Raras
Buscar doenças, sintomas, genes...
Nefropatia progressiva com hipertensão autossômica dominante
ORPHA:88659CID-10 · I15.1CID-11 · BA04.YOMIM 161900DOENÇA RARA

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.

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Introdução

O que você precisa saber de cara

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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

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
14
pacientes catalogados
Início
Adult
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: I15.1
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Sinais e sintomas

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

Características mais comuns

Hematúria microscópica
Hipertensão
Nefrite
Insuficiência renal
Concentração elevada de creatinina circulante
Doença renal crônica estágio 5
10sintomas
Sem dados (10)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 10 características clínicas mais associadas, ordenadas por frequência.

Hematúria microscópicaMicroscopic hematuria
HipertensãoHypertension
NefriteNephritis
Insuficiência renalRenal insufficiency
Concentração elevada de creatinina circulanteElevated circulating creatinine concentration

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Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202339 papers
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2026Hoje · 2026📈 2023Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

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

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

The Hidden Iceberg of ADPKD: Early Organomegaly-Driven Malnutrition and Sarcopenia Beyond Preserved eGFR.

International journal of molecular sciences2026 Feb 09

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.

#2

2025 KDIGO Executive Summary: Diagnosis and Management of Pediatric Autosomal Dominant Polycystic Kidney Disease.

Kidney &amp; blood pressure research2026

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.

#3

Unravelling sex-specific differences in autosomal dominant polycystic kidney disease: a multiorgan perspective.

Clinical kidney journal2026 Jan

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.

#4

Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.

Clinical nephrology. Case studies2026

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.

#5

Tuberous sclerosis complex with multisystem involvement: A case report.

The Journal of international medical research2026 Feb

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

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

Unravelling sex-specific differences in autosomal dominant polycystic kidney disease: a multiorgan perspective.

Clinical kidney journal
2026

Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.

Clinical nephrology. Case studies
2026

The Hidden Iceberg of ADPKD: Early Organomegaly-Driven Malnutrition and Sarcopenia Beyond Preserved eGFR.

International journal of molecular sciences
2025

[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 sciences
2026

Tuberous sclerosis complex with multisystem involvement: A case report.

The Journal of international medical research
2026

Vascular transcriptional and metabolic changes precede progressive intrarenal microvascular rarefaction in autosomal dominant polycystic kidney disease.

American journal of physiology. Renal physiology
2026

The many faces of cholesterol in autosomal dominant polycystic kidney disease.

Kidney international
2026

2025 KDIGO Executive Summary: Diagnosis and Management of Pediatric Autosomal Dominant Polycystic Kidney Disease.

Kidney &amp; blood pressure research
2026

Loss of Snhg5 disrupts cell-cycle regulation without altering cystogenesis in a mouse model of polycystic kidney disease.

Scientific reports
2025

Exploring the Role of Plant-Based Nutrition in Polycystic Kidney Disease.

Nutrients
2026

From RAAS blockade to regenerative medicine: evolving treatment strategies in Alport syndrome.

Pediatric nephrology (Berlin, Germany)
2026

An unusual presentation of UMOD-associated autosomal dominant tubulointerstitial kidney disease in a pediatric patient.

Pediatric nephrology (Berlin, Germany)
2026

Contemporary management of advanced chronic kidney disease: An evidence-based review.

European journal of internal medicine
2026

A randomized controlled trial evaluated the effect of pravastatin on kidney disease outcomes in adult patients with early-stage autosomal dominant polycystic kidney disease.

Kidney international
2025

An Elusive Diagnosis of Autosomal Dominant Alport Syndrome: Genomic Sequencing Is a Game Changer.

Cureus
2025

Cardiovascular Complications in ADPKD.

Kidney international reports
2025

Autosomal Dominant Polycystic Kidney Disease: Core Curriculum 2025.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2025

In vivo base editing reduces liver cysts in autosomal dominant polycystic kidney disease.

Molecular therapy : the journal of the American Society of Gene Therapy
2025

Renal tissue-resident macrophages promote cystogenesis in early polycystic kidney disease.

Journal of cell science
2025

Therapies in autosomal dominant polycystic kidney disease: beyond tolvaptan.

