Hipertensão arterial é uma doença crónica em que a pressão sanguínea nas artérias se encontra constantemente elevada. A doença geralmente não causa sintomas. No entanto, a longo prazo é um dos principais fatores de risco para uma série de doenças graves como a doença arterial coronária, acidente vascular cerebral, insuficiência cardíaca, doença arterial periférica, incapacidade visual, doença renal crónica e demência.
Introdução
O que você precisa saber de cara
Doença renal crônica autossômica dominante, caracterizada por hipertensão, proteinúria e hematúria microscópica, com início na idade adulta. Leva à insuficiência renal progressiva, com elevação da creatinina e, frequentemente, à doença renal em estágio 5.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 10 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
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 — Nefropatia progressiva com hipertensão autossômica dominante
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
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
The Hidden Iceberg of ADPKD: Early Organomegaly-Driven Malnutrition and Sarcopenia Beyond Preserved eGFR.
Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent monogenic kidney disease (≈4 cases per 10.000 inhabitants) and a major cause of end-stage kidney disease (ESKD). Beyond progressive cystic enlargement of the kidneys and frequent extrarenal involvement, adults with ADPKD often exhibit a distinctive "body phenotype" with central adiposity and marked abdominal distension due to renal and hepatic organomegaly. In this setting, conventional anthropometric indices such as body mass index (BMI) and crude body weight are of limited value, as they cannot distinguish nutritional tissues (muscle, subcutaneous fat) from non-nutritional mass (cyst fluid, fibrotic tissue, or expanded extracellular water). This review summarizes the current evidence on malnutrition and sarcopenia in adult ADPKD, with a focus on the impact of organomegaly and adiposity. Cross-sectional work using the modified Subjective Global Assessment (SGA) has shown that approximately one-third of ambulatory ADPKD patients are at risk of becoming, or have become, malnourished, and that height-adjusted total kidney and liver volume (htTKLV) is the strongest clinical predictor of malnutrition, whereas eGFR plays a secondary role. Bioelectrical impedance analysis (BIA) further demonstrates a disease-specific body composition phenotype, with increased total and extracellular body water, particularly in the trunk, a reduced phase angle and reduced lean mass, consistent with early malnutrition and sarcopenia. These alterations are present even at relatively preserved kidney function and, in matched analyses, distinguish ADPKD from non-ADPKD CKD. Prospective data from a multicenter cohort indicate that the baseline SGA-defined nutritional status independently predicts short-term eGFR decline in typical ADPKD, supporting malnutrition as a potential modifier of renal trajectory rather than a mere correlate of advanced disease. In parallel, narrative syntheses on adiposity highlight that a higher BMI, waist circumference and visceral fat are associated with larger total kidney volume, faster eGFR loss and greater symptom burden, and raise concern for a sarcopenic obesity phenotype in which excess fat and cystic mass coexist with low muscle mass. Collectively, these findings support a pathophysiological model in which organomegaly-driven mechanical effects (early satiety, gastrointestinal discomfort), systemic inflammation, insulin resistance and cyst-related metabolic reprogramming converge to produce "hidden malnutrition" in ADPKD, masked by apparent overweight. From a clinical perspective, malnutrition and sarcopenia should be regarded as central, disease-modifying components of the ADPKD phenotype. Routine nutritional screening (e.g., SGA/PG-SGA) and BIA-based body composition assessment, particularly in patients with severe organomegaly or symptomatic polycystic liver disease, should be integrated into ADPKD care pathways, and individualized, muscle-preserving nutritional strategies should be tested in future prospective studies.
2025 KDIGO Executive Summary: Diagnosis and Management of Pediatric Autosomal Dominant Polycystic Kidney Disease.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder, affecting 1 in 400 to 1,000 people worldwide. These significant care requirements reflect the importance of early diagnosis and prevention for affected patients and the need for evidence-based guidelines for treatment protocols and best practice measures. The 2025 KDIGO guidelines build on earlier frameworks such as the 2019 International consensus statement on the diagnosis and management of ADPKD in children and young people to improve screening, monitoring, and treatment methodology for pediatric ADPKD patients. Young and adolescent patients face unique challenges to care from detection of asymptomatic disease progression to early-onset hypertension, alongside stress faced by caregivers and families. This executive summary synthesizes the updated 2025 KDIGO recommendations and supporting evidence to outline new advancements and provide a practical approach for pediatric nephrologists to support improved treatment and transition into adulthood.
Unravelling sex-specific differences in autosomal dominant polycystic kidney disease: a multiorgan perspective.
