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.
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.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
+ 19 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 45 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
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
Nucleus
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.
Variantes genéticas (ClinVar)
39 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 104 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
1 via biológica associada aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Osteólise carpo-társica multicêntrica com ou sem nefropatia
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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
Ensaios em destaque
Pesquisa e ensaios clínicos
0 ensaios clínicos encontrados.
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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.
ODF3B Promotes the Progression of Clear Cell Renal Cell Carcinoma via the JAK/STAT Signaling Pathway.
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Pregnancy hypertensionSalvia miltiorrhiza extract attenuates cardiorenal syndrome by inhibiting IL-1β mediated cross-talk between heart and kidney.
Phytomedicine : international journal of phytotherapy and phytopharmacologyPomiferin protects against sepsis-associated acute liver and kidney injury via inhibition of NF-κB activation, oxidative stress, and cytochrome-c.
Scientific reportsA pediatric case of C3 glomerulonephritis initially misclassified as IgA nephropathy with a favorable response to C3-targeted therapy.
Pediatric nephrology (Berlin, Germany)Urine microscopy can identify cholemic nephropathy as a distinct form of kidney dysfunction in patients with acute on chronic liver failure.
Scientific reportsNon-diabetic kidney disease in a patient with type 2 diabetes mellitus: a case report.
BMC nephrologyInfectious consequences of antimicrobial change from vancomycin-piperacillin/ tazobactam to vancomycin-cefepime in the prevention of AKI during orthotopic heart transplantation.
BMC infectious diseasesPrevention of urinary stones with hydration: a randomised clinical trial of an adherence intervention.
Lancet (London, England)Laser microdissection coupled to mass spectrometry is more sensitive than immunohistochemistry in diagnosing phospholipase A2 receptor-positive membranous nephropathy.
Kidney internationalPredicting steroid treatment benefit in IgA nephropathy: are we ready for precision care?
Kidney internationalALDH1A1 is a potential novel target for treatment of ADPKD.
Kidney internationalThe Janus face of parathyroid hormone in renal osteodystrophy.
Kidney internationalNobel prize-winning Treg cells in autoimmune kidney diseases and transplantation.
Kidney internationalKDOQI 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 FoundationSurvival After Coronary Artery Bypass Grafting With or Without Mitral Valve Repair for Moderate Ischemic Mitral Regurgitation.
The Annals of thoracic surgeryTranscatheter vs Surgical Tricuspid Valve Repair: An Analysis of Medicare Beneficiaries.
The Annals of thoracic surgeryGenomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.
Annales d'endocrinologieUrinary metal mixtures and cardio-kidney-metabolic risk in adults from a legacy-contaminated area: Repeated-measures cohort evidence and computational validation.
Ecotoxicology and environmental safetyTaurine attenuates diabetic nephropathy by suppressing the HMGB1/TLR4/MyD88/NF-κB axis in mice.
International immunopharmacologyEffects 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.)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 : MRCASSibeprenlimab: First Approval.
DrugsMulti-omics profiling identifies ectopic olfactory receptors as putative drivers of tumor progression and prognostic indicators in clear cell renal cell carcinoma.
Clinical and experimental medicineIntegrative Insights Into Mitochondrial Dysfunction and Organelle Crosstalk in Diabetic Kidney Disease.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyFeline comorbidities: cardiovascular and kidney diseases.
Journal of feline medicine and surgerySaline vs Contrast for Optical Coherence Tomography During Percutaneous Coronary Intervention: A Prospective Multicenter Study.
JACC. AdvancesIrreversible Acute Kidney Injury after Heart Transplantation-Cardiorenal Syndrome Type 1.
Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)Intersecting Pathways: Exploring the Link Between Balkan Endemic Nephropathy and Distribution of Aristolochia clematitis, Air Pollution and Pliocene Lignite Coal.
Environmental toxicologyRenal 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 : CMLSRegulation of calcium homeostasis by S100A12 drives NETosis in chronic kidney disease.
Inflammation research : official journal of the European Histamine Research Society ... [et al.]Functional rescue of a disease-linked ERAD pathway mutation via alternative splicing.
The EMBO journalAn epithelial morphogenetic program for maximal urine concentration.
Nature communicationsNephroprotective Effects of Vanillic Acid on Bortezomib-Induced Renal Injury: Role of Oxidative Stress, Mitochondrial Dysfunction, Apoptosis and miR-204/Nephrin/Podocin/CD2AP Axis.
Basic & clinical pharmacology & toxicologyEnhancing chronic kidney disease care through risk prediction: A review of the kidney failure risk equation.
