Qualquer tipo de osteopetrose grave, uma doença genética que a pessoa só desenvolve se herdar uma cópia do gene alterado do pai e outra da mãe, e que é causada por uma alteração no gene TNFRS11A.
Introdução
O que você precisa saber de cara
Qualquer tipo de osteopetrose grave, uma doença genética que a pessoa só desenvolve se herdar uma cópia do gene alterado do pai e outra da mãe, e que é causada por uma alteração no gene TNFRS11A.
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
+ 11 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 29 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 recessive.
Receptor for TNFSF11/RANKL/TRANCE/OPGL; essential for RANKL-mediated osteoclastogenesis (PubMed:9878548). Its interaction with EEIG1 promotes osteoclastogenesis via facilitating the transcription of NFATC1 and activation of PLCG2 (By similarity). Involved in the regulation of interactions between T-cells and dendritic cells (By similarity)
Cell membraneMembrane raft
Familial expansile osteolysis
Rare autosomal dominant bone disorder characterized by focal areas of increased bone remodeling. The osteolytic lesions develop usually in the long bones during early adulthood. FEO is often associated with early-onset deafness and loss of dentition.
Variantes genéticas (ClinVar)
137 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Osteopetrose - hipogamaglobulinemia
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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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
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Sodium Channel Isoform Diversity Underlies Chamber-Specific Cardiac Excitability.
NaV (voltage-gated sodium) channels drive cardiac excitability. Although NaV1.5 is the primary cardiac isoform, the composition and functional contributions of non-NaV1.5 isoforms in the heart remain unclear. Here, we developed a chemical-genetic mouse model (NaV1.5GX/GX) in which NaV1.5 can be selectively and reversibly inhibited by acyl- and aryl-sulfonamide compounds (GX [acyl- and aryl-sulfonamide compounds typically denoted by the name GX-### and associated items] drugs). Cardiac activity was assessed by electrocardiograms in vivo, and optical mapping was used for imaging of ex vivo hearts. Whole-cell voltage-clamp in tandem with validated toxins and isoform-selective inhibitors were used to examine sodium current composition. NaV1.5GX/GX mice exhibited normal cardiac function at baseline, but acute GX drug administration caused profound conduction defects and arrhythmias. Whole-heart optical mapping revealed dose-dependent chamber-specific sensitivity to NaV1.5 inhibition, with the right ventricle being the most sensitive, followed by the left ventricle, left atrium, and right atrium. Patch-clamp recordings of isolated cardiomyocytes with application of NaV isoform-selective inhibitors showed that NaV1.5 contributed 93% of sodium current in the left ventricle, 79% in the right ventricle, and 78% in the atria. Non-NaV1.5 isoforms were differentially enriched across chambers: NaV1.8 in the left ventricle, NaV1.1/1.3 in the right ventricle, and NaV1.2/1.6/1.7 in the atria. These results reveal a surprising chamber-specific isoform landscape of cardiac sodium currents, which may underlie the right ventricular predominant phenotype of Brugada syndrome. These data highlight non-NaV1.5 isoforms as potential mediators of chamber-specific cardiac pathologies and as pharmacological targets.
The Fontan Outcomes Network: Findings After 2 Years and 1121 Participants.
Survival after Fontan palliation for single ventricle heart disease has improved substantially, yet the long-term trajectory remains poorly defined. The Fontan Outcomes Network, a learning health network of 38 congenital heart centers in the United States and Canada, was established to address this gap. We report baseline characteristics and early findings from the first 1121 participants enrolled in this prospective clinical registry. We performed a cross-sectional analysis of individuals who had undergone Fontan palliation enrolled in the Fontan Outcomes Network from August 2022 through August 2024. Demographic, clinical, imaging, procedural, and medication data were analyzed descriptively, overall and by age group (<12, 12 to <18, and ≥18 years). A total of 1121 participants were enrolled (mean age, 16.3±10.2 years; 471 [42%] female). Hypoplastic left heart syndrome (n=431 [38.5%]) and right ventricular-dominant anatomy (n=615 [54.9%]) were the most common primary cardiac diagnoses, especially in younger age groups. Extracardiac conduit was the most frequent Fontan type (n=749 [66.8%]). Typical Fontan-related adverse events were noted in 59% of cases (n=662), including chylous pleural effusions (n=108 [9.6%]), Fontan thrombosis (n=79 [7.1%]), and nonperioperative stroke (n=73 [6.5%]). A history of arrhythmia was present in 41.3% of patients (n=463) overall, increasing with age. Acquired comorbidities were present in 57.5% of patients (n=645), including asthma (n=132 [12%]) and sleep apnea (n=103 [9%]), with burden increasing by age. Antithrombotic medication use was nearly universal. Use of other medications varied widely by age, and included β-blockers, angiotensin-converting enzyme inhibitors, and pulmonary vasodilators. A clinical diagnosis of an anxiety disorder was present in 34.1% of patients (n=382), including 48.1% of adults (n=194 of 403), and antidepressants were prescribed in 11.8% of patients (n=132), including 23.6% of adults (n=95 of 403), highlighting the mental health needs of this population. The Fontan Outcomes Network includes one of the largest prospective, multi-institutional data sets of patients with Fontan circulation. These initial findings demonstrate the potential for a collaborative learning health network to advance research and quality improvement for this rare disease population.
