5,748 results match your criteria Autosomal Dominant Polycystic Kidney Disease


Automatic cyst and kidney segmentation in autosomal dominant polycystic kidney disease: Comparison of U-Net based methods.

Comput Biol Med 2022 Jul 9;146:105431. Epub 2022 Apr 9.

Department of Management, Information and Production and Engineering, University of Bergamo, Dalmine, BG, Italy. Electronic address:

Autosomal Dominant Polycystic Kidney Disease is a genetic disease that causes uncontrolled growth of fluid-filled cysts in the kidney. Kidney enlargement resulting from the expansion of cysts is continuous and often associated with decreased renal function and kidney failure. Mouse and rat models are necessary to discover new drugs able to halt the progression of the disease. Read More

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Parapelvic Cysts: An Imaging Marker of Kidney Disease Potentially Leading to the Diagnosis of Treatable Rare Genetic Disorders? A Narrative Review of the Literature.

J Nephrol 2022 Jun 24. Epub 2022 Jun 24.

Department of Public Health, Chair of Nephrology "Federico II", University of Naples, Via Sergio Pansini, 5, 80131, Naples, Italy.

Simple renal cysts are a common finding during abdominal imaging assessment. The incidence increases with age and it is higher in male gender. Parapelvic cysts are a subset of simple cysts that arise within the renal parenchyma, adjacent to the renal sinus, characterized by being generally single, larger, and incompletely surrounded by renal parenchyma. Read More

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PF-06409577 inhibits renal cyst progression by concurrently inhibiting the mTOR pathway and CFTR channel activity.

FEBS Open Bio 2022 Jun 24. Epub 2022 Jun 24.

Jiangsu Key Laboratory of New Drug Research and Clinical Pharmacy, Xuzhou Medical University, Xuzhou, 221004, Jiangsu, China.

Renal cyst development and expansion in autosomal dominant polycystic kidney disease (ADPKD) involves over-proliferation of cyst-lining epithelial cells and excessive cystic fluid secretion. While metformin effectively inhibits renal cyst growth in mouse models of ADPKD it exhibits low potency, and thus an AMPK activator with higher potency is required. Herein, we adopted a drug repurposing strategy to explore the potential of PF-06409577, an adenosine monophosphate-activated protein kinase (AMPK) activator for diabetic nephropathy, in cellular, ex vivo and in vivo models of ADPKD. Read More

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A Case Report of Tolvaptan Therapy for ADPKD Patients With COVID-19. The Need for Appropriate Counselling for Temporary Drug Discontinuation.

In Vivo 2022 Jul-Aug;36(4):1994-1997

Nephrology, Dialysis and Kidney Transplantation Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy;

Background: Patients with autosomal dominant polycystic kidney disease (ADPKD) may require specific therapy with vasopressin receptor antagonists to slow the progression of renal disease. Because of its mechanism of action, the most common side effects are polyuria, nocturia, and polydipsia. Elevations of liver enzyme levels can also occur during treatment with Tolvaptan. Read More

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Correction to: Is autosomal dominant polycystic kidney disease an early sweet disease?

Pediatr Nephrol 2022 Jun 21. Epub 2022 Jun 21.

PKD Research Group, GPURE, Department of Development and Regeneration, KU Leuven, Leuven, Belgium.

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Health Disparities in Autosomal Dominant Polycystic Kidney Disease (ADPKD) in the United States.

Clin J Am Soc Nephrol 2022 Jun 20. Epub 2022 Jun 20.

Section of Nephrology, Department of Medicine, University of Chicago, Chicago, Illinois.

Background And Objectives: Autosomal dominant polycystic kidney disease (ADPKD) occurs at conception and is often diagnosed decades prior to kidney failure. Nephrology care and transplantation access should be independent of race and ethnicity. However, institutional racism and barriers to health care may affect patient outcomes in ADPKD. Read More

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Changing Health Disparities in Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Authors:
Suzanne F Ruff

Clin J Am Soc Nephrol 2022 Jun 20. Epub 2022 Jun 20.

Mooresville, North Carolina

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The Effect of Dietary Intervention on Autosomal-Dominant Polycystic Kidney Disease (ADPKD) Patients on Tolvaptan and Their Quality of Life.

Authors:
Ola Tarabzuni

Cureus 2022 May 16;14(5):e25045. Epub 2022 May 16.

Department of Nephrology, McMaster University, Hamilton, CAN.

