Raras
Buscar doenças, sintomas, genes...
Osteólise carpo-társica multicêntrica com ou sem nefropatia
ORPHA:2774CID-10 · M89.5CID-11 · FB86.2OMIM 166300DOENÇA RARA

A osteólise multicêntrica idiopática é uma síndrome muito rara caracterizada pela perda progressiva dos ossos, geralmente nos punhos e nos pés, sem uma causa conhecida. Isso resulta em deformidades e limitações físicas. Em muitos casos, a doença também causa uma falha crônica dos rins. Além disso, os problemas nos ossos e nos rins podem estar associados, às vezes, a dificuldades de desenvolvimento intelectual e a alterações na aparência do rosto.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A osteólise multicêntrica idiopática é uma síndrome muito rara caracterizada pela perda progressiva dos ossos, geralmente nos punhos e nos pés, sem uma causa conhecida. Isso resulta em deformidades e limitações físicas. Em muitos casos, a doença também causa uma falha crônica dos rins. Além disso, os problemas nos ossos e nos rins podem estar associados, às vezes, a dificuldades de desenvolvimento intelectual e a alterações na aparência do rosto.

Publicações científicas
33 artigos
Último publicado: 2026 Jan

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Childhood
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: M89.5
Você se identifica com essa condição?
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🦴
Ossos e articulações
12 sintomas
😀
Face
5 sintomas
🫘
Rins
5 sintomas
👁️
Olhos
2 sintomas
📏
Crescimento
1 sintomas
🫃
Digestivo
1 sintomas

+ 19 sintomas em outras categorias

Características mais comuns

100%prev.
Face triangular
Muito frequente (99-80%)
100%prev.
Micrognatia
Muito frequente (99-80%)
100%prev.
Osteólise carpal
Muito frequente (99-80%)
100%prev.
Dor no tornozelo
Frequência: 9/9
100%prev.
Hipertensão
Obrigatório (100%)
100%prev.
Incapacidade de andar
Obrigatório (100%)
45sintomas
Muito frequente (20)
Frequente (8)
Ocasional (9)
Sem dados (8)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 45 características clínicas mais associadas, ordenadas por frequência.

Face triangularTriangular face
Muito frequente (99-80%)100%
MicrognatiaMicrognathia
Muito frequente (99-80%)100%
Osteólise carpalCarpal osteolysis
Muito frequente (99-80%)100%
Dor no tornozeloAnkle pain
Frequência: 9/9100%
HipertensãoHypertension
Obrigatório (100%)100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico33PubMed
Últimos 10 anos200publicações
Pico2026198 papers
Linha do tempo
2026Hoje · 2026
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

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.

MAFBTranscription factor MafBDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Acts as a transcriptional activator or repressor (PubMed:27181683). Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic, macrophage, osteoclast, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon promoters. Together with PAX6, transactivates weakly the glucagon gene promoter through the G

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (1)
Activation of anterior HOX genes in hindbrain development during early embryogenesis
MECANISMO DE DOENÇA

Multicentric carpotarsal osteolysis syndrome

A rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Intellectual disability and minor facial anomalies have been noted in some patients.

EXPRESSÃO TECIDUAL(Ubíquo)
Baço
181.0 TPM
Skin Sun Exposed Lower leg
133.1 TPM
Skin Not Sun Exposed Suprapubic
83.0 TPM
Tecido adiposo
63.3 TPM
Mama
50.0 TPM
OUTRAS DOENÇAS (4)
multicentric carpo-tarsal osteolysis with or without nephropathyDuane retraction syndrome 3 with or without deafnessDuane retraction syndromeDuane retraction syndrome with congenital deafness
HGNC:6408UniProt:Q9Y5Q3

Variantes genéticas (ClinVar)

39 variantes patogênicas registradas no ClinVar.

🧬 MAFB: GRCh37/hg19 20q11.21-13.12(chr20:31010829-44560369)x1 ()
🧬 MAFB: NM_005461.5(MAFB):c.509C>A (p.Ser170Ter) ()
🧬 MAFB: NM_005461.5(MAFB):c.284T>A (p.Met95Lys) ()
🧬 MAFB: NM_005461.5(MAFB):c.618C>A (p.Ser206Arg) ()
🧬 MAFB: NM_005461.5(MAFB):c.136T>C (p.Cys46Arg) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 104 variantes classificadas pelo ClinVar.

10
94
Patogênica (9.6%)
VUS (90.4%)
VARIANTES MAIS SIGNIFICATIVAS
MAFB: NM_005461.5(MAFB):c.176C>T (p.Pro59Leu) [Pathogenic/Likely pathogenic]
MAFB: NM_005461.5(MAFB):c.176C>G (p.Pro59Arg) [Likely pathogenic]
MAFB: NM_005461.5(MAFB):c.626A>G (p.Asp209Gly) [Uncertain significance]
MAFB: NM_005461.5(MAFB):c.19A>C (p.Met7Leu) [Uncertain significance]
MAFB: NM_005461.5(MAFB):c.22G>C (p.Gly8Arg) [Uncertain significance]

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

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.
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Osteólise carpo-társica multicêntrica com ou sem nefropatia

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

0 ensaios clínicos encontrados.

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

Timeline de publicações
3 papers (10 anos)
#1

Systemic inflammation, multi-organ injury, and acute kidney risk in psittacosis pneumonia: a biomarker-driven clinical characterization.