Current opinion in nephrology and hypertension
2025

Real-World Safety and Effectiveness of Vadadustat in Patients with Chronic Kidney Disease-Related Anemia: Interim Analysis of Postmarketing Surveillance in Japan.

Advances in therapy
2025

Patients With Mild ADPKD by Kidney Imaging but Low Estimated GFR.

Kidney international reports
2025

Pain Management in Autosomal Dominant Polycystic Kidney Disease: Clinical Challenges and a Stepwise Algorithmic Approach.

Kidney360
2025

Metabolomic profiling of renal cyst fluid in advanced ADPKD: insights from dialysis and transplantation cohorts.

Metabolomics : Official journal of the Metabolomic Society
2025

Can GLP-1 receptor agonists slow the progression of Autosomal Dominant Polycystic Kidney Disease?

BMC nephrology
2025

The Gut Microbiome in Autosomal Dominant Polycystic Kidney Disease: A Cross-Sectional Study.

Kidney360
2025

Association 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 proceedings
2025

Changes in Protein Expression of Renal Drug Transporters and Drug-Metabolizing Enzymes in Autosomal Dominant Polycystic Kidney Disease Patients.

Clinical pharmacology and therapeutics
2025

Intracranial Aneurysms in Autosomal Dominant Polycystic Kidney Disease: A Practical Approach to Screening and Management.

Mayo Clinic proceedings
2025

GLPG2737, a CFTR Inhibitor, Prevents Cyst Growth in Preclinical Models of Autosomal Dominant Polycystic Kidney Disease.

American journal of nephrology
2025

Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers.

HGG advances
2025

Autosomal dominant polycystic kidney disease: an overview of recent genetic and clinical advances.

Renal failure
2025

Time-restricted eating and autosomal dominant polycystic kidney disease: a pilot, randomized clinical trial.

Clinical kidney journal
2025

Therapeutic potential of urinary extracellular vesicles in delivering functional proteins and modulating gene expression for genetic kidney disease.

Biomaterials
2025

GANAB-Associated Severe Autosomal Dominant Polycystic Kidney Disease in an 18-Year-Old Female: A Case Report.

Cureus
2025

Autosomal Dominant Polycystic Kidney Disease: A Review.

JAMA
2025

Polycystic Kidney Disease in Children: The Current Status and the Next Horizon.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2025

Long-term tolvaptan therapy in a case of very early-onset polycystic kidney disease.

Pediatric nephrology (Berlin, Germany)
2025

Overweight Status, Obesity, and Progression to ESKD in Patients with Autosomal Dominant Polycystic Kidney Disease.

Clinical journal of the American Society of Nephrology : CJASN
2025

Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience.

Renal failure
2025

Characteristics of patients with autosomal polycystic kidney disease reaching kidney failure by age 40.

Pediatric nephrology (Berlin, Germany)
2025

The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.

Journal of nephrology
2024

Typical Clinical Presentation of an Autosomal Dominant Polycystic Kidney Disease Patient with an Atypical Genetic Pattern.

Genes
2025

KDIGO 2025 clinical practice guideline for the evaluation, management, and treatment of autosomal dominant polycystic kidney disease (ADPKD): executive summary.

Kidney international
2025

Gut microbiota and kidney function in autosomal dominant polycystic kidney disease participants in Cameroon: a cross-sectional study.

BMC nephrology
2024

Kidney Stone Disease and Progression Risk in Autosomal Dominant Polycystic Kidney Disease: A Post Hoc Analysis of OVERTURE.

Kidney360
2024

Empagliflozin in patients with autosomal dominant polycystic kidney disease (EMPA-PKD): study protocol for a randomised controlled trial.

BMJ open
2024

Mitral Valve Prolapse in a Patient With Polycystic Kidney Disease.

Cureus
2024

May-Hegglin anomaly associated nephropathy: Case series.

SAGE open medical case reports
2024

New Mutation Associated with Polycystic Kidney Disease Type I: A Case Report.

Genes
2025

Kidney and vascular involvement in Alagille syndrome.