NefrologiaAnalysis of the association between Healthy Eating Index (HEI)-2020 and diabetic kidney disease in type 2 diabetes patients: Based on the NHANES database.
NefrologiaInterpretation of glycaemic variability in type 2 diabetes mellitus patients on maintenance haemodialysis using continuous glucose monitoring.
NefrologiaInvestigating gut microbiome dysbiosis in adults with chronic kidney disease: Diabetes-induced alterations via metagenomics and qPCR.
Life sciencesAnti-lymphocyte globulin versus anti-thymocyte globulin in kidney transplant patients with preformed donor specific antibodies.
Transplant immunologyProlonged cold ischemia promote the progression of chronic allograft nephropathy by chemokine C-C ligand 2 induced macrophage recruitment.
Transplant immunologyBioengineered baculovirus-derived extracellular vesicles loaded with of γ-carboxylated Gla-rich protein: Dual modulation of inflammation and vascular calcification.
Biomaterials advancesDietary Aspergillus niger filtrate: A natural supplement to boost quail breeder productivity and health.
Poultry scienceA rare overlap: an image of ANCA-associated glomerulonephritis superimposed on membranous nephropathy.
Jornal brasileiro de nefrologiaRenal cell carcinoma presenting with orbital metastasis as the initial symptom: A case report.
MedicineAssociation between statin use and major adverse cardiovascular events in patients with chronic kidney disease and cardiomyopathy: A retrospective case-control study.
MedicineArtificial intelligence models for osteoporosis risk prediction in postmenopausal women with CKD: A cross-sectional analysis of NHANES 2005 to 2018.
MedicineSimplified versus traditional citrate anticoagulation in hemodialysis: Impact on clinical efficacy and patient prognosis, and correlative analysis.
MedicineAcute kidney injury caused by traditional Chinese medicinal scorpion: Case report.
MedicineTuberculosis in advanced chronic kidney disease: An Observational Study at a Tertiary Care Center in Mexico.
PloS oneApplication of VVI layered strain technology to analyze changes in left ventricular myocardial motion in patients with uremia.
PloS oneThe lived experience of adolescents with X-linked hypophosphataemia treated with burosumab at end of skeletal growth: a mixed-methods analysis.
PloS oneFeatures of mobile apps for diabetic kidney disease self-management: A scoping review.
PloS onePatterns of opioid dose escalation in patients with chronic kidney disease initiated on opioids for the treatment of non-cancer pain.
PloS oneA preliminary study on the mechanism of stromal interaction molecule 1 (STIM1) involvement in Adriamycin-induced podocyte injury.
In vitro cellular & developmental biology. AnimalCandidemia Attributed to a Urinary Tract Source: Retrospective Cohort Study of Risk Factors, Clinical Profiles, Therapeutic Approaches and Outcomes.
MycopathologiaDiabetes 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 AssociationChildren 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 AssociationAngiotensin signaling is essential for stress erythropoiesis but causes retention of dysfunctional mitochondria in RBCs.
JCI insightMolecular 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 medicineContemporary Practice of Right Living Donor Nephrectomy in the United States.
Clinical transplantationEpigenetic regulation in a high-sugar environment (Review).
International journal of molecular medicineTargeting pyroptosis in renal fibrosis: From molecular mechanisms to therapeutic horizons (Review).
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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.
- Systemic inflammation, multi-organ injury, and acute kidney risk in psittacosis pneumonia: a biomarker-driven clinical characterization.
- 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
- Investigating PKD2 deficiency-associated cardiomyopathies using hESC-cardiomyocytes and bioengineered 3D ventricular cardiac tissue strips.
- Causal Effects of Renin-Angiotensin-Aldosterone System Inhibition on Renal Function in Patients With Chronic Kidney Disease: A Quasi-Experimental Study.
- Analysis of the trajectory of sleep quality changes and influencing factors in maintenance haemodialysis patients in Xinjiang, China: a prospective longitudinal study.
- Atypical Early Presentation of Multicentric Carpotarsal Osteolysis: Ankle Pain and Cavovarus Deformity Without Osteolysis.
- Regional Anesthesia for Pain Management in Idiopathic Multicentric Osteolysis: A Case Report.
- Gorham-Stout Disease: A Case Report and Review of the Literature.
- Idiopathic multicentric osteolysis: upper extremity manifestations and surgical considerations during childhood.
- Absence of MMP2 mutation in idiopathic multicentric osteolysis with nephropathy.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2774(Orphanet)
- OMIM OMIM:166300(OMIM)
- MONDO:0008152(MONDO)
- GARD:3818(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- 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