Frontiers in cellular and infection microbiology2026

Psittacosis pneumonia, which is caused by Chlamydia psittaci, is a systemic inflammatory disease that often results in injury to multiple organs. Although liver and heart involvement are recognized, the incidence, risk factors, and predictors for acute kidney complications are not well known. Our retrospective cohort study included 123 patients, comprising 47 individuals diagnosed with psittacosis pneumonia and 76 individuals with typical community-acquired pneumonia (CAP). These patients were admitted to Nanjing First Hospital, affiliated with Nanjing Medical University, between June 2019 and July 2024. The study conducted an analysis of clinical profiles, laboratory markers, and patient outcomes. The predictive efficacy of the Blood Urea Nitrogen to Albumin Ratio (BAR) and Lactate Dehydrogenase (LDH) in forecasting acute kidney injury (AKI) was assessed through the application of receiver operating characteristic (ROC) curve analysis. In comparison to typical CAP, psittacosis pneumonia is characterized by markedly elevated systemic inflammation, as evidenced by increased levels of procalcitonin (PCT), C-reactive protein (CRP), and interleukin-6 (IL-6). Additionally, it presents with more severe lymphocytopenia, hypoalbuminemia, and extensive multi-organ damage, with a pronounced impact on hepatic and myocardial tissues. The incidence of AKI was significantly greater in the psittacosis group compared to the control group (34.0% versus 12.1%, P=0.003). In the psittacosis cohort, AKI demonstrated an independent association with increased levels of LDH (P = 0.01) and the BAR (P < 0.001), whereas no such association was observed with traditional inflammatory markers. The BAR (AUC = 0.88) and LDH (AUC = 0.79) demonstrated effective predictive capabilities for AKI, with their combined application enhancing sensitivity to 85.71% and specificity to 87.50%. The implementation of targeted therapy using omadacycline resulted in prompt clinical and biochemical improvements across all patients. Psittacosis pneumonia constitutes a distinct systemic immuno-inflammatory syndrome that presents a significant risk for AKI. The composite biomarker BAR and the cellular injury marker LDH demonstrate superior predictive capabilities for AKI compared to traditional inflammatory indices, thereby providing accessible tools for early risk stratification. These findings emphasize the necessity of recognizing psittacosis as a unique clinical entity and advocate for vigilant monitoring of renal function in affected patients.

#2

ODF3B Promotes the Progression of Clear Cell Renal Cell Carcinoma via the JAK/STAT Signaling Pathway.

Medical science monitor : international medical journal of experimental and clinical research2026 Mar 25

BACKGROUND Clear cell renal cell carcinoma (ccRCC) is the most common renal malignancy, often associated with poor prognosis due to metastasis and treatment resistance. The Janus kinase/signal transducer and activator of transcription (JAK/STAT) pathway is a major oncogenic driver in ccRCC, but its upstream regulators remain unclear. Outer dense fiber of sperm tails 3B (ODF3B), initially identified in sperm flagella, shows aberrant expression in a subset of human malignancies, and emerging transcriptomic data suggest notable dysregulation of ODF3B in ccRCC, although its functional role in this tumor type remains unknown. MATERIAL AND METHODS ODF3B expression was analyzed using data from The Cancer Genome Atlas (TCGA) and validated in ccRCC cell lines. Prognostic significance was evaluated through clinicopathological and survival analyses. Functional assays, including Cell Counting Kit 8, colony formation, wound healing, Transwell assay, and flow cytometry, were performed after ODF3B knockdown in 786-O and OSRC-2 cells. Pathway enrichment analyses and Western blotting were used to explore mechanisms, and rescue experiments were conducted with the STAT3 agonist Colivelin TFA. RESULTS ODF3B was markedly upregulated in ccRCC tissues and cells, with high expression correlating with advanced stage, metastasis, and poor survival. ODF3B silencing suppressed proliferation, migration, and invasion while enhancing apoptosis, accompanied by reduced BCL2 and increased cleaved caspase-3. Bioinformatics revealed strong enrichment of JAK/STAT signaling in tumors with high expression of ODF3B. Mechanistically, ODF3B knockdown decreased phosphorylation of JAK1/2/3 and STAT3, whereas STAT3 activation rescued proliferative and anti-apoptotic effects. CONCLUSIONS ODF3B acts as a novel oncogenic driver in ccRCC by activating JAK/STAT signaling. Its overexpression predicts aggressive features and poor prognosis, highlighting ODF3B as a potential therapeutic target.

#3

Investigating PKD2 deficiency-associated cardiomyopathies using hESC-cardiomyocytes and bioengineered 3D ventricular cardiac tissue strips.

Cell death &amp; disease2026 Mar 25

Autosomal dominant polycystic kidney disease is a highly prevalent hereditary renal disorder caused by mutations in either polycystin-1 or polycystin-2. These patients also develop cardiomyopathies. However, the mechanism of how polycystin-2 defects could lead to cardiomyopathies is poorly understood. Moreover, previous studies using animal models cannot fully represent human cardiomyocyte pathophysiology. Human embryonic stem cells were differentiated into cardiomyocytes. These cardiomyocytes were transduced with viral-based polycystin-2-shRNAs, then mixed with an appropriate amount of human fetal fibroblasts, collagen, and Matrigel, and biofabricated into 3D bioengineered ventricular cardiac tissue strips (hvCTS). We used these 3D hvCTS and 2D human embryonic stem cells-derived cardiomyocytes to recapitulate polycystin-2 deficiency-associated cardiac contractile defects and to explore underlying mechanisms. Knockdown of polycystin-2 decreased the contractile force and slowed down the contraction and relaxation velocities in hvCTS, indicative of contractile malfunction. The underlying mechanisms involved an elevated endoplasmic reticulum stress and a decreased activity of sarcoplasmic reticulum Ca2+-ATPases. Alleviation of endoplasmic reticulum stress by small molecular chaperones 4-phenylbutyrate/tauroursodeoxycholic acid or stimulation of sarcoplasmic reticulum Ca2+-ATPase activity by CDN1163 partially rescued the polycystin-2 deficiency-associated contractile dysfunction in hvCTS. This study used 3D hvCTS and 2D human embryonic stem cells-derived cardiomyocytes as novel disease models to recapitulate PKD2 deficiency-associated contractile defects. We found that knockdown of polycystin-2 induces cardiomyopathies via elevating endoplasmic reticulum stress and decreasing sarcoplasmic reticulum Ca2+-ATPase activity. The results provide novel insights about polycystin-2 deficiency-associated cardiomyopathies in polycystic kidney disease patients.

