Uma doença do sistema urinário caracterizada por defeitos de formação nos rins e/ou nas vias urinárias, que inclui refluxo vesicoureteral.
Introdução
O que você precisa saber de cara
Uma doença do sistema urinário caracterizada por defeitos de formação nos rins e/ou nas vias urinárias, que inclui refluxo vesicoureteral.
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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
+ 6 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 15 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
3 genes identificados com associação a esta condição.
Acts as a positive regulator of ERK phosphorylation downstream of fibroblast growth factor-receptor activation (PubMed:23862974, PubMed:28157540). Involved in the regulation of both caspase-dependent apoptosis and caspase-independent cell death (PubMed:15178406). In the skin, it plays a predominant role in suppressing caspase-dependent apoptosis in response to UV stress in a range of dermal cell types (PubMed:28157540)
CytoplasmCell membraneApical cell membraneBasolateral cell membraneCell junction
Congenital anomalies of the kidney and urinary tract 1
A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children.
Acts as a transcriptional repressor involved in developmental processes of a variety of tissues and organs, including the heart and coronary vessels, the ureter and the vertebral column. Required for embryonic development of the sino atrial node (SAN) head area
Nucleus
Congenital anomalies of kidney and urinary tract 2
A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children.
Modulates transcriptional activation by steroid receptors such as NR3C1, NR3C2 and ESR1. Also modulates transcriptional repression by nuclear hormone receptors. Positive regulator of the circadian clock gene expression: stimulates transcription of BMAL1, CLOCK and CRY1 by acting as a coactivator for RORA and RORC. Involved in the regulation of ovarian function (By similarity). Plays a role in renal development (PubMed:28381549)
Nucleus
Congenital anomalies of kidney and urinary tract 3
A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children. CAKUT3 inheritance is autosomal dominant.
Medicamentos aprovados (FDA)
2 medicamentos encontrados nos registros da FDA americana.
Variantes genéticas (ClinVar)
194 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
7 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 — Malformação renal ou do trato urinário
Centros de Referência SUS
24 centros habilitados pelo SUS para Malformação renal ou do trato urinário
Centros para Malformação renal ou do trato urinário
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Atherosclerosis in chronic kidney disease-early prevention is better than late treatment.
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A resistência ao sunitinibe, um tratamento crucial para o carcinoma de células renais claras (ccRCC), é um desafio significativo. Este estudo revela que a proteína DR5 está elevada em tumores resistentes e pacientes com pior resposta à terapia, promovendo essa resistência ao estabilizar uma via celular específica. Crucialmente, o bloqueio da DR5 e de sua via de sinalização associada (DR5/NF-κB/BCL2) mostrou-se capaz de restaurar a sensibilidade ao sunitinibe, sugerindo uma nova e promissora estratégia terapêutica para superar a resistência em pacientes com ccRCC.
🇧🇷 traduzidoIFI16 is essential to linking DNA damage and ferroptosis in acute kidney injury.
Este estudo revelou que a proteína IFI16 desempenha um papel crucial na lesão renal aguda (LRA), atuando como um elo entre o dano ao DNA e a ferroptose, um tipo de morte celular que contribui para a doença. Foi observado que os níveis de IFI16 estão elevados em pacientes com LRA e que sua inibição reduz significativamente a morte das células renais por ferroptose. Assim, para pacientes e médicos, ter como alvo a IFI16 pode representar uma nova e promissora estratégia terapêutica para tratar a LRA.
🇧🇷 traduzidoSP/NK-1 pathogenic signaling drives doxorubicin nephrotoxicity: Novel therapeutic role of MK-0869 via modulation of α-Klotho, RAS, and Wnt/β-catenin trajectories.