Pediatric nephrology (Berlin, Germany)
2025

Treatment of Autosomal-Dominant Polycystic Kidney Disease.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2024

Trigger Warning: How Modern Diet, Lifestyle, and Environment Pull the Trigger on Autosomal Dominant Polycystic Kidney Disease Progression.

Nutrients
2024

Interventions for preventing the progression of autosomal dominant polycystic kidney disease.

The Cochrane database of systematic reviews
2025

Systematic Screening of Autosomal Dominant Tubulointerstitial Kidney Disease- MUC1 27dupC Pathogenic Variant through Exome Sequencing.

Journal of the American Society of Nephrology : JASN
2024

Osteopontin deletion attenuates cyst growth but exacerbates fibrosis in mice with cystic kidney disease.

Physiological reports
2024

Data driven approach to characterize rapid decline in autosomal dominant polycystic kidney disease.

PloS one
2024

Autosomal dominant polycystic kidney disease (ADPKD) with multiple complications: Management challenges.

Narra J
2024

The 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 Therapy
2024

Protocol for the nationwide registry of patients with polycystic kidney disease: japanese national registry of PKD (JRP).

Clinical and experimental nephrology
2024

Measured 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 sciences
2024

An 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 informatics
2024

Grainyhead-like 2 Deficiency and Kidney Cyst Growth in a Mouse Model.

Journal of the American Society of Nephrology : JASN
2024

The screening, diagnosis, and management of patients with autosomal dominant polycystic kidney disease: A national consensus statement from Taiwan.

Nephrology (Carlton, Vic.)
2024

Kidney Disease and Proteomics: A Recent Overview of a Useful Tool for Improving Early Diagnosis.

Advances in experimental medicine and biology
2024

Global analysis of urinary extracellular vesicle small RNAs in autosomal dominant polycystic kidney disease.

The journal of gene medicine
2023

DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort.

Genes
2024

Combining 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 Association
2024

PKD1 Truncating Mutations Accelerate eGFR Decline in Autosomal Dominant Polycystic Kidney Disease Patients.

American journal of nephrology
2024

DKK3 as a potential novel biomarker in patients with autosomal polycystic kidney disease.

Clinical kidney journal
2024

Statin therapy in patients with early-stage autosomal dominant polycystic kidney disease: Design and baseline characteristics.

Contemporary clinical trials
2023

Assessing the Risk of Progression to Kidney Failure in Patients With Autosomal Dominant Polycystic Kidney Disease.

Advances in kidney disease and health
2023

Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes.

Advances in kidney disease and health
2023

Pregnancy in Autosomal Dominant Polycystic Kidney Disease.

Advances in kidney disease and health
2023

Two sides of the same coin: a complex presentation of autosomal dominant tubulointerstitial kidney diseases: a literature review and case reports.

Frontiers in pediatrics
2023

Cystic Kidney Diseases in Children and Adults: Differences and Gaps in Clinical Management.

Seminars in nephrology
2023

Clinical findings, underlying pathogenetic processes and treatment of vascular dysfunction in autosomal dominant polycystic kidney disease.

Renal failure
2023

Prevalence of pericardial effusion in autosomal dominant polycystic kidney disease.

Clinical kidney journal
2024

Polycystic Kidney Disease Diet: What is Known and What is Safe.

Clinical journal of the American Society of Nephrology : CJASN
2023

Pharmacological Nephroprotection in Non-Diabetic Chronic Kidney Disease-Clinical Practice Position Statement of the Polish Society of Nephrology.

Journal of clinical medicine
2023

Vascular Dysfunction in Polycystic Kidney Disease: A Mini-Review.

Journal of vascular research
2023

Clinical Quality Control of MRI Total Kidney Volume Measurements in Autosomal Dominant Polycystic Kidney Disease.

Tomography (Ann Arbor, Mich.)
2023

Immune checkpoint activity regulates polycystic kidney disease progression.

JCI insight
2023

Hypoxia controls expression of kidney-pathogenic MUC1 variants.

Life science alliance
2023

Urinary Biomarkers in Monitoring the Progression and Treatment of Autosomal Dominant Polycystic Kidney Disease-The Promised Land?