Autosomal dominant polycystic kidney disease (ADPKD) is a complex, multisystemic disorder exhibiting notable sex-related differences in clinical presentation, progression and complications. While the disease affects both sexes, disease expression and complications differ significantly between men and women. This review explores the biological, hormonal and psychosocial sex differences in ADPKD across multiple clinical domains. Men tend to experience faster kidney growth, earlier onset of hypertension and slightly younger age at kidney replacement therapy. Women, in contrast, are more susceptible to polycystic liver disease (PLD), often exacerbated by oestrogen exposure, especially during pregnancy or hormonal treatments. Although urinary tract infections are more prevalent among women, cyst infections show no major sex-based difference in incidence, although men may respond less favourably to antibiotic therapy. Cardiovascular complications, intracranial aneurysms and reproductive health risks also show sex-related patterns. Fertility and reproductive counselling must be individualized, as reproductive challenges and risks differ markedly between men and women. Pregnancy in women with ADPKD, especially those with reduced renal function or PLD, carries increased risks and requires specialized care. Fertility in men with ADPKD is usually preserved, although sometimes it may be impaired due to seminal vesicle cysts and sperm morphological abnormalities. However, assisted reproductive techniques generally achieve outcomes comparable to those of unaffected individuals. Psychosocial aspects such as pain, emotional burden and quality of life are also influenced by sex and require integrated management strategies. While tolvaptan slows disease progression in both sexes, pharmacodynamic responses may differ slightly. Incorporating sex-specific insights into ADPKD care, including hormonal and reproductive considerations, is critical to advancing personalized medicine. Understanding these differences will optimize management and improve quality of life for individuals living with ADPKD.
Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.
Nail-patella syndrome (NPS) is an uncommon autosomal dominant condition marked by nail dysplasia, skeletal abnormalities, and variable renal manifestations, resulting from mutations in the LMX1B gene. We report a rare case of a 23-year-old male presenting with nephrotic-range proteinuria, characteristic skeletal manifestations of NPS, and a family history of renal failure. Genetic testing identified a previously unreported heterozygous missense variant in the homeodomain of LMX1B (c.791A>C; p.Gln264Pro), supporting its pathogenicity. The absence of patellar hypoplasia in our patient highlights the phenotypic variability of NPS. This case reinforces the importance of detailed physical examination and targeted genetic testing in diagnosing nephrotic syndromes.
Tuberous sclerosis complex with multisystem involvement: A case report.
Tuberous sclerosis complex is a rare, autosomal dominant disorder caused by pathogenic variants in the tuberous sclerosis complex 1 or tuberous sclerosis complex 2 genes, leading to constitutive activation of the mammalian target of rapamycin pathway and abnormal cell growth. Tuberous sclerosis complex is characterized by benign hamartomas affecting multiple organs, most commonly the brain, skin, kidneys, heart, and lungs. Clinical manifestations vary depending on the organs involved and disease severity. We report the case of a Chinese woman in her mid-30s who presented with progressive dyspnea. Her medical history included hypertension, intellectual disability, seizures, left nephron-sparing enucleation for renal angiomyolipoma, and hysterectomy for uterine smooth muscle tumors. Physical examination revealed classic features of tuberous sclerosis complex, including facial angiofibromas and periungual fibromas. Imaging demonstrated a right-sided pleural effusion. Thoracoabdominal imaging showed pulmonary lymphangioleiomyomatosis and bilateral renal angiomyolipomas with hemorrhage. Genetic testing identified three pathogenic variants in the tuberous sclerosis complex 2 gene. A multidisciplinary team confirmed the diagnosis of tuberous sclerosis complex with multisystem involvement. This case highlights the multisystem heterogeneity of tuberous sclerosis complex and underscores the importance of an interdisciplinary approach to diagnosis and management.
Publicações recentes
An unusual presentation of UMOD-associated autosomal dominant tubulointerstitial kidney disease in a pediatric patient.
Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers.
Autosomal Dominant Polycystic Kidney Disease: A Review.
Characteristics of patients with autosomal polycystic kidney disease reaching kidney failure by age 40.
Vascular Dysfunction in Polycystic Kidney Disease: A Mini-Review.
📚 EuropePMCmostrando 199
Unravelling sex-specific differences in autosomal dominant polycystic kidney disease: a multiorgan perspective.
Clinical kidney journalHorns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.
Clinical nephrology. Case studiesThe Hidden Iceberg of ADPKD: Early Organomegaly-Driven Malnutrition and Sarcopenia Beyond Preserved eGFR.
