

Quantification of 24,25-Dihydroxyvitamin D3 in Serum Using LC-MS/MS With Derivatization and Lipid-Removal Filtration.

International journal of analytical chemistry
2025

Fibroblast growth factor 23 and left ventricular hypertrophy in dialyzed versus nondialyzed children with chronic kidney disease.

Annals of pediatric cardiology
2026

Evaluation of the relationship between vitamin levels and symptom severity in adults with attention-deficit/hyperactivity disorder.

Scientific reports
2026

Association of vitamin D receptor genetic variants with therapeutic response in multidrug-resistant pulmonary tuberculosis: a systematic review.

Frontiers in cellular and infection microbiology
2026

Vitamin D disrupts NS1-TUFM interaction to suppress pathogenic mitophagy in RSV-induced mitochondrial injury of bronchial epithelial cells.

Journal of microbiology (Seoul, Korea)
2026

25-nitro-20-epi-vitamin D analogue with anti-proliferative and cytoprotective properties: Biological and pharmacological evaluation.

Experimental and molecular pathology
2026

Apolipoprotein C3 exacerbates vascular calcification by promoting ferroptosis via the TLR2/AMPK pathway in vascular smooth muscle cells.

Redox biology
2026

Machine learning prediction of metabolic-associated fatty liver disease in type 2 diabetes: Emphasizing data imputation and feature selection.

PloS one
2026

Therapeutic opportunities for CKD-associated osteoporosis in adults with kidney failure imply screening.

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

Cardiovascular and bone health comorbidities in epilepsy.

Current opinion in neurology
2026

Osteomalacia 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 reports
2026

Pleiotropic immunoregulation by bile acids in pathophysiology.

Frontiers in immunology
2026

Lacylation of Stearoyl-CoA Desaturase-1 Contributes to the Myocardial Ischemia-Reperfusion Injury Through Regulating Wnt/β-Catenin Signaling.

Journal of cardiovascular translational research
2026

A newly developed circadian imbalance index (CII) and risk of cardiovascular-kidney-metabolic disease in the UK biobank.

European journal of epidemiology
2026

Vitamin D Reprograms Non-Coding RNA Networks to Block Zika Virus in Human Macrophages.

Pathophysiology : the official journal of the International Society for Pathophysiology
2024

VDR mRNA Expression And Serum Vitamin D Levels in Post-Covid Vaccinated Patients.

F1000Research
2026

Interpretable Prediction of Late-Stage CKM Syndrome Association From Dietary Nutrients in Accelerated Aging Using SHAP and LIME.

Food science & nutrition
2025

The Impact of the COVID-19 Pandemic on Osteoporosis Diagnosis and Treatment in Iran: A National Study.

International journal of endocrinology and metabolism
2026

Bone 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 Society
2026

Precision staging of Type 2 diabetes through Hypergraph-Based multimorbidity Profiling: From hepatic disruption to cardiovascular escalation.

Diabetes research and clinical practice
2026

Determinants of extracellular fluid calcium concentration in patients with chronic hypoparathyroidism.

European journal of endocrinology
2026

Bone health up to five years after Roux-en-Y gastric bypass: a cross-sectional study during the COVID-19 pandemic.

Acta cirurgica brasileira
2026

Combining metabolic and checkpoint therapy: 1,25-dihydroxyvitamin D₃ enhances the antiviral efficacy of anti-PD-1 in BVDV infection.

Veterinary microbiology
2026

KDM6A alternative splicing induced by 25(OH)D inhibits breast cancer cell stemness through repressing TRAP1 transcription.

Oncogene
2026

Establishing Reference Intervals for Fat-Soluble Vitamins in Healthy Chinese Adults: Study Protocol for a Cross-Sectional, Multicenter Study.

JMIR research protocols
2026

Evocalcet improved the PTH-calcium setpoint and suppressed parathyroid proliferation in mice model of primary hyperparathyroidism.

Journal of bone and mineral metabolism
2026

Can 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 childbirth
2026

Vitamin D3 mediates amelioration of ulcerative colitis via the TRPV1-MAPK signaling pathway.

Frontiers in immunology
2026

Elucidating 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 immunogenetics
2026

Multiple dyselectrolytemia in a patient with alcohol use disorder (AUD).

CEN case reports
2026

Vitamins and oral mucosal diseases: From bench to the bedside.

Clinics in dermatology
2026

Endocrine 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 Endocrinologists
2026

Glucolipid Metabolic Disorders and Helicobacter pylori Infection.