#4

Causal Effects of Renin-Angiotensin-Aldosterone System Inhibition on Renal Function in Patients With Chronic Kidney Disease: A Quasi-Experimental Study.

Clinical and translational science2026 Apr

Renin-angiotensin-aldosterone system inhibitors are widely prescribed for chronic kidney disease, but their causal effect on kidney function remains uncertain. This study investigated the impact of starting renin-angiotensin blockade on renal function in adults with kidney disease. A retrospective cohort study was conducted in Korea using a quasi-experimental staggered difference-in-differences design with propensity score matching to estimate time-varying treatment effects. Overall, 1,204 adults (375 treated and 829 contemporaneous not-yet-treated controls) were followed for 3 years. Initiation of angiotensin-converting enzyme inhibitors or angiotensin II receptor blockers was recorded, and treatment exposure was categorized monthly. The primary outcome was a change in estimated glomerular filtration rate after initiation, evaluated over sequential intervals up to 12 months. The overall average treatment effect of two-way fixed effects model was not statistically significant (-1.47 mL/min/1.73 m2; p = 0.33). However, initiation was associated with an immediate and significant decline in eGFR at event time 0 (estimate: -3.87 mL/min/1.73 m2, p < 0.05) and at event time 1 and 3 (p < 0.05). Beyond these early intervals, there was no evidence of progressive deterioration in kidney function during the 1-year follow-up. Declines following initiation of renin-angiotensin blockade are early, transient, and primarily hemodynamic in nature rather than reflective of structural kidney injury. Importantly, this quasi-experimental analysis of real-world data reproduced the findings of randomized trials, reinforcing current guideline recommendations to continue therapy in chronic kidney disease provided that reduction in filtration rate remains below the accepted threshold of 30%.

#5

Analysis of the trajectory of sleep quality changes and influencing factors in maintenance haemodialysis patients in Xinjiang, China: a prospective longitudinal study.

BMJ open2026 Mar 24

To analyse the trajectory of sleep quality changes and identify influencing factors among patients undergoing maintenance haemodialysis (MHD). Longitudinal study design. The study was conducted in the nephrology departments of two tertiary hospitals in Urumqi, Xinjiang, China. This study employed convenience sampling and completed follow-up assessments for 282 patients with MHD between December 2024 and August 2025. Data collection used a general information questionnaire, the Pittsburgh Sleep Quality Index and the Self-Rating Depression Scale. Sleep quality assessment timepoints included baseline (T1), 3 months (T2) and 6 months (T3). Latent class growth models were used to identify heterogeneous trajectories of sleep quality. Univariable and multivariable logistic regression analyses were used to determine independent predictors of sleep disorders trajectory categories. Among 282 MHD patients, latent class growth modelling identified four distinct sleep trajectories: 'High-Slightly Increasing' (C1, 24.5%), 'Low-Slightly Increasing' (C2, 29.4%), 'High-Declining' (C3, 27.7%) and 'Moderate-Increasing' (C4, 18.4%). Multivariable analysis showed that, compared with C2, baseline depression significantly increased the odds of belonging to C1 (OR=8.53, p<0.001), C3 (OR=4.65, p<0.001) and C4 (OR=2.71, p=0.012). Similarly, pruritus (OR=2.46, p=0.019) and elevated C reactive protein (OR=1.03, p=0.015) were specific predictors for the C1 relative to C2. This study reveals four heterogeneous sleep trajectories in MHD patients, underscoring a dynamic view of sleep quality. Depression is an overarching risk factor for unfavourable trajectories, while pruritus and inflammation specifically predict persistent poor sleep. Early screening and targeted interventions against these factors are crucial to improve sleep quality in MHD care.

Publicações recentes

Ver todas no PubMed

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Rapidly Progressive Kidney Failure With Transient Non-Cystic Kidney Enlargement: A Case Report Highlighting Delayed Medullary Cyst Formation.

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Rosamultin Alleviates LPS-Induced Acute Kidney Injury by Promoting Autophagy and Inhibiting the NF-κB Signaling Pathway.

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Enhanced biosensing of diabetes biomarkers by using rationally engineered carbon dots.

RSC advances
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The creatinine-to-cystatin C ratio as a prognostic risk-stratification biomarker in chronic kidney disease.

Frontiers in nutrition
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Identification of PANoptosis hub genes driving immune activation and tubulointerstitial injury in diabetic kidney disease by integrative bioinformatics and machine learning.

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Integrated multi-omics analysis unveils microbiota-metabolite-host interactions and novel biomarkers for early diabetic kidney disease diagnosis.

Frontiers in immunology
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Intra-arterial infusion of bevacizumab for the treatment of peritoneal metastatic high-grade renal cell carcinoma: a case report.

Frontiers in immunology
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Autoimmunity in IgA nephropathy.

Frontiers in immunology
2026

Systemic inflammation, multi-organ injury, and acute kidney risk in psittacosis pneumonia: a biomarker-driven clinical characterization.

Frontiers in cellular and infection microbiology
2025

A PROSPECTIVE, OBSERVATIONAL STUDY ON ETIOLOGICAL SPECTRUM OF END STAGE KIDNEY DISEASE IN NORTH INDIA: DOMINANCE OF DIABETIC KIDNEY DISEASE AND EMERGING TRENDS.

Annals of Ibadan postgraduate medicine
2026

The association between family history of hypertension and diabetic kidney disease in patients with diabetes: a cross-sectional study.

Frontiers in endocrinology
2026

COVID-19 associated CKM syndrome progression in diabetic patients is linked to pancreatic beta cell dysfunction, rather than RASi use: a retrospective cohort study.