International journal of molecular sciences[Glomerulopathy with fibronectin deposits caused by FN1 gene mutation: A familial case report and literature review].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesTuberous sclerosis complex with multisystem involvement: A case report.
The Journal of international medical researchVascular transcriptional and metabolic changes precede progressive intrarenal microvascular rarefaction in autosomal dominant polycystic kidney disease.
American journal of physiology. Renal physiologyThe many faces of cholesterol in autosomal dominant polycystic kidney disease.
Kidney international2025 KDIGO Executive Summary: Diagnosis and Management of Pediatric Autosomal Dominant Polycystic Kidney Disease.
Kidney & blood pressure researchLoss of Snhg5 disrupts cell-cycle regulation without altering cystogenesis in a mouse model of polycystic kidney disease.
Scientific reportsExploring the Role of Plant-Based Nutrition in Polycystic Kidney Disease.
NutrientsFrom RAAS blockade to regenerative medicine: evolving treatment strategies in Alport syndrome.
Pediatric nephrology (Berlin, Germany)An unusual presentation of UMOD-associated autosomal dominant tubulointerstitial kidney disease in a pediatric patient.
Pediatric nephrology (Berlin, Germany)Contemporary management of advanced chronic kidney disease: An evidence-based review.
European journal of internal medicineA randomized controlled trial evaluated the effect of pravastatin on kidney disease outcomes in adult patients with early-stage autosomal dominant polycystic kidney disease.
Kidney internationalAn Elusive Diagnosis of Autosomal Dominant Alport Syndrome: Genomic Sequencing Is a Game Changer.
CureusCardiovascular Complications in ADPKD.
Kidney international reportsAutosomal Dominant Polycystic Kidney Disease: Core Curriculum 2025.
American journal of kidney diseases : the official journal of the National Kidney FoundationIn vivo base editing reduces liver cysts in autosomal dominant polycystic kidney disease.
Molecular therapy : the journal of the American Society of Gene TherapyRenal tissue-resident macrophages promote cystogenesis in early polycystic kidney disease.
Journal of cell scienceTherapies in autosomal dominant polycystic kidney disease: beyond tolvaptan.
Current opinion in nephrology and hypertensionReal-World Safety and Effectiveness of Vadadustat in Patients with Chronic Kidney Disease-Related Anemia: Interim Analysis of Postmarketing Surveillance in Japan.
Advances in therapyPatients With Mild ADPKD by Kidney Imaging but Low Estimated GFR.
Kidney international reportsPain Management in Autosomal Dominant Polycystic Kidney Disease: Clinical Challenges and a Stepwise Algorithmic Approach.
Kidney360Metabolomic profiling of renal cyst fluid in advanced ADPKD: insights from dialysis and transplantation cohorts.
Metabolomics : Official journal of the Metabolomic SocietyCan GLP-1 receptor agonists slow the progression of Autosomal Dominant Polycystic Kidney Disease?
BMC nephrologyThe Gut Microbiome in Autosomal Dominant Polycystic Kidney Disease: A Cross-Sectional Study.
Kidney360Association Between Body Mass Index and Age at End-Stage Renal Disease in Patients With Autosomal Dominant Polycystic Kidney Disease in the United States and Japan.
Mayo Clinic proceedingsChanges in Protein Expression of Renal Drug Transporters and Drug-Metabolizing Enzymes in Autosomal Dominant Polycystic Kidney Disease Patients.
Clinical pharmacology and therapeuticsIntracranial Aneurysms in Autosomal Dominant Polycystic Kidney Disease: A Practical Approach to Screening and Management.
Mayo Clinic proceedingsGLPG2737, a CFTR Inhibitor, Prevents Cyst Growth in Preclinical Models of Autosomal Dominant Polycystic Kidney Disease.
American journal of nephrologyHypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers.
HGG advancesAutosomal dominant polycystic kidney disease: an overview of recent genetic and clinical advances.
Renal failureTime-restricted eating and autosomal dominant polycystic kidney disease: a pilot, randomized clinical trial.
Clinical kidney journalTherapeutic potential of urinary extracellular vesicles in delivering functional proteins and modulating gene expression for genetic kidney disease.
BiomaterialsGANAB-Associated Severe Autosomal Dominant Polycystic Kidney Disease in an 18-Year-Old Female: A Case Report.
CureusAutosomal Dominant Polycystic Kidney Disease: A Review.
JAMAPolycystic Kidney Disease in Children: The Current Status and the Next Horizon.
American journal of kidney diseases : the official journal of the National Kidney FoundationLong-term tolvaptan therapy in a case of very early-onset polycystic kidney disease.