Pressure-controlled ultrasound is a novel non-invasive technique for detecting anterior chronic exertional compartment syndrome.
Chronic exertional compartment syndrome (CECS) is traditionally confirmed by intracompartmental pressure (ICP) measurement, but this test has been criticised. The aim of this study was to investigate whether leg muscle compartment compressibility using pressure-controlled ultrasound has diagnostic potential in anterior leg compartment CECS (ant-CECS). We hypothesised that, following exercise, patients with ant-CECS would demonstrate lower compartment compressibility and greater compartment thickness compared with controls. Patients with bilateral ant-CECS failing conservative treatment underwent ICP measurements of one leg and compartment compressibility analysis of the contralateral leg before and after a standardised treadmill test. Compartment compressibility was calculated as the relative reduction in distance between a superficial and deep muscle landmark at 10 mm Hg and 80 mm Hg external ultrasound probe pressure. The primary outcome was the difference in compressibility between patients with ant-CECS and healthy controls. Between February 2023 and April 2025, 635 ultrasound measurements were analysed in 36 patients (23 males, age 28 (SD 10 years)) and 35 controls (14 males, age 38 (SD 15 years)). Patients had at least one of three Pedowitz criteria confirming ant-CECS (ICP ≥15 mm Hg at rest, or ≥30 mm Hg or ≥20 mm Hg 1 and 5 min after treadmill, respectively). Compressibility in ant-CECS was lower at rest and at each time point after treadmill testing compared with controls (p<0.01). In males, a 7.8% compressibility cut-off value measured 5 min post-exercise yielded a positive predictive value of 94%. Pressure-controlled ultrasound is a novel non-invasive technique for detecting leg anterior chronic exertional compartment syndrome with promising diagnostic accuracy, particularly in males. NCT05720182.
Case Report: A classical PSGN case with unusually prominent serosal manifestations and complement patterns that mimicked systemic autoimmune disease-highlighting diagnostic pitfalls and biopsy decision-making.
Post-Streptococcal glomerulonephritis (PSGN) most commonly follows streptococcal infections and presents with classic features such as hematuria, proteinuria, hypertension, and transient renal dysfunction. While renal-limited disease is typical, extrarenal manifestations-particularly serosal involvement-are exceptionally rare in children. We report a rare case of an adolescent who presented with nephritic syndrome marked by hypertension, gross hematuria, proteinuria, and notably, concurrent pleural and pericardial effusions. Laboratory evaluation revealed low serum complement levels (C3 and C4), consistent with immune complex-mediated glomerulonephritis. Extensive infectious and autoimmune workups were unremarkable. The patient was managed conservatively with antihypertensives and diuretics, with complete resolution of symptoms and normalization of renal function and complement levels within four weeks. To our knowledge, serosal involvement (pleural and pericardial effusions) at initial presentation in pediatric PSGN remains extremely rare, with very few documented cases in the literature. This report contributes valuable clinical insight, emphasizing that PSGN can occasionally mimic systemic inflammatory or autoimmune conditions. Early identification and conservative management can prevent overtreatment and improve outcomes. This case underscores an unusual presentation of PSGN with serosal involvement-a manifestation reported only sporadically in literature. Recognition of such rare systemic features is crucial to avoid diagnostic delays or unnecessary immunosuppression. Supportive care alone led to favorable outcomes, reinforcing the self-limited nature of PSGN even in atypical presentations. It serves as a valuable reminder that atypical PSGN can present with multi-system inflammation, and a precise diagnostic approach integrating serology and clinical course is essential to avoid unnecessary intervention.