Frontiers in endocrinology
2026

Lessons learned from conducting a multi-center lower urinary tract physiology study: the LURN experience.

Continence (Amsterdam, Netherlands)
2026

Metabolic syndrome and serum uric acid level in children and adolescents with hypertension.

Journal of hypertension
2026

Stage-specific utility of obesity indices across the chronic kidney disease continuum.

Renal failure
2026

Xerosis elevates the risk of catheter-related infections in peritoneal dialysis patients.

Kidney research and clinical practice
2026

ODF3B Promotes the Progression of Clear Cell Renal Cell Carcinoma via the JAK/STAT Signaling Pathway.

Medical science monitor : international medical journal of experimental and clinical research
2026

Loss of NGAL protects against albumin-induced kidney inflammation and fibrosis.

Renal failure
2026

COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts.

Genome medicine
2026

Multimorbidity patterns and the subsequent risk of albuminuria: findings from the Stockholm Creatinine Measurements (SCREAM) project.

BMC medicine
2026

Knowledge, attitudes, and practices of pharmacists towards chronic kidney disease in Rawalpindi and Islamabad, Pakistan: a cross-sectional study.

BMC medical education
2026

A systematic review and meta-analysis of mesenchymal stem cell therapy in diabetic nephropathy and lupus nephritis or proteinuric nephropathy.

BMC nephrology
2026

Acute renal failure after dietary change - a case report.

BMC nephrology
2026

Tubulointerstitial inflammation in glomerular diseases: mechanistic pathways, prognostic value, and translational therapeutic targets.

Renal failure
2026

Determinants of hypoglycemia and hospitalization among hemodialysis patients with type 2 diabetes: insights from a multicenter study in a resource-limited healthcare system.

Renal failure
2026

Cystinosin regulates Na+/H+ exchanger 3 trafficking and function in kidney proximal tubular cells.

EMBO reports
2026

Mitochondrial dysfunction in urologic disease.

Prostate cancer and prostatic diseases
2026

Epigenetic silencing L3MBTL4 sensitizes esophageal cancer to DNA-PKcs inhibitor.

Cancer biology &amp; therapy
2026

Investigating PKD2 deficiency-associated cardiomyopathies using hESC-cardiomyocytes and bioengineered 3D ventricular cardiac tissue strips.

Cell death &amp; disease
2026

EXPRESS: Feline plasma cell pododermatitis with concurrent glomerular disease: a case series of 25 cats.

Journal of feline medicine and surgery
2026

Causal Effects of Renin-Angiotensin-Aldosterone System Inhibition on Renal Function in Patients With Chronic Kidney Disease: A Quasi-Experimental Study.

Clinical and translational science
2026

[Progress in research of effects of exposure to different-sized particulate matter on chronic kidney disease].

Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi
2026

Analysis of the trajectory of sleep quality changes and influencing factors in maintenance haemodialysis patients in Xinjiang, China: a prospective longitudinal study.

BMJ open
2026

Mazdutide 9 mg in Chinese adults with a body mass index ≥30 kg/m2 but without diabetes: A phase 2 randomized controlled trial.

Med (New York, N.Y.)
2026

Liver and Kidney volume Reduction May Underlie Metabolic Adaptation After Metabolic Bariatric Surgery: A sub-study of the "POWER" Randomized clinical trial.

Clinical nutrition (Edinburgh, Scotland)
2026

Nile red spectroscopy to evaluate disease-specific lipid alterations in glomerular kidney disease.

Methods and applications in fluorescence
2026

Frailty as a Risk-Enhancing Factor Across the Cardiovascular-Kidney-Metabolic Framework: Findings from the UK Biobank.

European journal of preventive cardiology
2026

Feasibility of the extended, 48-h ambulatory blood pressure monitoring in hemodialysis patients: a multicenter study.

Journal of hypertension
2026

Functional iron deficiency and outcomes in patients with kidney disease.

PloS one
2026

Progression of diabetic nephropathy and adverse renal outcomes: possible involvement of Toll-like receptor 4 expression.

Clinical and experimental nephrology
2026

A Novel Spatial Correlation Analysis of Peripheral Hemodynamics in a Murine Model of Vascular Calcification Using NIRS Imaging.

Annals of biomedical engineering
2026

Antifibrotic action of medicinal mushrooms Ganoderma lucidum and Polyporus umbellatus in MDCK and CRFK cells.

Veterinary research communications
2026

Tapering strategies for immunosuppressive, corticosteroid, and biologic therapy in lupus nephritis: a national survey of rheumatology and nephrology practices in Saudi Arabia.

Rheumatology international
2026

Hydrogen sulfide ameliorates oxalate crystal-related renal injury via inhibiting the activation of NOD-like receptor thermal protein domain associated protein 3 inflammasome in mice.

Urolithiasis
2026

Testosterone administration partially modulates gut microbiota responses to severe energy deficit.

American journal of physiology. Endocrinology and metabolism
2026

Qigui didang decoction alleviates renal injury in a diabetic kidney disease model with metabolic memory features: association with ferroptosis and the SIRT1/Nrf2 pathway.

Pharmaceutical biology
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Novel protein biomarkers for risk stratification and personalized medicine.

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

Hematuria as a biomarker guiding treatment decisions in IgA nephropathy? Yes.

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

Exosomal miR-26a-5p From Urine-Derived Stem Cells Mitigates Renal Fibrosis via Targeting NRAS.

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

Renal-Limited Cryofibrinogen-Associated Glomerulonephritis Diagnosed Using Electron Microscopy.

Nephrology (Carlton, Vic.)
2026

Host genetic background influences the severity of disease in Schistosoma haematobium infections.

Parasite (Paris, France)
2026

Thioxanthone-Mediated Cytoprotection Against Cisplatin Toxicity: Exploring the Potential Involvement of P-Glycoprotein Through Computational and Experimental Approaches.