Background and objective Autosomal-dominant polycystic kidney disease (ADPKD) is the most common inherited renal disorder; it affects people of all ethnic groups and is found in up to 10% of patients with end-stage renal disease (ESRD). Dietary intervention is important in people with renal disease, and it has been linked to greater estimated glomerular filtration rate (eGFR) preservation. Tolvaptan, an orally-active nonpeptide, selective arginine vasopressin (AVP) V2R antagonist, was recently licensed in numerous countries for the treatment of ADPKD. Read More

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Research priorities for autosomal dominant polycystic kidney disease: a UK priority setting partnership.

BMJ Open 2022 Jun 15;12(6):e055780. Epub 2022 Jun 15.

James Lind Alliance, Southampton, UK.

Objectives: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney condition, accounting for 7%-10% of patients with kidney failure. Fundamental basic science and clinical research on ADPKD is underway worldwide but no one has yet considered which areas should be prioritised to maximise returns from limited future funding. The Polycystic Kidney Disease Charity began a priority setting partnership with the James Lind Alliance (JLA) in the UK in 2019-2020 to identify areas of uncertainty in the ADPKD care pathway and allow patients, carers and healthcare professionals to rank the 10 most important questions for research. Read More

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Echocardiographic Findings and Genotypes in Autosomal Dominant Polycystic Kidney Disease.

Kidney Dis (Basel) 2022 May 26;8(3):246-252. Epub 2021 Nov 26.

Nephrology Center, Toranomon Hospital, Tokyo, Japan.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary cystic kidney disease and is well known to have extrarenal complications. Cardiovascular complications are of particular clinical relevance because of their morbidity and mortality; however, unclear is why they occur so frequently in patients with ADPKD and whether they are related to the genotypes.

Methods: We extracted and retrospectively analyzed clinical data on patients with ADPKD who underwent echocardiography and whose genotype was confirmed by genetic testing between April 2016 and December 2020. Read More

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Unilateral Cystic Kidney Disease in a Young Female.

Cureus 2022 May 4;14(5):e24719. Epub 2022 May 4.

Nephrology, Grandview Medical Center, Dayton, USA.

Unilateral renal cystic disease has been mostly reported in older male patients; however, this case is novel as the youngest reported case in the literature and in a female patient. We present a 22-year-old female with no past medical history and no family history of renal disease that was incidentally found to have unilateral renal cystic disease on computed tomography imaging. The patient's renal function was not impaired and the cystic kidney was found to be functioning appropriately on an intravenous pyelogram. Read More

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Ketogenic dietary interventions in autosomal dominant polycystic kidney disease-a retrospective case series study: first insights into feasibility, safety and effects.

Clin Kidney J 2022 Jun 13;15(6):1079-1092. Epub 2021 Sep 13.

Department of Molecular, Cellular, and Developmental Biology and Neuroscience Research Institute, University of California Santa Barbara, Santa Barbara, CA, USA.

Background: Our laboratory published the first evidence that nutritional ketosis, induced by a ketogenic diet (KD) or time-restricted diet (TRD), ameliorates disease progression in polycystic kidney disease (PKD) animal models. We reasoned that, due to their frequent use for numerous health benefits, some autosomal dominant PKD (ADPKD) patients may already have had experience with ketogenic dietary interventions (KDIs). This retrospective case series study is designed to collect the first real-life observations of ADPKD patients about safety, feasibility and possible benefits of KDIs in ADPKD as part of a translational project pipeline. Read More

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More dissimilarities than affinities between DNAJB11-PKD and ADPKD.

Clin Kidney J 2022 Jun 31;15(6):1179-1187. Epub 2022 Jan 31.

Unità Operativa Nefrologia, Azienda-Ospedaliero Universitaria di Parma & Dipartimento di Medicina e Chirurgia, Università di Parma, Parma, Italy.

Background: Polycystic kidney diseases (PKD) are an important cause of chronic kidney disease (CKD). Autosomal dominant polycystic kidney disease (ADPKD) due to or mutations is the most common form, but other genes can be responsible for ADPKD and its phenocopies. Among them, a form of atypical ADPKD caused by mutations (DNAJB11-PKD) has been recently described. Read More

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Can ketogenic dietary interventions slow disease progression in ADPKD: what we know and what we don't.

Clin Kidney J 2022 Jun 21;15(6):1034-1036. Epub 2022 Apr 21.

Inherited Kidney Disorders, Department of Nephrology, Fundació Puigvert, IIB Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease leading to kidney failure. To date, there is no cure for the disease although there is one approved disease-modifying therapy: tolvaptan. In this context, a common question that ADPKD patients ask in clinical practice is whether there is anything they can do to slow their disease by modifying their diet or lifestyle. Read More

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Simultaneous nephrectomy during kidney transplantation for polycystic kidney disease does not detrimentally impact comorbidity and graft survival.