Medicina (Kaunas, Lithuania)
2023

Unusual Cause of Thrombocytopenia and Renal Failure in a 14-Year-Old Boy (MYH9-Associated Disorders).

Case reports in nephrology and dialysis
2023

Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.

Hepatology (Baltimore, Md.)
2023

OVERTURE: A Worldwide, Prospective, Observational Study of Disease Characteristics in Patients With ADPKD.

Kidney international reports
2023

The safety and efficacy of tolvaptan in the treatment of patients with autosomal dominant polycystic kidney disease: A systematic review and meta-analysis.

Nefrologia
2023

Severity of polycystic kidney disease revealed by multiparametric MRI.

Magnetic resonance in medicine
2023

Biomarkers in Polycystic Kidney Disease: Are We There?

Advances in kidney disease and health
2023

Drug Development in Autosomal Dominant Polycystic Kidney Disease: Opportunities and Challenges.

Advances in kidney disease and health
2023

Autosomal Dominant Polycystic Kidney Disease in Children and Adolescents: Assessing and Managing Risk of Progression.

Advances in kidney disease and health
2023

Nonpharmacological Management of Autosomal Dominant Polycystic Kidney Disease.

Advances in kidney disease and health
2023

Parasympathetic activity and total fibrotic kidney in autosomal-dominant polycystic kidney disease patients: a pilot study.

International urology and nephrology
2023

Probenecid slows disease progression in a murine model of autosomal dominant polycystic kidney disease.

Physiological reports
2023

Drug repurposing in autosomal dominant polycystic kidney disease.

Kidney international
2023

Elevated checkpoint inhibitor expression and Treg cell number in autosomal dominant polycystic kidney disease and their correlation with disease parameters and hypertension.

Clinical and experimental medicine
2023

Development of gene silencer pyrrole-imidazole polyamides targeting GSK3β for treatment of polycystic kidney diseases.

Journal of pharmacological sciences
2023

Risk Severity Model for Pediatric Autosomal Dominant Polycystic Kidney Disease Using 3D Ultrasound Volumetry.

Clinical journal of the American Society of Nephrology : CJASN
2023

Accuracy and processing time of kidney volume measurement methods in rodents polycystic kidney disease models: superiority of semiautomated kidney segmentation.

American journal of physiology. Renal physiology
2023

Design of two ongoing clinical trials of tolvaptan in the treatment of pediatric patients with autosomal recessive polycystic kidney disease.

BMC nephrology
2023

Utility of new image-derived biomarkers for autosomal dominant polycystic kidney disease prognosis using automated instance cyst segmentation.

Kidney international
2023

Tolvaptan for Children and Adolescents with Autosomal Dominant Polycystic Kidney Disease: Randomized Controlled Trial.

Clinical journal of the American Society of Nephrology : CJASN
2023

Renal Cell Carcinoma in End-Stage Renal Disease: A Retrospective Study in Patients from Hungary.

Pathobiology : journal of immunopathology, molecular and cellular biology
2024

The Clinical and Mutational Spectrum of 69 Turkish Children with Autosomal Recessive or Autosomal Dominant Polycystic Kidney Disease: A Multicenter Retrospective Cohort Study.

Nephron
2023

Venglustat, 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 Foundation
2023

The role of urinary supersaturations for lithogenic salts in the progression of autosomal dominant polycystic kidney disease.

Journal of nephrology
2022

Clinical characteristics and risk factors for kidney failure in patients with autosomal dominant polycystic kidney disease: A retrospective study.

Medicine
2023

Cystic kidney disease in tuberous sclerosis complex: current knowledge and unresolved questions.

Pediatric nephrology (Berlin, Germany)
2023

The tryptophan-metabolizing enzyme indoleamine 2,3-dioxygenase 1 regulates polycystic kidney disease progression.

JCI insight
2022

Consensus document on autosomal dominant polycystic kindey disease from the Spanish Working Group on Inherited Kindey Diseases. Review 2020.

Nefrologia
2022

Impact of kidney function and kidney volume on intracranial aneurysms in patients with autosomal dominant polycystic kidney disease.

Scientific reports
2022

Involvement of ceramide biosynthesis in increased extracellular vesicle release in Pkd1 knock out cells.