Journal of xenobiotics
2026

Assessing the Potential of a Formalin-Killed Cells (FKC) Vaccine Against Edwardsiella anguillarum in Milkfish (Chanos chanos).

Journal of fish diseases
2026

ZXDB Drives Macrophage Inflammatory Programming in Sepsis-Induced Acute Kidney Injury by Recruiting EIF4A3 to Enhance ACACA Translation.

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

Mitochondrial DNA Damage Induced by Aristolochic Acid I: Recognizing the Heart as a Target Organ.

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

The Biochemical journal
2025

Acute kidney injury after major hepatectomy: association with postoperative complications and post-hepatectomy liver failure.

BJS open
2026

Prediction Models and Prognostic Analysis of Immune-Related Acute Kidney Injury in Lung Cancer Patients.

Technology in cancer research &amp; treatment
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[Use of NSAIDs in inflammatory bowel disease].

Lakartidningen
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Severe COVID-19 in the Republic of Korea: Epidemiology, Risk Factors, Therapeutics, and Prognostic Models From Nationwide Data.

Journal of Korean medical science
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Advanced artificial intelligence vs simpler models for 1-year death prediction among patients receiving hemodialysis.

JAMIA open
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Selenoprotein P as a Biomarker for Microvascular Complications in Type 2 Diabetes Mellitus: A Cross-Sectional Study in South India.

Cureus
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[Contrast-induced acute kidney injury after prostatic artery embolization].

Ugeskrift for laeger
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The Protective Effect of Vitamin C Targeting Oxidative Stress on Renal Function in Patients with Septic Acute Kidney Injury: A Prospective, Randomized Controlled, Pilot Study.

International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition
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The Impact of the Relevant Factors as High-Complexity Tumors in Robot-Assisted Partial Nephrectomy.

International journal of urology : official journal of the Japanese Urological Association
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Sociodemographic and Clinical Factors Impact Non-Live Vaccine Coverage After Pediatric Solid Organ Transplantation: A Single Center Study.

Pediatric transplantation
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Impact of High Serum Lysozyme Activity on Renal Function and Survival Outcomes in Transplant-Eligible and Ineligible Acute Myeloid Leukemia.

Cancer medicine
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Predictors of chronic kidney diseases and kidney failure in patients with CAKUT: a cohort study.

International urology and nephrology
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Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.

Nature communications
2026

Antigen-specific immunotherapy with a CD4+ T cell neoepitope restrains CD8+ T cell differentiation in murine pancreatic islet grafts.

Nature communications
2026

Frailty, socioeconomic factors, and nutritional biomarkers in patients with nondialysis chronic kidney disease: A cross-sectional analysis.

The Journal of international medical research
2026

Society for Immunotherapy of Cancer (SITC) clinical practice guideline on immunotherapy for the treatment of renal cell carcinoma, version 3.0.

Journal for immunotherapy of cancer
2026

Concordance Between the Minimum Data Set Kidney Impairment I1500 Item and eGFR Records in Nursing Homes.

Journal of the American Medical Directors Association
2026

Influence of tacrolimus concentration-to-dose ratio on CLAD risk in lung transplant recipients.

Transplant immunology
2026

Research on the compatibility mechanism of the Tingli Dazao Xiefei Decoction by multi-organ metabolomics strategy.

Journal of ethnopharmacology
2026

Comparison of incidence patterns and risk profiles of ST-elevation and non-ST-elevation myocardial infarction in type 1 diabetes in Finland: a nationwide cohort study.

The lancet. Diabetes &amp; endocrinology
2026

Comparative analysis of surgical costs vs. theoretical tiopronin therapy in pediatric cystinuria: a single-center experience from Türkiye.

The Turkish journal of pediatrics
2026

[Genetic kidney diseases].

Deutsche medizinische Wochenschrift (1946)
2026

Efficacy and safety of belimumab in IgA nephropathy: real-world evidence.

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

Hematuria as a biomarker guiding treatment decisions in IgA nephropathy? no.

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

ENDOTHELIUM-DERIVED ENDOTHELIN-1 MEDIATES SICKLE CELL NEPHROPATHY.

Function (Oxford, England)
2026

The m5C orchestrator NSUN7 drives SPARC/HMGB1 axis-mediated inflammation to exacerbate kidney injury.

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

Enhanced hypoxia resistance distinguishes human pluripotent stem cell-derived islets from primary islets.

American journal of physiology. Cell physiology
2026

Exosomes: A New Target for Chinese Medicine in Treating Kidney Diseases.

Chinese journal of integrative medicine
2026

Distinct clinicopathological features of IgA nephropathy associated with Crohn's disease: comparison with ulcerative colitis and non-IBD IgA nephropathy.

Clinical and experimental nephrology
2026

MHC class II and PLA2R investigating the epitope presentation deficits driving antibody production in membranous nephropathy.

International urology and nephrology
2026

Observation on the short-term efficacy of telitacicept in the treatment of primary IgA nephropathy.

International urology and nephrology
2026

A Review of the Fear of Hypoglycemia Literature in Children and Adolescents with Type 1 Diabetes and their Caregivers.

Current diabetes reports
2026

Surviving Sepsis Campaign International Guidelines for the Management of Sepsis and Septic Shock in Children 2026.

Intensive care medicine
2026

The time has come for optimizing beta-lactam therapy in critically ill patients with renal dysfunction.

Intensive care medicine
2026

Psychiatric Disease and Medical Financial Burden Among Commercially Insured Adult Kidney Transplant Recipients in the United States.

Clinical transplantation
2026

Omental band induced bowel ischemia following combination immunotherapy in a patient with renal cell cancer.

Irish medical journal
2026

Leveraging Machine Learning to Predict Delayed Graft Function Occurrence and Length in Kidney Transplant Recipients.