A quimioterapia com doxorrubicina, embora vital, é limitada pela nefrotoxicidade renal severa. Este estudo identifica o MK-0869 como um promissor agente para combater esse dano. Em testes com ratos, o MK-0869 protegeu significativamente contra a lesão renal induzida por doxorrubicina, melhorando a função (com uma redução de 53% na creatinina) e a arquitetura do rim, ao modular vias como α-Klotho, o sistema renina-angiotensina e o estresse oxidativo. Isso sugere que o MK-0869 tem potencial como adjunto renoprotetor na terapia com doxorrubicina, justificando estudos futuros para sua aplicação clínica em pacientes.
🇧🇷 traduzidoThe m5C orchestrator NSUN7 drives SPARC/HMGB1 axis-mediated inflammation to exacerbate kidney injury.
Este estudo identifica a proteína NSUN7 como um importante impulsionador da inflamação renal em doenças como a lesão renal aguda (LRA), agravando-a ao regular modificações de RNA e a proteína SPARC, o que promove a infiltração de células imunes prejudiciais. Pesquisadores demonstraram que o silenciamento terapêutico da NSUN7 em modelos pré-clínicos reduziu a inflamação e melhorou os resultados renais, posicionando-a como um novo e promissor alvo para o desenvolvimento de tratamentos para doenças renais inflamatórias.
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Journal of investigative medicine high impact case reportsReduction of hemorrhagic complications after non-focal renal biopsy with pre-procedure desmopressin administration.
Diagnostic and interventional radiology (Ankara, Turkey)Recovery trajectories of TAFRO syndrome: a single-center case series highlighting prolonged thrombocytopenia and anasarca.
Immunological medicineLUNELORD: A descriptive, prospective study on the demographics, disease characteristics and health-related quality of life of patients with LUpus NEphritis and long-term ORgan damage in rheumatology clinics in the Arabian Gulf.
LupusRenal Nonenhancement From Aortocaval Fistula in Abdominal Aortic Aneurysm.
Korean circulation journalOsteoporosis in chronic kidney disease: diagnostic dilemmas and therapeutic controversies.
Expert review of endocrinology & metabolismAtrial Fibrillation Ablation Outcomes by Hospital Academic Status.
Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & InterventionsFunctional characterization of human organic anion transporter 4 (hOAT4) as a pH-dependent citrate transporter in renal proximal tubules.
Journal of pharmacological sciencesLow fruit and vegetable intake in children: a dietary stressor raising renal ammonium and adrenal cortisol secretion.
Pflugers Archiv : European journal of physiologyComparative pathogenicity of very virulent and novel variant infectious bursal disease virus Egyptian strains in chickens.
Virology journalAn oral nanocombinatorial agent exhibits pleiotropic improvement in diabetic nephropathy via modulation of the SCAP/SREBPs pathway.
Journal of nanobiotechnologyErythrodermic psoriasis complicated by immune complex-mediated crescentic glomerulonephritis and atypical hemolytic uremic syndrome: a case report.
BMC nephrologyEfficacy and safety of peptide radionuclide therapy with 177Lu-DOTATATE in Japanese patients with advanced neuroendocrine neoplasm: a multicenter retrospective study (JON2203-N).
Journal of gastroenterologyEvaluation of Synthetic PES Membranes for Relative Endotoxin Reduction in Dialysis Water.
Water environment research : a research publication of the Water Environment FederationAutoantibodies Targeting Complement Regulating Factors Induced C3 Glomerulopathy Resambling C4 Dense Deposit Disease: A Case Report.
Nephrology (Carlton, Vic.)Emphysematous Pyelonephritis After Embolization of a Nonfunctioning Kidney Graft.
Nephrology (Carlton, Vic.)Optimization of Ionic Matrix Deposition to Increase the Performance of MALDI-Based Spatial N-Glycomics.
Journal of mass spectrometry : JMSA double-blind, randomized, placebo-controlled, phase 2 trial examined the efficacy and safety of monlunabant in adults with diabetic kidney disease.
Kidney internationalCancer Therapy and the Kidney.
Kidney internationalUnique aspects of the acute kidney injury associated with infections in the tropics: presentation, challenges and opportunities.