Frontiers in endocrinology
2022

Emerging therapies for autosomal dominant polycystic kidney disease with a focus on cAMP signaling.

Frontiers in molecular biosciences
2022

Cardiovascular Outcomes in Kidney Transplant Recipients With ADPKD.

Kidney international reports
2022

Delay in funding of tolvaptan for polycystic kidney disease in Aotearoa New Zealand.

The New Zealand medical journal
2022

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.

Proceedings of the National Academy of Sciences of the United States of America
2022

Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.

American journal of human genetics
2022

A 3D In Vivo Model for Studying Human Renal Cystic Tissue and Mouse Kidney Slices.

Cells
2023

Kynurenines in polycystic kidney disease.

Journal of nephrology
2022

A child with genetic FN1 mutation in the absence of classic glomerulopathy with fibronectin deposits(GFND) findings on biopsy.

BMC nephrology
2022

Evaluation of Suspected Autosomal Alport Syndrome Synonymous Variants.

Kidney360
2022

Asymptomatic Pyuria as a Prognostic Biomarker in Autosomal Dominant Polycystic Kidney Disease.

Kidney360
2022

Comparative analysis of tools to predict rapid progression in autosomal dominant polycystic kidney disease.

Clinical kidney journal
2022

Automated 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)
2022

[Reduced oxidative stress in ADPKD patients treated with tolvaptan].

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia
2022

Estimated GFR in autosomal dominant polycystic kidney disease: errors of an unpredictable method.

Journal of nephrology
2022

Management of autosomal dominant polycystic kidney disease in the era of disease-modifying treatment options.

Kidney research and clinical practice
2022

Obesity, Weight Loss, Lifestyle Interventions, and Autosomal Dominant Polycystic Kidney Disease.

Kidney and dialysis
2022

Effects 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 : CJASN
2022

Endocannabinoid System in Polycystic Kidney Disease.

American journal of nephrology
2022

Protein Kinase A Downregulation Delays the Development and Progression of Polycystic Kidney Disease.

Journal of the American Society of Nephrology : JASN
2022

Volume Progression and Imaging Classification of Polycystic Liver in Early Autosomal Dominant Polycystic Kidney Disease.

Clinical journal of the American Society of Nephrology : CJASN
2022

Weight loss and cystic disease progression in autosomal dominant polycystic kidney disease.

iScience
2022

Metabolic reprogramming in a slowly developing orthologous model of polycystic kidney disease.

American journal of physiology. Renal physiology
2022

Generation of heterozygous PKD1 mutant pigs exhibiting early-onset renal cyst formation.

Laboratory investigation; a journal of technical methods and pathology
2022

Water - A life-giving toxin - A nephrological oxymoron. Health consequences of water and sodium balance disorders. A review article.

Advances in medical sciences
2022

Curcumin Therapy to Treat Vascular Dysfunction in Children and Young Adults with ADPKD: A Randomized Controlled Trial.

Clinical journal of the American Society of Nephrology : CJASN
2022

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.

American journal of human genetics
2022

Metformin improves relevant disease parameters in an autosomal dominant polycystic kidney disease mouse model.

American journal of physiology. Renal physiology
2021

Semi-Automated 3D Volumetric Renal Measurements in Polycystic Kidney Disease Using b0-Images-A Feasibility Study.

Tomography (Ann Arbor, Mich.)
2022

Family History is Important to Identify Patients with Monogenic Causes of Adult-Onset Chronic Kidney Disease.

Nephron
2021

Pre-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 Biology
2021

The 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 Biology
2022

Metformin Therapy in Autosomal Dominant Polycystic Kidney Disease: A Feasibility Study.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2021

Coregulation Analysis of Mechanistic Biomarkers in Autosomal Dominant Polycystic Kidney Disease.

International journal of molecular sciences
2021

Primary results of the randomized trial of metformin administration in polycystic kidney disease (TAME PKD).

Kidney international
2021

TWEAK Signaling Pathway Blockade Slows Cyst Growth and Disease Progression in Autosomal Dominant Polycystic Kidney Disease.