Clinical transplantation
2026

Executive Summary: Surviving Sepsis Campaign International Guidelines for the Management of Sepsis and Septic Shock in Children 2026.

Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies
2026

Seventy-Five Years of NIH NIDDK Funding Has Increased Knowledge and Greatly Impacted Clinical Care.

Neurourology and urodynamics
2026

Extracellular vesicle miR-93-5p cargo regulates glomerular endothelial cell damage in Alport syndrome.

JCI insight
2026

Combined single-cell transcriptome and immune repertoire analysis reveals hepatic and renal immune injury by heat stroke.

JCI insight
2026

Elevated Fatty Acid Binding Protein 4 (FABP4) Associated With Liver Damage and Kidney Complications in Thalassemia Patients.

BioMed research international
2026

Prevalence and influencing factors of malnutrition in maintenance hemodialysis patients in China: a systematic review.

Frontiers in public health
2026

Montelukast and Delirium Risk During Intensive Care Unit (ICU) Stay: Findings from a Cohort Study.

Clinical pharmacology : advances and applications
2026

Renal macrophage TLR7 signaling in lupus nephritis: from pathogenic mechanisms to therapeutic opportunities.

Frontiers in immunology
2026

IgM-mediated protection drives early B-cell activation and mucosal containment of Vibrio anguillarum in Atlantic cod (Gadus morhua).

Frontiers in immunology
2026

The IDO1/AhR-HIF-1α metabolic axis: ARNT competition as a central antagonistic switch in autoimmune pathogenesis.

Frontiers in immunology
2026

Long-term outcomes in primary membranous nephropathy: a Chinese cohort study with novel target antigen.

Frontiers in immunology
2026

Surgical Risk Following Carpal Tunnel Release in Non-cirrhotic Non-alcoholic Fatty Liver Disease Versus Non-alcoholic Cirrhosis: A Propensity-Matched Analysis.

Cureus
2026

Extracapillary Proliferation Superimposed on Primary Membranous Glomerulonephritis: A Case Report.

Cureus
2026

Development and validation of a multivariable prediction model for non-invasive discrimination between diabetic and non-diabetic kidney disease in type 2 diabetes: a clinical nomogram.

Frontiers in endocrinology
2026

Development and validation of early-stage and progression prediction models for chronic kidney disease: a retrospective study.

PeerJ
2026

Pressure cycling technology-assisted data-independent acquisition proteomics reveals molecular alterations and potential therapeutic targets in minor glomerular abnormalities.

Precision clinical medicine
2026

Precision targeting of gut-kidney axis: mucosal immunomodulation in IgA nephropathy-a perspective.

Frontiers in medicine
2026

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

Drug design, development and therapy
2026

Effects of combining Shugan Jieyu capsule treatment with group psychological counseling on alexithymia in hemodialysis patients.

Frontiers in pharmacology
2026

Gender Differences in Major Risk Factors for Cardiovascular Disease in Mexican Adults.

Global heart
2026

MANF Clears Mutant Uromodulin in Human Kidney Organoids of Autosomal Dominant Tubulointerstitial Kidney Disease.

bioRxiv : the preprint server for biology
2026

Cerebral Neurodegeneration and Cognitive Impairment in Patients on Maintenance Hemodialysis: the Role of Neuroglia and Associated Factors (Review).

Sovremennye tekhnologii v meditsine
2026

A non-invasive predictive model for identifying non-diabetic kidney disease in type 2 diabetes mellitus: development and multicenter validation.

American journal of clinical and experimental urology
2026

Makorin Ring Finger Protein 1 Inhibits Cell Proliferation in Renal Angiomyolipoma via the ERK/MAPK Signaling Pathway.

Kidney diseases (Basel, Switzerland)
2026

Integrated Bioinformatic Analysis of the Shared Molecular Mechanisms Between Diabetic Nephropathy and Atherosclerosis.

Journal of inflammation research
2026

CYBB-Mediated Ferroptosis Drives Podocyte Injury in Lupus Nephritis and Represents a Therapeutic Target.

Journal of inflammation research
2026

The Inflammation Effect in the Association Between Bilirubin and Chronic Kidney Disease in Patients with Type 2 Diabetes: A Retrospective Cohort Study.

Journal of inflammation research
2026

The Metabolic Dialogue Between the Gut and Distant Organs: From Microbial Products to Host Responses.

Comprehensive Physiology
2026

An oral nanocombinatorial agent exhibits pleiotropic improvement in diabetic nephropathy via modulation of the SCAP/SREBPs pathway.

Journal of nanobiotechnology
2026

Autoantibodies Targeting Complement Regulating Factors Induced C3 Glomerulopathy Resambling C4 Dense Deposit Disease: A Case Report.

Nephrology (Carlton, Vic.)
2026

Emphysematous Pyelonephritis After Embolization of a Nonfunctioning Kidney Graft.

Nephrology (Carlton, Vic.)
2026

Cardiovascular, Kidney, and Metabolic Network Medicine - Past, Present, and Future Challenges and Directions.

Circulation journal : official journal of the Japanese Circulation Society
2026

JCS 2026 Guideline on Management of Large Vessel Vasculitis.

Circulation journal : official journal of the Japanese Circulation Society
2026

Evaluation of clinical decision support to improve guideline directed medical therapy in patients with type 2 diabetes.

Journal of the American Pharmacists Association : JAPhA
2026

A double-blind, randomized, placebo-controlled, phase 2 trial examined the efficacy and safety of monlunabant in adults with diabetic kidney disease.

Kidney international
2026

Cancer Therapy and the Kidney.

Kidney international
2026

Single-cell sequencing reveals metabolic reprogramming and immune regulation underlie the maintenance of teleost granulomas.

Fish &amp; shellfish immunology
2026

Cleavage at the nsp5/nsp6 site of SARS-CoV-2 main protease intermediate precursor is faster from a monomer than a dimer form.