International journal of endocrinology
2026

Special Issue "The Role of Vitamin D in Human Health and Diseases 4.0".

International journal of molecular sciences
2026

Sex Disparities in the Processes Underlying Aging: Mitochondrial DNA Copy Number Associations with Dynapenia, 25-Hydroxyvitamin D3 Levels and Quality of Life in Older Adults.

Nutrients
2026

Vitamin D in Cardiovascular Medicine: From Molecular Mechanisms to Clinical Translation.

Nutrients
2026

Fibroblast Growth Factor-23 and Cardiovascular Disease in Patients With Chronic Kidney Disease.

Cardiology in review
2026

Pregnancy and Lactation Associated Osteoporosis of the Hip: A Systematic Review.

Calcified tissue international
2026

The associations between epilepsy, metabolism, and their clinical implications.

Frontiers in endocrinology
2026

Vitamin D Supplementation for Steatotic Liver Disease: an Updated Systematic Review and Dose-Response Meta-analysis of Randomized and Nonrandomized Interventional Studies.

Current developments in nutrition
2025

Case Report: A case of myocardial calcification combined with abnormal Q waves on electrocardiogram.

Frontiers in cardiovascular medicine
2026

Association between serum vitamin D levels and polycystic ovary syndrome: a cross-sectional study.

Frontiers in nutrition
2026

Vitamin D as a central modulator of thyroid diseases: mechanisms and clinical implications.

Frontiers in immunology
2026

Genetic insights into hepatocellular carcinoma: the role of VDR FokI (rs2228570) and TaqI (rs731236) polymorphisms in Egyptian patients.

BMC medical genomics
2026

Tenofovir-Associated Hypophosphatemic Osteomalacia in an HIV-Infected Patient: A Case Report.

Cureus
2026

Proteomic trajectories in human rotator cuff degeneration: a systematic review of immunohistochemical studies.

Journal of orthopaedic surgery and research
2026

Association of 25-hydroxyvitamin D levels and vitamin D receptor gene polymorphisms with breast cancer risk in Bangladeshi women.

Scientific reports
2026

Hormonal 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 implants
2026

Association of VDR gene polymorphisms with prediabetes and Type 2 diabetes mellitus in a sample of the Iranian population.

PloS one
2026

Magnesium - The Silent Partner or the Next Vitamin D? Shifting Paradigm in Mineral Metabolism in Health and Disease.

EJIFCC
2026

Postpartum Sacral Stress Fracture in a Primiparous Woman: A Case Report.

Cureus
2026

Prevalence of Hypercalcemia in Patients With Pulmonary Tuberculosis and Impact of Treatment.

Cureus
2026

Impact 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 physiology
2025

Exploring 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 health
2025

Sarcoidosis and Risk of Nephrolithiasis in US Black Women: Data from the Black Women's Health Study.

CHEST pulmonary
2026

Maternal nutritional imbalance during pregnancy and the development of fetal-origin cardiovascular diseases.

Frontiers in nutrition
2026

Multiple analysis of the nutritional status of children and adolescents in Western China.

The British journal of nutrition
2026

Effects of dietary myo-inositol supplementation on the expression of fibroblast growth factor 23 (FGF23) and αKlotho in two commercial laying hen strains.

Poultry science
2026

Allyl isothiocyanate ameliorates metabolic dysfunction-associated steatotic liver disease via vitamin D receptors in hepatocytes.

World journal of gastroenterology
2026

[Optimal serum 25(OH)D levels in relation to musculoskeletal, metabolic, neurological, autoimmune and infectious diseases].

Problemy endokrinologii
2025

Does everyone need to take vitamin D? High prevalence of CYP24A1 deficiency in the Russian population.

Problemy endokrinologii
2026

The weight-adjusted waist index predicts sarcopenia in community-dwelling older adults in a nationwide multicenter prospective study.

Scientific reports
2026

Serum 25-hydroxyvitamin D concentrations, sleep characteristics and the risk of incident dementia.

Maturitas
2026

Unraveling the mechanistic links between blood pressure regulation and calcium-magnesium homeostasis: Insights into hypertension, hyperparathyroidism, and mineral disorders.

PloS one
2026

Palopegteriparatide 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 Research
2025

Prognostic value of serum vitamin D level for renal scarring in childhood acute pyelonephritis.