Journal of the American Society of Nephrology : JASN
2021

PKD2 gene variants in Chinese patients with autosomal dominant polycystic kidney disease.

Clinical genetics
2021

A 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 nephrology
2021

Regional variations in prevalence and severity of autosomal dominant polycystic kidney disease in the United States.

Current medical research and opinion
2021

The importance of the number of antihypertensives in the progression of autosomal dominant polycystic kidney disease.

Nefrologia
2020

Baseline Characteristics and Patient-Reported Outcomes of ADPKD Patients in the Multicenter TAME-PKD Clinical Trial.

Kidney360
2021

Metabolic profiling in children and young adults with autosomal dominant polycystic kidney disease.

Scientific reports
2021

The genetic background significantly impacts the severity of kidney cystic disease in the Pkd1RC/RC mouse model of autosomal dominant polycystic kidney disease.

Kidney international
2021

Assessing 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 Foundation
2022

The wind of change in the management of autosomal dominant polycystic kidney disease in childhood.

Pediatric nephrology (Berlin, Germany)
2021

Excess healthcare costs in patients with autosomal dominant polycystic kidney disease by renal dysfunction stage.

Journal of medical economics
2021

The genetic landscape of polycystic kidney disease in Ireland.

European journal of human genetics : EJHG
2020

Multicenter Study of Long-Term Safety of Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease.

Clinical journal of the American Society of Nephrology : CJASN
2020

Interactions between FGF23 and Genotype in Autosomal Dominant Polycystic Kidney Disease.

Kidney360
2020

Serum Copeptin, NLPR3, and suPAR Levels among Patients with Autosomal-Dominant Polycystic Kidney Disease with and without Impaired Renal Function.

Cardiorenal medicine
2021

Thiazide 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 Association
2020

Clinical 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 : JMI
2020

Prevalence, risk factors and disease knowledge of polycystic kidney disease in Pakistan.

International journal of immunopathology and pharmacology
2020

Autosomal Dominant Polycystic Kidney Disease.

Primary care
2020

Salt, water, and vasopressin in polycystic kidney disease.

Kidney international
2021

Automatic semantic segmentation of kidney cysts in MR images of patients affected by autosomal-dominant polycystic kidney disease.

Abdominal radiology (New York)
2020

Performance of the Kidney Failure Risk Equation by Disease Etiology in Advanced CKD.

Clinical journal of the American Society of Nephrology : CJASN
2020

Hypertensive nephropathy: a major roadblock hindering the advance of precision nephrology.

Clinical kidney journal
2020

Pansomatostatin 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 : CJASN
2021

Establishing 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 Foundation
2020

Advances in Autosomal Dominant Polycystic Kidney Disease: A Clinical Review.

Kidney medicine
2020

The value of genotypic and imaging information to predict functional and structural outcomes in ADPKD.

JCI insight
2020

KIM-1 and Kidney Disease Progression in Autosomal Dominant Polycystic Kidney Disease: HALT-PKD Results.

American journal of nephrology
2020

Urinary Angiotensinogen in addition to Imaging Classification in the Prediction of Renal Outcome in Autosomal Dominant Polycystic Kidney Disease.

Journal of Korean medical science
2020

Expanded Imaging Classification of Autosomal Dominant Polycystic Kidney Disease.

Journal of the American Society of Nephrology : JASN
2020

Autosomal Dominant Polycystic Kidney Disease Presenting as Colossal Abdomen.

Urology
2020

Modulation of polycystic kidney disease by G-protein coupled receptors and cyclic AMP signaling.

Cellular signalling
2020

Metabolic Reprogramming in Autosomal Dominant Polycystic Kidney Disease: Evidence and Therapeutic Potential.

Clinical journal of the American Society of Nephrology : CJASN
2020

Association between anemia and renal prognosis in autosomal dominant polycystic kidney disease: a retrospective study.

Clinical and experimental nephrology
2020

The Role of Endothelin and Endothelin Antagonists in Chronic Kidney Disease.

Kidney diseases (Basel, Switzerland)
2020

Role of oxygen and the HIF-pathway in polycystic kidney disease.

Cellular signalling
2020

Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease.