World J Transplant 2022 May;12(5):100-111

Surgical and Abdominal Transplantation Unit, University Clinics Saint Luc, Brussels 1200, Belgium.

Background: The lack of space, as an indication for a native unilateral nephrectomy for positioning a future kidney graft in the absence of other autosomal dominant polycystic kidney disease-related symptoms, remains controversial.

Aim: To evaluate the surgical comorbidity and the impact on graft survival of an associated ipsilateral native nephrectomy during isolated kidney transplantation in patients with autosomal dominant polycystic kidney disease.

Methods: One hundred and fifty-four kidney transplantations performed between January 2007 and January 2019 of which 77 without (kidney transplant alone (KTA) group) and 77 with associated ipsilateral nephrectomy (KTIN group), were retrospectively reviewed. Read More

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Comparative Efficacy of Pharmacological Treatments for Adults With Autosomal Dominant Polycystic Kidney Disease: A Systematic Review and Network Meta-Analysis of Randomized Controlled Trials.

Front Pharmacol 2022 18;13:885457. Epub 2022 May 18.

Department of Medical Science and Cardiorenal Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

Tolvaptan is the gold standard treatment for autosomal dominant polycystic kidney disease (ADPKD), while several other drugs have the potential to inhibit the progression of ADPKD. However, individual clinical trials may not show sufficient differences in clinical efficacy due to small sample sizes. Furthermore, the differences in therapeutic efficacy among drugs are unclear. Read More

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Ttc21b deficiency attenuates autosomal dominant polycystic kidney disease in a kidney tubular- and maturation-dependent manner.

Kidney Int 2022 May 27. Epub 2022 May 27.

Department of Anatomy and Cell Biology, The Jared Grantham Kidney Institute, University of Kansas Medical Center, Kansas City, Kansas, USA. Electronic address:

Primary cilia are sensory organelles built and maintained by intraflagellar transport (IFT) multiprotein complexes. Deletion of several IFT-B genes attenuates polycystic kidney disease (PKD) severity in juvenile and adult autosomal dominant polycystic kidney disease (ADPKD) mouse models. However, deletion of an IFT-A adaptor, Tulp3, attenuates PKD severity in adult mice only. Read More

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Safety of High-Dose 3% Sodium Tetradecyl Sulfate for Sclerotherapy of Renal Cysts in Patients with Autosomal Dominant Polycystic Kidney Disease.

J Vasc Interv Radiol 2022 Jun;33(6):715-718

Division of Vascular and Interventional Radiology, Toronto General Hospital-University Health Network/University of Toronto, Toronto, Ontario, Canada; Division of General Surgery, Toronto General Hospital-University Health Network/University of Toronto, Toronto, Ontario, Canada.

This study assessed the safety profile of high-volume (>10 mL) 3% sodium tetradecyl sulfate (STS) sclerotherapy for the treatment of renal cysts in patients with autosomal dominant polycystic kidney disease. A total of 211 sclerotherapy treatments were performed in 169 patients over a 5-year period, with a comparison of 2 patient cohorts based on the STS volumes used. The first cohort (n = 112) received a high volume (greater than 10 mL) of STS, and the second cohort (n = 57) received a low volume (less than 10 mL). Read More

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[Polycystic kidneys: Genetic testing and correct classification clinically and therapeutically of increasing significance].

Authors:
Carsten Bergmann

Dtsch Med Wochenschr 2022 Jun 30;147(11):710-717. Epub 2022 May 30.

Medizinische Genetik Mainz.

Cystic kidney disease is a clinically and genetically diverse group of diseases, with more than 100 genes known to date. One in 500 is affected worldwide, mostly due to a malfunction of cilia. New genes have been identified recently for the most common form autosomal dominant polycystic kidney disease (ADPKD). Read More

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Pancreatic extracorporeal shock wave lithotripsy for a patient concurrent with autosomal dominant polycystic kidney disease: a case report.

J Int Med Res 2022 May;50(5):3000605221100748

Department of Gastroenterology, Changhai Hospital, The Second Military Medical University, Shanghai, China.

Whether pancreatic extracorporeal shock wave lithotripsy (ESWL) is safe for patients with autosomal dominant polycystic kidney disease (ADPKD) is unclear. A woman in her early 30s was admitted to our hospital because of intermittent upper abdominal pain and recurrent pancreatitis. The imaging results confirmed the diagnosis of pancreatic stones and ADPKD. Read More

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The predictive value of renal parenchymal information for renal function impairment in patients with ADPKD: a multicenter prospective study.