Pediatric nephrology (Berlin, Germany)Overweight Status, Obesity, and Progression to ESKD in Patients with Autosomal Dominant Polycystic Kidney Disease.
Clinical journal of the American Society of Nephrology : CJASNExpanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience.
Renal failureCharacteristics of patients with autosomal polycystic kidney disease reaching kidney failure by age 40.
Pediatric nephrology (Berlin, Germany)The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.
Journal of nephrologyTypical Clinical Presentation of an Autosomal Dominant Polycystic Kidney Disease Patient with an Atypical Genetic Pattern.
GenesKDIGO 2025 clinical practice guideline for the evaluation, management, and treatment of autosomal dominant polycystic kidney disease (ADPKD): executive summary.
Kidney internationalGut microbiota and kidney function in autosomal dominant polycystic kidney disease participants in Cameroon: a cross-sectional study.
BMC nephrologyKidney Stone Disease and Progression Risk in Autosomal Dominant Polycystic Kidney Disease: A Post Hoc Analysis of OVERTURE.
Kidney360Empagliflozin in patients with autosomal dominant polycystic kidney disease (EMPA-PKD): study protocol for a randomised controlled trial.
BMJ openMitral Valve Prolapse in a Patient With Polycystic Kidney Disease.
CureusMay-Hegglin anomaly associated nephropathy: Case series.
SAGE open medical case reportsNew Mutation Associated with Polycystic Kidney Disease Type I: A Case Report.
GenesKidney and vascular involvement in Alagille syndrome.
Pediatric nephrology (Berlin, Germany)Treatment of Autosomal-Dominant Polycystic Kidney Disease.
American journal of kidney diseases : the official journal of the National Kidney FoundationTrigger Warning: How Modern Diet, Lifestyle, and Environment Pull the Trigger on Autosomal Dominant Polycystic Kidney Disease Progression.
NutrientsInterventions for preventing the progression of autosomal dominant polycystic kidney disease.
The Cochrane database of systematic reviewsSystematic Screening of Autosomal Dominant Tubulointerstitial Kidney Disease- MUC1 27dupC Pathogenic Variant through Exome Sequencing.
Journal of the American Society of Nephrology : JASNOsteopontin deletion attenuates cyst growth but exacerbates fibrosis in mice with cystic kidney disease.
Physiological reportsData driven approach to characterize rapid decline in autosomal dominant polycystic kidney disease.
PloS oneAutosomal dominant polycystic kidney disease (ADPKD) with multiple complications: Management challenges.
Narra JThe utility of serum neutrophil gelatinase-associated lipocalin level on predicting autosomal dominant polycystic kidney disease progression.
Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis TherapyProtocol for the nationwide registry of patients with polycystic kidney disease: japanese national registry of PKD (JRP).
Clinical and experimental nephrologyMeasured and Estimated Glomerular Filtration Rate to Evaluate Rapid Progression and Changes over Time in Autosomal Polycystic Kidney Disease: Potential Impact on Therapeutic Decision-Making.
International journal of molecular sciencesAn Electronic Health Record-Integrated Application for Standardizing Care and Monitoring Patients With Autosomal Dominant Polycystic Kidney Disease Enrolled in a Tolvaptan Clinic: Design and Implementation Study.
JMIR medical informaticsGrainyhead-like 2 Deficiency and Kidney Cyst Growth in a Mouse Model.
Journal of the American Society of Nephrology : JASNThe screening, diagnosis, and management of patients with autosomal dominant polycystic kidney disease: A national consensus statement from Taiwan.
Nephrology (Carlton, Vic.)Kidney Disease and Proteomics: A Recent Overview of a Useful Tool for Improving Early Diagnosis.
Advances in experimental medicine and biologyGlobal analysis of urinary extracellular vesicle small RNAs in autosomal dominant polycystic kidney disease.
The journal of gene medicineDNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort.
GenesCombining genotype with height-adjusted kidney length predicts rapid progression of ADPKD.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationPKD1 Truncating Mutations Accelerate eGFR Decline in Autosomal Dominant Polycystic Kidney Disease Patients.
American journal of nephrologyDKK3 as a potential novel biomarker in patients with autosomal polycystic kidney disease.
Clinical kidney journalStatin therapy in patients with early-stage autosomal dominant polycystic kidney disease: Design and baseline characteristics.
Contemporary clinical trialsAssessing the Risk of Progression to Kidney Failure in Patients With Autosomal Dominant Polycystic Kidney Disease.
Advances in kidney disease and healthGenetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes.