Kidney internationalFrailty is associated with increased risk for upper arm arteriovenous fistula abandonment.
Journal of vascular surgeryA Comparison of Elective Late Open Surgical Conversion after EVAR versus Primary Open Repair for Abdominal Aortic Aneurysm in a Single High-Volume Center.
Journal of vascular surgeryIntraventricular metastasis: A systematic review of patient demographics, clinical characteristics, and outcomes.
Neuro-ChirurgiePaid Employment and Ability to Work Among People Receiving Dialysis: A Systematic Review of Qualitative Studies.
American journal of kidney diseases : the official journal of the National Kidney FoundationDialysis 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 FoundationMedicaid Expansion and Optimal Starts of Treatment for Incident Kidney Failure.
American journal of kidney diseases : the official journal of the National Kidney FoundationIs There a Role for Pentoxifylline in Diabetic Kidney Disease?
American journal of kidney diseases : the official journal of the National Kidney FoundationNatural History of Tricuspid Regurgitation Following Transcatheter-Edge-to - Edge Repair; Insights from Clinical Trials and Multi-Center Registries.
The Canadian journal of cardiologyZFP36 and CEBPA are macrophage-associated prognostic biomarkers linked to glomerular endothelial inflammation in ANCA-associated glomerulonephritis.
Experimental cell researchThe Impact of Re-operation on Aortic Arch Reconstructive Surgery: Evidence from a Multicentre, National Registry.
The Journal of thoracic and cardiovascular surgeryCorticosteroids for Treating Sepsis: A Systematic Review and Network Meta-analysis.
Respiratory medicineSocioeconomic deprivation and post-discharge mortality in heart failure: evidence from a nationwide universal health coverage system.
European heart journal. Quality of care & clinical outcomesSLAMF1 at the crossroads of immunity and disease: Biology, pathology, and therapeutic opportunities.
CytokineAsiaticoside attenuates renal fibrosis by targeting STAT3 to restore Th17/Treg homeostasis.
Phytomedicine : international journal of phytotherapy and phytopharmacologySalvia miltiorrhiza extract attenuates cardiorenal syndrome by inhibiting IL-1β mediated cross-talk between heart and kidney.
Phytomedicine : international journal of phytotherapy and phytopharmacologyLack of effect of short-term interval training on kidney function in obese adolescent females.
Clinics (Sao Paulo, Brazil)Pomiferin protects against sepsis-associated acute liver and kidney injury via inhibition of NF-κB activation, oxidative stress, and cytochrome-c.
Scientific reportsUrine microscopy can identify cholemic nephropathy as a distinct form of kidney dysfunction in patients with acute on chronic liver failure.
Scientific reportsBeyond glomeruli: interstitial fibrosis and tubular atrophy predict poor renal outcomes in lupus nephritis.
Arthritis research & therapyContinuous monitoring of intra-abdominal pressure: cumulative pressure exposure predicts early acute kidney injury in animal model.
World journal of emergency surgery : WJESA Standardized workflow for Orthohantavirus production, detection, and antiviral screening.
Virology journalA diagnostic challenge: right-sided infective endocarditis presenting as isolated fatigue in a psychiatric patient.
International journal of emergency medicineAn interpretable machine learning model based on habitat radiomics combined with deep learning for predicting the WHO/ISUP grade of patients with clear cell renal cell carcinoma.
BMC medical imagingPrevalence and determinants of urinary tract infection among Ethiopian children: a systematic review and meta-analysis of institution-based studies.
BMC infectious diseasesNon-diabetic kidney disease in a patient with type 2 diabetes mellitus: a case report.
BMC nephrologyExperiences of hemodialysis in patients with end-stage renal disease: a patient journey map based on a qualitative study.
BMC nephrologyHeart failure as a leading independent predictor for mortality and adverse outcomes after bariatric surgery: analysis using the 2023-2024 MBSAQIP database.
Surgery for obesity and related diseases : official journal of the American Society for Bariatric SurgeryRedo partial or radical nephrectomy for solitary renal recurrence after previous nephron-sparing surgery: Is functional preservation always justified?