The Turkish journal of pediatrics
2026

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

Scientific reports
2026

FTO-dependent m6A Demethylation Activates Mxd1 To Enhance Vitamin D-induced Suppression of Neuroinflammation Via PTEN/AKT/PGC-1α Signaling Pathways in Microglia.

Inflammation
2026

Effect of different dietary supplements on the growth and blood parameters of bearded dragons (Pogona vitticeps).

Acta veterinaria Hungarica
2025

Fahr's Syndrome Secondary to Hypoparathyroidism Presenting With Neurological and Cardiac Manifestations.

Cureus
2026

Effects 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 plus
2026

Metabolic Bone Disease in Athletes.

Seminars in musculoskeletal radiology
2026

Real-world outcomes of denosumab treatment in patients undergoing hemodialysis for osteoporosis: A 3-year observational study.

Clinical nephrology
2026

Basal Ganglia Calcification Secondary to Postsurgical Hypoparathyroidism Presenting With Seizures and Acute Confusion: A Case Report (Fahr Syndrome).

Cureus
2026

Neonatal 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 Immunology
2026

Association 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 syndrome
2026

The impact of maternal vitamin D deficiency during pregnancy and lactation on autism-like behavior in offspring.

Molecular and cellular endocrinology
2026

The calcimimetic etelcalcetide attenuates pressure overload-induced cardiac hypertrophy in rats with and without chronic kidney disease.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
2026

Osteoarthritic knee: Advances in Epidemiology, Emerging Etiopathologies and Adipose-Derived Stem Cells-based Therapies.

Aging and disease
2026

Evaluation of muscle strength assessment in adolescent polycystic ovary syndrome: a case control study.

BMC women's health
2026

Fanconi anaemia as a human model of accelerated epigenetic and immune ageing.

Ageing research reviews
2025

Preliminary Study on Circulating REG3α and Its Associations with Vitamin D Supplementation and Inflammatory Biomarkers in Adults with Overweight and Obesity.

Current issues in molecular biology
2026

Adolescent 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 Neuroscience
2025

Vitamin D supplementation and selected metabolic parameters in patients with type 2 diabetes and obesity: a prospective observational study.

Frontiers in endocrinology
2025

The interplay between childhood obesity and vitamin D deficiency: mechanisms and implications.

Frontiers in pediatrics
2026

Disrupted Vitamin D Signaling and Metabolism in Neurodevelopmental and Neurodegenerative Disorders.

ASN neuro
2025

Research progress on risk factors of recurrence of benign paroxysmal positional vertigo.

Frontiers in neurology
2025

Severe Hypercalcemia Revealing Acute Lymphoblastic Leukemia: A Case Report.

Cureus
2025

Predictors of Shoulder Pathology in Rheumatoid Arthritis: A Cross-Sectional Study.

Cureus
2025

Refractory Prinzmetal Angina With Severe Right Coronary Artery Vasospasm and Bradycardia in a 46-Year-Old Female: A Complex Case Associated With Hypophosphatemia.

Cureus
2025

Bile acids as therapeutic agents.

Frontiers in pharmacology
2026

Vitamin D Status in Rheumatology Patients with Inflammatory Compared with Non-Inflammatory Diagnoses: Inflammatory and Autoimmune Markers Are Not Associated with Vitamin D Levels.

Nutrients
2026

Vitamin D Deficiency and Replacement Challenges in Type 1 Gastric Neuroendocrine Tumors: A Comparative Study.

Nutrients
2026

The Role of Vitamin D in Autoimmune Thyroid Diseases: From Immunomodulation to Clinical Implications.

Nutrients
2026

The Impact of Nutritional Status on Survival and Development of Sarcoidosis: A Scoping Review of Current Evidence and Research Gaps.

Nutrients
2026

Disrupted Vitamin D Metabolism in Hepatocellular Carcinoma: Free and Bioavailable 25(OH)D as Novel Biomarkers of Hepatic Reserve and Clinical Risk.

Molecules (Basel, Switzerland)
2026

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)
2026

Endocrine Disorders of Calcium Signaling in Children: Neuroendocrine Crosstalk and Clinical Implications.

Cells
2025

Cinacalcet Efficacy in Hyperparathyroidism-Chronic Kidney Disease-Non-Dialysis, Hemodialysis, Peritoneal Dialysis, Kidney Transplantation: Critical Review.

Biomedicines
2026

Animal Tissue Mineralization: An Overview of Disease Processes, Comparative Pathology, and Diagnostic Approaches.

Biomolecules
2026

Sex and Gender Aspects in Vestibular Disorders: Current Knowledge and Emerging Perspectives-A Systematic Review.