Advances in kidney disease and healthPregnancy in Autosomal Dominant Polycystic Kidney Disease.
Advances in kidney disease and healthTwo sides of the same coin: a complex presentation of autosomal dominant tubulointerstitial kidney diseases: a literature review and case reports.
Frontiers in pediatricsCystic Kidney Diseases in Children and Adults: Differences and Gaps in Clinical Management.
Seminars in nephrologyClinical findings, underlying pathogenetic processes and treatment of vascular dysfunction in autosomal dominant polycystic kidney disease.
Renal failurePrevalence of pericardial effusion in autosomal dominant polycystic kidney disease.
Clinical kidney journalPolycystic Kidney Disease Diet: What is Known and What is Safe.
Clinical journal of the American Society of Nephrology : CJASNPharmacological Nephroprotection in Non-Diabetic Chronic Kidney Disease-Clinical Practice Position Statement of the Polish Society of Nephrology.
Journal of clinical medicineVascular Dysfunction in Polycystic Kidney Disease: A Mini-Review.
Journal of vascular researchClinical Quality Control of MRI Total Kidney Volume Measurements in Autosomal Dominant Polycystic Kidney Disease.
Tomography (Ann Arbor, Mich.)Immune checkpoint activity regulates polycystic kidney disease progression.
JCI insightHypoxia controls expression of kidney-pathogenic MUC1 variants.
Life science allianceUrinary Biomarkers in Monitoring the Progression and Treatment of Autosomal Dominant Polycystic Kidney Disease-The Promised Land?
Medicina (Kaunas, Lithuania)Unusual Cause of Thrombocytopenia and Renal Failure in a 14-Year-Old Boy (MYH9-Associated Disorders).
Case reports in nephrology and dialysisProgression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.
Hepatology (Baltimore, Md.)OVERTURE: A Worldwide, Prospective, Observational Study of Disease Characteristics in Patients With ADPKD.
Kidney international reportsThe safety and efficacy of tolvaptan in the treatment of patients with autosomal dominant polycystic kidney disease: A systematic review and meta-analysis.
NefrologiaSeverity of polycystic kidney disease revealed by multiparametric MRI.
Magnetic resonance in medicineBiomarkers in Polycystic Kidney Disease: Are We There?
Advances in kidney disease and healthDrug Development in Autosomal Dominant Polycystic Kidney Disease: Opportunities and Challenges.
Advances in kidney disease and healthAutosomal Dominant Polycystic Kidney Disease in Children and Adolescents: Assessing and Managing Risk of Progression.
Advances in kidney disease and healthNonpharmacological Management of Autosomal Dominant Polycystic Kidney Disease.
Advances in kidney disease and healthParasympathetic activity and total fibrotic kidney in autosomal-dominant polycystic kidney disease patients: a pilot study.
International urology and nephrologyProbenecid slows disease progression in a murine model of autosomal dominant polycystic kidney disease.
Physiological reportsDrug repurposing in autosomal dominant polycystic kidney disease.
Kidney internationalElevated checkpoint inhibitor expression and Treg cell number in autosomal dominant polycystic kidney disease and their correlation with disease parameters and hypertension.
Clinical and experimental medicineDevelopment of gene silencer pyrrole-imidazole polyamides targeting GSK3β for treatment of polycystic kidney diseases.
Journal of pharmacological sciencesRisk Severity Model for Pediatric Autosomal Dominant Polycystic Kidney Disease Using 3D Ultrasound Volumetry.
Clinical journal of the American Society of Nephrology : CJASNAccuracy and processing time of kidney volume measurement methods in rodents polycystic kidney disease models: superiority of semiautomated kidney segmentation.
American journal of physiology. Renal physiologyDesign of two ongoing clinical trials of tolvaptan in the treatment of pediatric patients with autosomal recessive polycystic kidney disease.
BMC nephrologyUtility of new image-derived biomarkers for autosomal dominant polycystic kidney disease prognosis using automated instance cyst segmentation.
Kidney internationalTolvaptan for Children and Adolescents with Autosomal Dominant Polycystic Kidney Disease: Randomized Controlled Trial.
Clinical journal of the American Society of Nephrology : CJASNRenal Cell Carcinoma in End-Stage Renal Disease: A Retrospective Study in Patients from Hungary.
Pathobiology : journal of immunopathology, molecular and cellular biologyThe Clinical and Mutational Spectrum of 69 Turkish Children with Autosomal Recessive or Autosomal Dominant Polycystic Kidney Disease: A Multicenter Retrospective Cohort Study.