Urologic oncologyMonogenic and Polygenic Risk for Kidney Cancer in Two Large Biobanks.
European urology oncologyPrevention of urinary stones with hydration: a randomised clinical trial of an adherence intervention.
Lancet (London, England)Angiography-derived fractional flow reserve versus coronary angiography to guide coronary artery bypass grafting in patients undergoing surgical valve procedures with concomitant coronary artery disease in China (FAVOR IV-QVAS): a multicentre, triple-blind, randomised trial.
Lancet (London, England)ALDH1A1 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 internationalA Young Man With Nephrotic Syndrome and Facial Rash: A Quiz.
American journal of kidney diseases : the official journal of the National Kidney FoundationBeyond the Individual: Toward a Family-Centered Understanding of Dialysis Caregiving.
American journal of kidney diseases : the official journal of the National Kidney FoundationImpact of Post-Transplant Cyclophosphamide on the Prognostic Value of HCT-CI.
Transplantation and cellular therapyAA amyloidosis in inflammatory joint diseases in the era of biological therapies: prevalence, manifestations, management and evolution.
Joint bone spineAndrogen receptor-NOX4-necroptosis axis drives male-biased susceptibility in aristolochic acid-induced acute kidney injury.
Chemico-biological interactionsMediterranean diet preserves renal mitochondrial homeostasis and attenuates early diabetic kidney injury in db/db mice.
Experimental gerontologyPopulation Pharmacokinetics and Dosing Regimen Optimization of Ceftazidime in Plasma and Cerebrospinal Fluid of Neonatal Sepsis Patients.
International journal of antimicrobial agentsSafety and efficacy of direct versus conventional transfer to angiography suite in patients with severe acute stroke treated with thrombectomy (DIRECT ANGIO) in France: a multicentre, open-label, blinded-endpoint, randomised controlled trial.
The Lancet. NeurologyCell death in kidney transplantation: Mechanisms and therapeutic perspectives.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieEndothelial SMAD1-MCAM axis facilitates sunitinib resistance and progression of clear cell renal cell carcinoma via LAMB1-ITGB1 signaling.
Drug resistance updates : reviews and commentaries in antimicrobial and anticancer chemotherapyUrinary 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 immunopharmacologyEfficacy of thiamine (vitamin B1) in sepsis and septic shock: A meta-analysis of randomized controlled trials.
Clinics (Sao Paulo, Brazil)Post-marketing safety evaluation of the live-attenuated chikungunya vaccine (IXCHIQ).
VaccineLevels of serum electrolytes and trace elements in dogs with kidney failure undergoing hemodialysis: A sequential analysis.
Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS)Impact of uremia on platelet contribution to clot strength assessed with rotational thromboelastometry: A retrospective cohort study in septic patients.
Thrombosis 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.
- Atherosclerosis in chronic kidney disease-early prevention is better than late treatment.
- DR5/WDR12 balances p65 stability promoting sunitinib resistance in renal cell carcinoma.
- IFI16 is essential to linking DNA damage and ferroptosis in acute kidney injury.
- SP/NK-1 pathogenic signaling drives doxorubicin nephrotoxicity: Novel therapeutic role of MK-0869 via modulation of α-Klotho, RAS, and Wnt/β-catenin trajectories.
- 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· PMID 41871257mais citado
- Hematuria as a biomarker guiding treatment decisions in IgA nephropathy? no.
- Nutritional paradoxes of the new Dietary Guidelines for Americans (2025-2030): a critical analysis.
- ENDOTHELIUM-DERIVED ENDOTHELIN-1 MEDIATES SICKLE CELL NEPHROPATHY.
- Microhardness Variation in Calcium Oxalate Monohydrate Stones: A Potential Explanation for Fragment Formation During Laser Dusting.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:93545(Orphanet)
- MONDO:0019719(MONDO)
- GARD:19216(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Q30899323(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