A Tale of Monozygotic Twins With Down Syndrome: Divergent Clinical Paths to Dementia.
Individuals with Down syndrome (DS) have a very high risk for developing Alzheimer's disease (AD) due to the triplication of the amyloid precursor protein gene on chromosome 21. We describe a unique set of female monozygotic twins with Trisomy 21 and mild intellectual disability with significantly discordant rates of cognitive decline. The twins were followed longitudinally, starting at age 42, using cognitive assessments (Down Syndrome Mental Status Examination and Modified Cued Recall). Caregiver assessments included the Dementia Questionnaire for People with Learning Disabilities, National Task Group - Early Detection Screen for Dementia and the Neuropsychiatric Inventory. Blood was collected for AD biomarkers. Performance on baseline cognitive assessments was similar; however, by Timepoint 1, Twin 2 met criteria for mild cognitive impairment (MCI) and by Timepoint 2 met criteria for dementia due to AD. In contrast, Twin 1 remained cognitively stable. Caregiver assessment at baseline showed concerns about Twin 2's social skills, which remained stable across timepoints. AD protein biomarker levels were similar. Discordant cognitive decline could not be explained by clinical co-morbidities, medications, or environment, suggesting that other factors, such as epigenetics, could underlie phenotypic variability and variable risk for AD in DS and deserves further study.
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JMIR research protocolsDifferential Factors Associated With the Presence of Persistent Symptoms in Individuals Diagnosed With Long COVID: Protocol for a Longitudinal Matched Case-Control Study.
JMIR research protocolsResults From the Genetic Information and Family Testing Study: A Cluster-Randomized Trial.
Journal of clinical oncology : official journal of the American Society of Clinical OncologyRisk factor heterogeneity across cardiovascular disease outcomes in treatment-eligible hypertensive patients.
Journal of hypertension2026 Latin American consensus for the management of patients with hypertension and cardio-renal and metabolic disturbances: endorsed by the Latin American Society of Hypertension, the Iberoamerican Hypertension League, and the World Hypertension League.
Journal of hypertensionMRI Assessment of Median Nerve Size in Patients with Proximate Electrodiagnostic Studies.
The Journal of bone and joint surgery. American volumeImpact of Physiotherapy Intervention on Pain, Quality of Life, and Function in Low Back Pain Associated With Piriformis Syndrome: Protocol for Systematic Review.
JMIR research protocolsEfficacy of heparin in respiratory support of near-term rabbits with meconium-induced acute lung injury: Linear regression model analyses.
PloS oneCongenital Corneal Staphyloma in an Asian Infant With Kabuki Syndrome Confirmed by a KMT2D Mutation.
The Journal of craniofacial surgeryCerebral Flow Dysregulation Encephalopathy Following Carotid Stenting Procedure: Multiparametric CT and EEG Characteristics.
The neurologistNeurodevelopmental and Psychiatric Outcomes in Pediatric Nonsyndromic Craniosynostosis: Insights for Plastic Surgery From a Retrospective Risk Analysis.
Annals of plastic surgeryAssociation Between Ionized Calcium Concentrations During Weaning From Cardiopulmonary Bypass and Postoperative Low Cardiac Output Syndrome: A Retrospective Cohort Study.
Anesthesia and analgesiaClinical outcomes of isolated ulnar shortening osteotomy for ulnar impaction syndrome with concomitant distal radioulnar joint instability.
Journal of plastic surgery and hand surgeryA fatal case of Munchausen syndrome by proxy in the father-daughter dyad.
Forensic science, medicine, and pathologyPrevention strategies for hereditary gynaecological cancer in Lynch syndrome.
Familial cancerEarly recognition of atypical hemolytic uremic syndrome to prevent irreversible kidney injury: cardiac failure and refractory hypertension as critical clues in young patients.
CEN case reportsEEG power spectral and microstate analyses in the 22q11.2 deletion syndrome: from genetic risk to schizophrenia.
Journal of neural transmission (Vienna, Austria : 1996)Recurrent pancreatitis and atypical hemolytic uremic syndrome (aHUS): an unusual presentation in childhood.
Pediatric nephrology (Berlin, Germany)Intractable dialysis-associated headache: a management dilemma in pediatric hemodialysis.
Pediatric nephrology (Berlin, Germany)[Noninfectious uveitis in childhood : Clinical aspects, diagnostics, treatment and transition].