NephronVenglustat, a Novel Glucosylceramide Synthase Inhibitor, in Patients at Risk of Rapidly Progressing ADPKD: Primary Results of a Double-Blind, Placebo-Controlled, Phase 2/3 Randomized Clinical Trial.
American journal of kidney diseases : the official journal of the National Kidney FoundationThe role of urinary supersaturations for lithogenic salts in the progression of autosomal dominant polycystic kidney disease.
Journal of nephrologyClinical characteristics and risk factors for kidney failure in patients with autosomal dominant polycystic kidney disease: A retrospective study.
MedicineCystic kidney disease in tuberous sclerosis complex: current knowledge and unresolved questions.
Pediatric nephrology (Berlin, Germany)The tryptophan-metabolizing enzyme indoleamine 2,3-dioxygenase 1 regulates polycystic kidney disease progression.
JCI insightConsensus document on autosomal dominant polycystic kindey disease from the Spanish Working Group on Inherited Kindey Diseases. Review 2020.
NefrologiaImpact of kidney function and kidney volume on intracranial aneurysms in patients with autosomal dominant polycystic kidney disease.
Scientific reportsInvolvement of ceramide biosynthesis in increased extracellular vesicle release in Pkd1 knock out cells.
Frontiers in endocrinologyEmerging therapies for autosomal dominant polycystic kidney disease with a focus on cAMP signaling.
Frontiers in molecular biosciencesCardiovascular Outcomes in Kidney Transplant Recipients With ADPKD.
Kidney international reportsDelay in funding of tolvaptan for polycystic kidney disease in Aotearoa New Zealand.
The New Zealand medical journalAn intermediate-effect size variant in UMOD confers risk for chronic kidney disease.
Proceedings of the National Academy of Sciences of the United States of AmericaMonoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
American journal of human geneticsA 3D In Vivo Model for Studying Human Renal Cystic Tissue and Mouse Kidney Slices.
CellsKynurenines in polycystic kidney disease.
Journal of nephrologyA child with genetic FN1 mutation in the absence of classic glomerulopathy with fibronectin deposits(GFND) findings on biopsy.
BMC nephrologyEvaluation of Suspected Autosomal Alport Syndrome Synonymous Variants.
Kidney360Asymptomatic Pyuria as a Prognostic Biomarker in Autosomal Dominant Polycystic Kidney Disease.
Kidney360Comparative analysis of tools to predict rapid progression in autosomal dominant polycystic kidney disease.
Clinical kidney journalAutomated measurement of total kidney volume from 3D ultrasound images of patients affected by polycystic kidney disease and comparison to MR measurements.
Abdominal radiology (New York)[Reduced oxidative stress in ADPKD patients treated with tolvaptan].
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologiaEstimated GFR in autosomal dominant polycystic kidney disease: errors of an unpredictable method.
Journal of nephrologyManagement of autosomal dominant polycystic kidney disease in the era of disease-modifying treatment options.
Kidney research and clinical practiceObesity, Weight Loss, Lifestyle Interventions, and Autosomal Dominant Polycystic Kidney Disease.
Kidney and dialysisEffects of Hydrochlorothiazide and Metformin on Aquaresis and Nephroprotection by a Vasopressin V2 Receptor Antagonist in ADPKD: A Randomized Crossover Trial.
Clinical journal of the American Society of Nephrology : CJASNEndocannabinoid System in Polycystic Kidney Disease.
American journal of nephrologyProtein Kinase A Downregulation Delays the Development and Progression of Polycystic Kidney Disease.
Journal of the American Society of Nephrology : JASNVolume Progression and Imaging Classification of Polycystic Liver in Early Autosomal Dominant Polycystic Kidney Disease.
Clinical journal of the American Society of Nephrology : CJASNWeight loss and cystic disease progression in autosomal dominant polycystic kidney disease.
iScienceMetabolic reprogramming in a slowly developing orthologous model of polycystic kidney disease.
American journal of physiology. Renal physiologyGeneration of heterozygous PKD1 mutant pigs exhibiting early-onset renal cyst formation.
Laboratory investigation; a journal of technical methods and pathologyWater - A life-giving toxin - A nephrological oxymoron. Health consequences of water and sodium balance disorders. A review article.
Advances in medical sciencesCurcumin Therapy to Treat Vascular Dysfunction in Children and Young Adults with ADPKD: A Randomized Controlled Trial.
Clinical journal of the American Society of Nephrology : CJASNMonoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
American journal of human geneticsMetformin improves relevant disease parameters in an autosomal dominant polycystic kidney disease mouse model.