The Journal of biological chemistry
2026

Dialysis Facility Closures in the US From 2018 to 2024: A Serial Cross-Sectional Study.

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

Is There a Role for Pentoxifylline in Diabetic Kidney Disease?

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

The relationship between APOL1 risk variants and with preeclampsia and fetal outcomes.

Pregnancy hypertension
2026

Salvia miltiorrhiza extract attenuates cardiorenal syndrome by inhibiting IL-1β mediated cross-talk between heart and kidney.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2026

Pomiferin protects against sepsis-associated acute liver and kidney injury via inhibition of NF-κB activation, oxidative stress, and cytochrome-c.

Scientific reports
2026

A pediatric case of C3 glomerulonephritis initially misclassified as IgA nephropathy with a favorable response to C3-targeted therapy.

Pediatric nephrology (Berlin, Germany)
2026

Urine microscopy can identify cholemic nephropathy as a distinct form of kidney dysfunction in patients with acute on chronic liver failure.

Scientific reports
2026

Non-diabetic kidney disease in a patient with type 2 diabetes mellitus: a case report.

BMC nephrology
2026

Infectious consequences of antimicrobial change from vancomycin-piperacillin/ tazobactam to vancomycin-cefepime in the prevention of AKI during orthotopic heart transplantation.

BMC infectious diseases
2026

Prevention of urinary stones with hydration: a randomised clinical trial of an adherence intervention.

Lancet (London, England)
2026

Laser microdissection coupled to mass spectrometry is more sensitive than immunohistochemistry in diagnosing phospholipase A2 receptor-positive membranous nephropathy.

Kidney international
2026

Predicting steroid treatment benefit in IgA nephropathy: are we ready for precision care?

Kidney international
2026

ALDH1A1 is a potential novel target for treatment of ADPKD.

Kidney international
2026

The Janus face of parathyroid hormone in renal osteodystrophy.

Kidney international
2026

Nobel prize-winning Treg cells in autoimmune kidney diseases and transplantation.

Kidney international
2026

KDOQI US Commentary on the KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD).

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

Survival After Coronary Artery Bypass Grafting With or Without Mitral Valve Repair for Moderate Ischemic Mitral Regurgitation.

The Annals of thoracic surgery
2026

Transcatheter vs Surgical Tricuspid Valve Repair: An Analysis of Medicare Beneficiaries.

The Annals of thoracic surgery
2026

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Annales d'endocrinologie
2026

Urinary metal mixtures and cardio-kidney-metabolic risk in adults from a legacy-contaminated area: Repeated-measures cohort evidence and computational validation.

Ecotoxicology and environmental safety
2026

Taurine attenuates diabetic nephropathy by suppressing the HMGB1/TLR4/MyD88/NF-κB axis in mice.

International immunopharmacology
2026

Effects of Aliskiren Monotherapy on Chronic Kidney Disease: A Systematic Review and Meta-Analysis of Blood Pressure and Urinary Protein Excretion Outcomes.

Journal of clinical hypertension (Greenwich, Conn.)
2026

The Value of Robotic-Assisted Combined Left Renal Vein and Proximal Gonadal Vein Transposition for Nutcracker Syndrome: Preliminary Experience From a Single Centre.

The international journal of medical robotics + computer assisted surgery : MRCAS
2026

Sibeprenlimab: First Approval.

Drugs
2026

Multi-omics profiling identifies ectopic olfactory receptors as putative drivers of tumor progression and prognostic indicators in clear cell renal cell carcinoma.

Clinical and experimental medicine
2026

Integrative Insights Into Mitochondrial Dysfunction and Organelle Crosstalk in Diabetic Kidney Disease.

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

Feline comorbidities: cardiovascular and kidney diseases.

Journal of feline medicine and surgery
2026

Saline vs Contrast for Optical Coherence Tomography During Percutaneous Coronary Intervention: A Prospective Multicenter Study.

JACC. Advances
2026

Irreversible Acute Kidney Injury after Heart Transplantation-Cardiorenal Syndrome Type 1.

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)
2026

Intersecting Pathways: Exploring the Link Between Balkan Endemic Nephropathy and Distribution of Aristolochia clematitis, Air Pollution and Pliocene Lignite Coal.

Environmental toxicology
2026

Renal fibrosis is induced by hyperactive Wnt/β-catenin pathway via microbial-mediated tryptophan metabolism-driven AhR signaling in rodents and humans.

Cellular and molecular life sciences : CMLS
2026

Regulation of calcium homeostasis by S100A12 drives NETosis in chronic kidney disease.

Inflammation research : official journal of the European Histamine Research Society ... [et al.]
2026

Functional rescue of a disease-linked ERAD pathway mutation via alternative splicing.

The EMBO journal
2026

An epithelial morphogenetic program for maximal urine concentration.

Nature communications
2026

Nephroprotective Effects of Vanillic Acid on Bortezomib-Induced Renal Injury: Role of Oxidative Stress, Mitochondrial Dysfunction, Apoptosis and miR-204/Nephrin/Podocin/CD2AP Axis.

Basic &amp; clinical pharmacology &amp; toxicology
2026

Enhancing chronic kidney disease care through risk prediction: A review of the kidney failure risk equation.

Nefrologia
2026

Analysis of the association between Healthy Eating Index (HEI)-2020 and diabetic kidney disease in type 2 diabetes patients: Based on the NHANES database.

Nefrologia
2026

Interpretation of glycaemic variability in type 2 diabetes mellitus patients on maintenance haemodialysis using continuous glucose monitoring.

Nefrologia
2026

Investigating gut microbiome dysbiosis in adults with chronic kidney disease: Diabetes-induced alterations via metagenomics and qPCR.

Life sciences
2026

Anti-lymphocyte globulin versus anti-thymocyte globulin in kidney transplant patients with preformed donor specific antibodies.