Die OphthalmologieAS-OCT findings in Angle closure associated with Unilateral Vogt-Koyanagi-Harada syndrome.
Retina (Philadelphia, Pa.)CHARACTERIZING INTRAOCULAR LENS POSITION, STABILITY, AND IRIS MOBILITY IN EYES THAT HAVE UNDERGONE SUTURELESS INTRASCLERAL HAPTIC FIXATION.
Retina (Philadelphia, Pa.)KCNJ11-associated infantile epileptic spasms syndrome and neonatal diabetes.
Epileptic disorders : international epilepsy journal with videotapeThe de Winter-Wellens Continuum: Evidence of Dynamic Bidirectional Coronary Collateral Flow in Acute Coronary Syndrome.
JACC. Case reportsReversible Complete Atrioventricular Block Due to Rupture of the Left Coronary Aortic Sinus.
JACC. Case reportsColchicine-Responsive Dacron Hypersensitivity After Bentall Procedure: A Rare Trigger of Diffuse Coronary Artery Disease.
JACC. Case reportsPsychological Factors Predict Response to a Low Fermentable Oligo-, di-, Monosaccharide and Polyol Dietary Intervention in Irritable Bowel Syndrome: A Prospective Cohort Study.
United European gastroenterology journalPosterior pericardiotomy in J-shaped ministernotomy.
Multimedia manual of cardiothoracic surgery : MMCTSRecirculation quantified by Trans-ECMO thermodilution to predict mixed venous oxygenation during V-V ECMO: an in vivo porcine study.
AnesthesiologyWhy It Is Wrong to Promote Alpha-Gal Syndrome: A Response to Crutchfield and Hereth.
BioethicsPatient-specific lung simulation incorporating regional elastance and recruitment to guide mechanical ventilation in acute respiratory distress syndrome.
Journal of applied physiology (Bethesda, Md. : 1985)A meta-umbrella review of risk factors for vulvodynia: evidence from demographic, psychosocial, and biomedical domains.
The journal of sexual medicinePolicy Implications of Placebo Bandage for Carpal Tunnel Syndrome.
NEJM evidenceWrist Splinting versus a Placebo Soft Bandage for Carpal Tunnel Syndrome.
NEJM evidenceTrifurcation of the sciatic nerve. Short bifurcation of the common fibular nerve in the high gluteal region: a case study.
Folia morphologicaRenal-Limited Cryofibrinogen-Associated Glomerulonephritis Diagnosed Using Electron Microscopy.
Nephrology (Carlton, Vic.)Clinical Characteristics and Trends of Lymphogranuloma Venereum Versus Non-LGV Chlamydia trachomatis Anorectal Infections: A Six-Year Retrospective Study.
Sexually transmitted diseasesDo Patients with Antiphospholipid Syndrome Present with More Significant Venous Thromboembolic Clot Burden? A Retrospective Single-Center Study.
Hematology reportsInherited Platelet Disorders During Pregnancy and Delivery: Overview of Management Strategies and Emerging Therapeutic Considerations.
Hematology reportsNitroglycerin use in STEMI locations.
JAAPA : official journal of the American Academy of Physician AssistantsCochlear Implantation in Down Syndrome: Functional Outcomes, Challenges, and Management Strategies.
Audiology researchBedside Approach to Acute Vertigo with Spontaneous Horizontal Nystagmus: The Role of Simultaneous Ice-Water Test Stimulation and Its Correlation with the HINTS Protocol in Differentiating Peripheral and Central Etiologies.
Audiology researchAssociações
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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.
- Sodium Channel Isoform Diversity Underlies Chamber-Specific Cardiac Excitability.
- The Fontan Outcomes Network: Findings After 2 Years and 1121 Participants.
- Pressure-controlled ultrasound is a novel non-invasive technique for detecting anterior chronic exertional compartment syndrome.
- Case Report: A classical PSGN case with unusually prominent serosal manifestations and complement patterns that mimicked systemic autoimmune disease-highlighting diagnostic pitfalls and biopsy decision-making.
- A Tale of Monozygotic Twins With Down Syndrome: Divergent Clinical Paths to Dementia.
- Marble brain disease: recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families.
- Pycnodysostosis presenting with bilateral subtrachanteric fractures: case report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:178389(Orphanet)
- OMIM OMIM:612301(OMIM)
- MONDO:0012859(MONDO)
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q32145086(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