Kidney international
2019

[Research progress in autosomal dominant polycystic kidney disease].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
2019

Hypoxia and Endothelial Dysfunction in Autosomal-Dominant Polycystic Kidney Disease.

Seminars in nephrology
2020

Effectiveness of Tolvaptan in the Treatment for Patients with Autosomal Dominant Polycystic Kidney Disease: A Meta-analysis.

Combinatorial chemistry &amp; high throughput screening
2020

α-lipoic acid in patients with autosomal dominant polycystic kidney disease.

Nutrition (Burbank, Los Angeles County, Calif.)
2020

Design and optimization strategies for the development of new drugs that treat chronic kidney disease.

Expert opinion on drug discovery
2020

Update and review of adult polycystic kidney disease.

Disease-a-month : DM
2019

TRPP2 dysfunction decreases ATP-evoked calcium, induces cell aggregation and stimulates proliferation in T lymphocytes.

BMC nephrology
2019

Ruptured 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 Arabia
2019

Synergistic Genetic Interactions between Pkhd1 and Pkd1 Result in an ARPKD-Like Phenotype in Murine Models.

Journal of the American Society of Nephrology : JASN
2019

Crystal deposition triggers tubule dilation that accelerates cystogenesis in polycystic kidney disease.

The Journal of clinical investigation
2019

Dietary Care for ADPKD Patients: Current Status and Future Directions.

Nutrients
2019

Kidney and cystic volume imaging for disease presentation and progression in the cat autosomal dominant polycystic kidney disease large animal model.

BMC nephrology
2019

Automatic 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 : JASN
2019

Soluble Urokinase Plasminogen Activator Receptor and Decline in Kidney Function in Autosomal Dominant Polycystic Kidney Disease.

Journal of the American Society of Nephrology : JASN

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Doenças relacionadas

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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.

  1. The Hidden Iceberg of ADPKD: Early Organomegaly-Driven Malnutrition and Sarcopenia Beyond Preserved eGFR.
    International journal of molecular sciences· 2026· PMID 41751804mais citado
  2. 2025 KDIGO Executive Summary: Diagnosis and Management of Pediatric Autosomal Dominant Polycystic Kidney Disease.
    Kidney &amp; blood pressure research· 2026· PMID 41569965mais citado
  3. Unravelling sex-specific differences in autosomal dominant polycystic kidney disease: a multiorgan perspective.
    Clinical kidney journal· 2026· PMID 41788616mais citado
  4. Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.
    Clinical nephrology. Case studies· 2026· PMID 41782702mais citado
  5. Tuberous sclerosis complex with multisystem involvement: A case report.
    The Journal of international medical research· 2026· PMID 41656758mais citado
  6. An unusual presentation of UMOD-associated autosomal dominant tubulointerstitial kidney disease in a pediatric patient.
    Pediatr Nephrol· 2026· PMID 41212227recente
  7. Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers.
    HGG Adv· 2025· PMID 40269498recente
  8. Autosomal Dominant Polycystic Kidney Disease: A Review.
    JAMA· 2025· PMID 40126492recente
  9. Characteristics of patients with autosomal polycystic kidney disease reaching kidney failure by age 40.
    Pediatr Nephrol· 2025· PMID 39891678recente
  10. Vascular Dysfunction in Polycystic Kidney Disease: A Mini-Review.
    J Vasc Res· 2023· PMID 37536302recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:88659(Orphanet)
  2. OMIM OMIM:161900(OMIM)
  3. MONDO:0008071(MONDO)
  4. GARD:16772(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. 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

Nefropatia progressiva com hipertensão autossômica dominante
Compêndio · Raras BR

Nefropatia progressiva com hipertensão autossômica dominante

ORPHA:88659 · MONDO:0008071
Prevalência
<1 / 1 000 000
Casos
14 casos conhecidos
Herança
Autosomal dominant
CID-10
I15.1 · Hipertensão secundária a outras afecções renais
CID-11
Início
Adult
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0403443
Repurposing
141 candidatos
acebutololadrenergic receptor antagonist
alaceprilangiotensin converting enzyme inhibitor
aliskiren-hemifumaraterenin inhibitor
+17 outros
Wikidata
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