Transplant immunology
2026

Prolonged cold ischemia promote the progression of chronic allograft nephropathy by chemokine C-C ligand 2 induced macrophage recruitment.

Transplant immunology
2026

Bioengineered baculovirus-derived extracellular vesicles loaded with of γ-carboxylated Gla-rich protein: Dual modulation of inflammation and vascular calcification.

Biomaterials advances
2026

Dietary Aspergillus niger filtrate: A natural supplement to boost quail breeder productivity and health.

Poultry science
2026

A rare overlap: an image of ANCA-associated glomerulonephritis superimposed on membranous nephropathy.

Jornal brasileiro de nefrologia
2026

Renal cell carcinoma presenting with orbital metastasis as the initial symptom: A case report.

Medicine
2026

Association between statin use and major adverse cardiovascular events in patients with chronic kidney disease and cardiomyopathy: A retrospective case-control study.

Medicine
2026

Artificial intelligence models for osteoporosis risk prediction in postmenopausal women with CKD: A cross-sectional analysis of NHANES 2005 to 2018.

Medicine
2026

Simplified versus traditional citrate anticoagulation in hemodialysis: Impact on clinical efficacy and patient prognosis, and correlative analysis.

Medicine
2026

Acute kidney injury caused by traditional Chinese medicinal scorpion: Case report.

Medicine
2026

Tuberculosis in advanced chronic kidney disease: An Observational Study at a Tertiary Care Center in Mexico.

PloS one
2026

Application of VVI layered strain technology to analyze changes in left ventricular myocardial motion in patients with uremia.

PloS one
2026

The lived experience of adolescents with X-linked hypophosphataemia treated with burosumab at end of skeletal growth: a mixed-methods analysis.

PloS one
2026

Features of mobile apps for diabetic kidney disease self-management: A scoping review.

PloS one
2026

Patterns of opioid dose escalation in patients with chronic kidney disease initiated on opioids for the treatment of non-cancer pain.

PloS one
2026

A preliminary study on the mechanism of stromal interaction molecule 1 (STIM1) involvement in Adriamycin-induced podocyte injury.

In vitro cellular &amp; developmental biology. Animal
2026

Candidemia Attributed to a Urinary Tract Source: Retrospective Cohort Study of Risk Factors, Clinical Profiles, Therapeutic Approaches and Outcomes.

Mycopathologia
2026

Diabetes Mellitus Attenuates Response to Anti-CD20 Therapy in Primary Membranous Nephropathy Despite Equivalent B-Cell Depletion.

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

Children born to mothers receiving chronic dialysis, a national French cohort (2013-2021).

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

Angiotensin signaling is essential for stress erythropoiesis but causes retention of dysfunctional mitochondria in RBCs.

JCI insight
2026

Molecular Mechanisms of CLCN5 Missense Mutations in Dent Disease Type 1: A Comprehensive Computational Analysis and Clinical Correlations in a Chinese Cohort.

Journal of cellular and molecular medicine
2026

Contemporary Practice of Right Living Donor Nephrectomy in the United States.

Clinical transplantation
2026

Epigenetic regulation in a high-sugar environment (Review).

International journal of molecular medicine
2026

Targeting pyroptosis in renal fibrosis: From molecular mechanisms to therapeutic horizons (Review).

International journal of molecular medicine

Associações

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Comunidades

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Doenças relacionadas

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Ordenadas pelo número de sintomas em comum.

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. Systemic inflammation, multi-organ injury, and acute kidney risk in psittacosis pneumonia: a biomarker-driven clinical characterization.
    Frontiers in cellular and infection microbiology· 2026· PMID 41878259mais citado
  2. ODF3B Promotes the Progression of Clear Cell Renal Cell Carcinoma via the JAK/STAT Signaling Pathway.
    Medical science monitor : international medical journal of experimental and clinical research· 2026· PMID 41877380mais citado
  3. Investigating PKD2 deficiency-associated cardiomyopathies using hESC-cardiomyocytes and bioengineered 3D ventricular cardiac tissue strips.
    Cell death &amp; disease· 2026· PMID 41876456mais citado
  4. Causal Effects of Renin-Angiotensin-Aldosterone System Inhibition on Renal Function in Patients With Chronic Kidney Disease: A Quasi-Experimental Study.
    Clinical and translational science· 2026· PMID 41876398mais citado
  5. Analysis of the trajectory of sleep quality changes and influencing factors in maintenance haemodialysis patients in Xinjiang, China: a prospective longitudinal study.
    BMJ open· 2026· PMID 41876161mais citado
  6. Atypical Early Presentation of Multicentric Carpotarsal Osteolysis: Ankle Pain and Cavovarus Deformity Without Osteolysis.
    Cureus· 2026· PMID 41658793recente
  7. Regional Anesthesia for Pain Management in Idiopathic Multicentric Osteolysis: A Case Report.
    A A Pract· 2025· PMID 40310081recente
  8. Gorham-Stout Disease: A Case Report and Review of the Literature.
    Cureus· 2023· PMID 37303458recente
  9. Idiopathic multicentric osteolysis: upper extremity manifestations and surgical considerations during childhood.
    J Hand Surg Am· 2012· PMID 22763050recente
  10. Absence of MMP2 mutation in idiopathic multicentric osteolysis with nephropathy.
    Clin Orthop Relat Res· 2007· PMID 17563705recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2774(Orphanet)
  2. OMIM OMIM:166300(OMIM)
  3. MONDO:0008152(MONDO)
  4. GARD:3818(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q55781319(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

Compêndio · Raras BR

Osteólise carpo-társica multicêntrica com ou sem nefropatia

ORPHA:2774 · MONDO:0008152
Prevalência
Unknown
Herança
Autosomal dominant
CID-10
M89.5 · Osteolise
CID-11
Início
Childhood
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C2674705
Wikidata
Papers 10a
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