American journal of physiology. Renal physiologySemi-Automated 3D Volumetric Renal Measurements in Polycystic Kidney Disease Using b0-Images-A Feasibility Study.
Tomography (Ann Arbor, Mich.)Family History is Important to Identify Patients with Monogenic Causes of Adult-Onset Chronic Kidney Disease.
NephronPre-clinical evaluation of dual targeting of the GPCRs CaSR and V2R as therapeutic strategy for autosomal dominant polycystic kidney disease.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyThe chloride channel CFTR is not required for cyst growth in an ADPKD mouse model.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyMetformin Therapy in Autosomal Dominant Polycystic Kidney Disease: A Feasibility Study.
American journal of kidney diseases : the official journal of the National Kidney FoundationCoregulation Analysis of Mechanistic Biomarkers in Autosomal Dominant Polycystic Kidney Disease.
International journal of molecular sciencesPrimary results of the randomized trial of metformin administration in polycystic kidney disease (TAME PKD).
Kidney internationalTWEAK Signaling Pathway Blockade Slows Cyst Growth and Disease Progression in Autosomal Dominant Polycystic Kidney Disease.
Journal of the American Society of Nephrology : JASNPKD2 gene variants in Chinese patients with autosomal dominant polycystic kidney disease.
Clinical geneticsA validation study of the kidney failure risk equation in advanced chronic kidney disease according to disease aetiology with evaluation of discrimination, calibration and clinical utility.
BMC nephrologyRegional variations in prevalence and severity of autosomal dominant polycystic kidney disease in the United States.
Current medical research and opinionThe importance of the number of antihypertensives in the progression of autosomal dominant polycystic kidney disease.
NefrologiaBaseline Characteristics and Patient-Reported Outcomes of ADPKD Patients in the Multicenter TAME-PKD Clinical Trial.
Kidney360Metabolic profiling in children and young adults with autosomal dominant polycystic kidney disease.
Scientific reportsThe genetic background significantly impacts the severity of kidney cystic disease in the Pkd1RC/RC mouse model of autosomal dominant polycystic kidney disease.
Kidney internationalAssessing Risk of Rapid Progression in Autosomal Dominant Polycystic Kidney Disease and Special Considerations for Disease-Modifying Therapy.
American journal of kidney diseases : the official journal of the National Kidney FoundationThe wind of change in the management of autosomal dominant polycystic kidney disease in childhood.
Pediatric nephrology (Berlin, Germany)Excess healthcare costs in patients with autosomal dominant polycystic kidney disease by renal dysfunction stage.
Journal of medical economicsThe genetic landscape of polycystic kidney disease in Ireland.
European journal of human genetics : EJHGMulticenter Study of Long-Term Safety of Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease.
Clinical journal of the American Society of Nephrology : CJASNInteractions between FGF23 and Genotype in Autosomal Dominant Polycystic Kidney Disease.
Kidney360Serum Copeptin, NLPR3, and suPAR Levels among Patients with Autosomal-Dominant Polycystic Kidney Disease with and without Impaired Renal Function.
Cardiorenal medicineThiazide diuretics and the rate of disease progression in autosomal dominant polycystic kidney disease: an observational study.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationClinical characteristics associated with 1-year tolvaptan efficacy in autosomal dominant polycystic kidney disease with a wide range of kidney functions.
The journal of medical investigation : JMIPrevalence, risk factors and disease knowledge of polycystic kidney disease in Pakistan.
International journal of immunopathology and pharmacologyAutosomal Dominant Polycystic Kidney Disease.
Primary careSalt, water, and vasopressin in polycystic kidney disease.
Kidney internationalAutomatic semantic segmentation of kidney cysts in MR images of patients affected by autosomal-dominant polycystic kidney disease.
Abdominal radiology (New York)Performance of the Kidney Failure Risk Equation by Disease Etiology in Advanced CKD.
Clinical journal of the American Society of Nephrology : CJASNHypertensive nephropathy: a major roadblock hindering the advance of precision nephrology.
Clinical kidney journalPansomatostatin Agonist Pasireotide Long-Acting Release for Patients with Autosomal Dominant Polycystic Kidney or Liver Disease with Severe Liver Involvement: A Randomized Clinical Trial.
Clinical journal of the American Society of Nephrology : CJASNEstablishing a Core Outcome Set for Autosomal Dominant Polycystic Kidney Disease: Report of the Standardized Outcomes in Nephrology-Polycystic Kidney Disease (SONG-PKD) Consensus Workshop.