Diagnostics (Basel, Switzerland)
2026

Rat models for arterial calcification associated with chronic kidney disease: a systematic review and meta-analysis.

BMC cardiovascular disorders
2026

Fibroblast growth factor 23-induced hypophosphatemia in a malignant phosphaturic mesenchymal tumor: presentation of a rare case.

Clinical biochemistry
2025

Femoral Neck Bone Marrow Edema During Isotretinoin Therapy: A Case Report.

American journal of physical medicine & rehabilitation
2025

Emerging Therapeutic Approaches for Tic Alleviation in Tourette Syndrome: The Role of Micronutrients.

Neurology international
2026

Metabolic Bone Disease in Captive Flying Foxes: A Conceptual Framework and Future Perspectives.

Metabolites
2026

A 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 medicine
2026

Low serum 25-hydroxyvitamin D is associated with fatigue in older women with metastatic breast cancer.

Clinical nutrition ESPEN
2026

Bidirectional Mendelian randomization analysis investigating causal associations between 35 blood and urine biomarkers and oral lichen planus.

Medicine
2025

Long-term follow-up of a randomized controlled trial on individualized fortification of human milk.

Frontiers in nutrition
2025

Increased 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
2026

[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 zazhi
2026

Association between serum 25-hydroxyvitamin D levels and cardiometabolic index among overweight/obese U.S. adults: A cross-sectional study.

Medicine
2026

Predictors of vitamin D deficiency and quality of life in obese patients with obstructive sleep apnea.

Scientific reports
2026

Metabolic activation of lumisterol to biologically active metabolites and their mechanism of action.

Biochemical pharmacology
2025

Complex Febrile Seizures As the Initial Presentation of Nutritional Rickets Due to Severe Vitamin D Deficiency.

Cureus
2026

Metabolic Workup for Bone Stress Injury: A Practical Approach for Evaluating Bone Health in Athletes.

Sports health
2026

Relationship between impaired glucose metabolism and bone mineral density in patients with cystic fibrosis.

European journal of pediatrics
2026

Blood biomarkers of frailty and cognition: A scoping review.

Neurobiology of aging
2026

Review on the hepatic osteodystrophy in poultry: From pathogenesis to management implications.

Poultry science

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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. Amyloid-β as a target to suppress tonic PTH hypersecretion in hyperparathyroidism due to vitamin D deficiency.
    Science translational medicine· 2026· PMID 41849578mais citado
  2. 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.
    International journal of molecular sciences· 2026· PMID 41828718mais citado
  3. Vitamin D Receptor Signaling and Ligand Modulation: Molecular Mechanisms and Therapeutic Implications.
    International journal of molecular sciences· 2026· PMID 41828612mais citado
  4. Biologically Younger Individuals, as Identified by MARK-AGE Biological Age Scores, Display a Distinct Favourable Blood Chemistry Profile Regardless of Age.
    Aging cell· 2026· PMID 41823324mais citado
  5. Integrated determinants of multiple sclerosis susceptibility: Genetics, environment, infection and the microbiota.
    Journal of the neurological sciences· 2026· PMID 41812343mais citado
  6. Adult-onset pseudohypoparathyroidism type 1B diagnosed by methylation analysis: A case report and diagnostic considerations.
    Medicine (Baltimore)· 2026· PMID 41824862recente
  7. An Update on Bile Acid-Regulated Signalling in the Pathogenesis of Metabolic Dysfunction-Associated Steatotic Liver Disease.
    Liver Int· 2026· PMID 41811003recente
  8. Puerarin restores testicular steroidogenesis via VDR-cyclic AMP/PKA signaling in a chronic unpredictable stress (CUS) rat model.
    J Steroid Biochem Mol Biol· 2026· PMID 41759753recente
  9. Vitamin D-Mediated Immunoregulation in Degenerative Diseases: Insights into Cardiovascular, Neurodegenerative and Musculoskeletal Disorders.
    Nutrients· 2026· PMID 41754146recente
  10. 25-nitro-20-epi-vitamin D analogue with anti-proliferative and cytoprotective properties: Biological and pharmacological evaluation.
    Exp Mol Pathol· 2026· PMID 41734645recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:289098(Orphanet)
  2. MONDO:0017322(MONDO)
  3. GARD:21132(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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

Doenças do metabolismo da vitamina D
Compêndio · Raras BR

Doenças do metabolismo da vitamina D

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