American journal of kidney diseases : the official journal of the National Kidney FoundationAdvances in Autosomal Dominant Polycystic Kidney Disease: A Clinical Review.
Kidney medicineThe value of genotypic and imaging information to predict functional and structural outcomes in ADPKD.
JCI insightKIM-1 and Kidney Disease Progression in Autosomal Dominant Polycystic Kidney Disease: HALT-PKD Results.
American journal of nephrologyUrinary Angiotensinogen in addition to Imaging Classification in the Prediction of Renal Outcome in Autosomal Dominant Polycystic Kidney Disease.
Journal of Korean medical scienceExpanded Imaging Classification of Autosomal Dominant Polycystic Kidney Disease.
Journal of the American Society of Nephrology : JASNAutosomal Dominant Polycystic Kidney Disease Presenting as Colossal Abdomen.
UrologyModulation of polycystic kidney disease by G-protein coupled receptors and cyclic AMP signaling.
Cellular signallingMetabolic Reprogramming in Autosomal Dominant Polycystic Kidney Disease: Evidence and Therapeutic Potential.
Clinical journal of the American Society of Nephrology : CJASNAssociation between anemia and renal prognosis in autosomal dominant polycystic kidney disease: a retrospective study.
Clinical and experimental nephrologyThe Role of Endothelin and Endothelin Antagonists in Chronic Kidney Disease.
Kidney diseases (Basel, Switzerland)Role of oxygen and the HIF-pathway in polycystic kidney disease.
Cellular signallingDetection and characterization of mosaicism in autosomal dominant polycystic kidney disease.
Kidney international[Research progress in autosomal dominant polycystic kidney disease].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesHypoxia and Endothelial Dysfunction in Autosomal-Dominant Polycystic Kidney Disease.
Seminars in nephrologyEffectiveness of Tolvaptan in the Treatment for Patients with Autosomal Dominant Polycystic Kidney Disease: A Meta-analysis.
Combinatorial chemistry & high throughput screeningα-lipoic acid in patients with autosomal dominant polycystic kidney disease.
Nutrition (Burbank, Los Angeles County, Calif.)Design and optimization strategies for the development of new drugs that treat chronic kidney disease.
Expert opinion on drug discoveryUpdate and review of adult polycystic kidney disease.
Disease-a-month : DMTRPP2 dysfunction decreases ATP-evoked calcium, induces cell aggregation and stimulates proliferation in T lymphocytes.
BMC nephrologyRuptured intracranial aneurysm and recessive polycystic kidney Disease: A Rare Association.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi ArabiaSynergistic Genetic Interactions between Pkhd1 and Pkd1 Result in an ARPKD-Like Phenotype in Murine Models.
Journal of the American Society of Nephrology : JASNCrystal deposition triggers tubule dilation that accelerates cystogenesis in polycystic kidney disease.
The Journal of clinical investigationDietary Care for ADPKD Patients: Current Status and Future Directions.
NutrientsKidney and cystic volume imaging for disease presentation and progression in the cat autosomal dominant polycystic kidney disease large animal model.
BMC nephrologyAutomatic Measurement of Kidney and Liver Volumes from MR Images of Patients Affected by Autosomal Dominant Polycystic Kidney Disease.
Journal of the American Society of Nephrology : JASNSoluble Urokinase Plasminogen Activator Receptor and Decline in Kidney Function in Autosomal Dominant Polycystic Kidney Disease.
Journal of the American Society of Nephrology : JASNAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Nefropatia progressiva com hipertensão autossômica dominante.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Nefropatia progressiva com hipertensão autossômica dominante
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- The Hidden Iceberg of ADPKD: Early Organomegaly-Driven Malnutrition and Sarcopenia Beyond Preserved eGFR.
- 2025 KDIGO Executive Summary: Diagnosis and Management of Pediatric Autosomal Dominant Polycystic Kidney Disease.
- Unravelling sex-specific differences in autosomal dominant polycystic kidney disease: a multiorgan perspective.
- Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.
- Tuberous sclerosis complex with multisystem involvement: A case report.
- An unusual presentation of UMOD-associated autosomal dominant tubulointerstitial kidney disease in a pediatric patient.
- Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers.
- Autosomal Dominant Polycystic Kidney Disease: A Review.
- Characteristics of patients with autosomal polycystic kidney disease reaching kidney failure by age 40.
- Vascular Dysfunction in Polycystic Kidney Disease: A Mini-Review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:88659(Orphanet)
- OMIM OMIM:161900(OMIM)
- MONDO:0008071(MONDO)
- GARD:16772(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55781273(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