Abdom Radiol (NY) 2022 May 28. Epub 2022 May 28.

Department of Radiology, Affiliated Hospital of Jiangsu University, No. 438, Jiefang Road, Zhenjiang, 212001, Jiangsu, China.

Objective: Although the guideline indicates that total kidney volume (TKV) is an important detection indicator in patients with autosomal dominant polycystic kidney disease (ADPKD), this study attempted to demonstrate that renal parenchymal information, combined with parenchymal volume and radiomics features, may have more valuable clinical guiding significance.

Methods: A totals of 340 ADPKD patients with normal renal function were prospectively collected and followed-up for five years, with renal function tests and non-contrast computed tomography (CT) performed every six months. The relationship between renal function impairment and renal parenchymal volume (RPV) as along with radiomics features was explored using a multiple linear regression model and multiple logistic regression. Read More

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A Spontaneous Extracranial Internal Carotid Artery Dissection with Autosomal Dominant Polycystic Kidney Disease: A Case Report and Literature Review.

Medicina (Kaunas) 2022 May 20;58(5). Epub 2022 May 20.

Department of Neurosurgery, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki 852-8501, Japan.

: Non-cystic manifestation of autosomal dominant polycystic kidney disease (ADPKD) is an important risk factor for cerebral aneurysms. In this report, we describe a rare spontaneous internal carotid artery (ICA) dissection in a patient with ADPKD. A 38-year-old woman with a history of ADPKD and acute myocardial infarction due to coronary artery dissection experienced severe spontaneous pain on the left side of her neck. Read More

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Establishment and Characterization of MUi027-A: A Novel Patient-Derived Cell Line of Polycystic Kidney Disease with Mutation.

J Pers Med 2022 May 9;12(5). Epub 2022 May 9.

Department of Anatomy, Faculty of Science, Mahidol University, Bangkok 10400, Thailand.

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most prevalent genetic diseases affecting the kidneys. A genetically specific mutation model is required to comprehend its pathophysiology and to develop a drug treatment. In this study, we successfully developed human induced pluripotent stem cells (hiPSCs) named MUi027-A from skin fibroblasts of a patient diagnosed with ADPKD and carrying the frameshift mutation (c. Read More

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Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants.

Genes (Basel) 2022 May 16;13(5). Epub 2022 May 16.

Area di Ricerca Genetica e Malattie Rare, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.

Objective: The co-occurrence of pathogenic variants has emerged as a relatively common finding underlying complex phenotypes. Here, we used whole-exome sequencing (WES) to solve an unclassified multisystem clinical presentation.

Patients And Methods: A 20-year-old woman affected by moderate intellectual disability (ID), dysmorphic features, hypertrichosis, scoliosis, recurrent bronchitis, and pneumonia with bronchiectasis, colelithiasis, chronic severe constipation, and a family history suggestive of autosomal dominant recurrence of polycystic kidney disease was analyzed by WES to identify the genomic events underlying the condition. Read More

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Outcomes of Kidney Transplantation in Patients with Autosomal Dominant Polycystic Kidney Disease: Our Experience Based on 35-Years Follow-Up.

Diagnostics (Basel) 2022 May 8;12(5). Epub 2022 May 8.

Division of Nephrology, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung 40705, Taiwan.

Background And Objectives: For patients with end-stage renal disease (ESRD), the best replacement therapy is renal transplant (RTx) to ensure life with good quality. Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder and a common cause of ESRD. Different from ESRD of other causes, ADPKD patients need careful pre-RTx evaluations like detecting the presence of intracranial aneurisms, cardiac manifestations, and complications of liver and renal cysts. Read More

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Deep Learning-Based Total Kidney Volume Segmentation in Autosomal Dominant Polycystic Kidney Disease Using Attention, Cosine Loss, and Sharpness Aware Minimization.

Diagnostics (Basel) 2022 May 7;12(5). Epub 2022 May 7.

Computer Assisted Clinical Medicine, Mannheim Institute for Intelligent Systems in Medicine, Medical Faculty Mannheim, Heidelberg University, 68167 Mannheim, Germany.

Early detection of the autosomal dominant polycystic kidney disease (ADPKD) is crucial as it is one of the most common causes of end-stage renal disease (ESRD) and kidney failure. The total kidney volume (TKV) can be used as a biomarker to quantify disease progression. The TKV calculation requires accurate delineation of kidney volumes, which is usually performed manually by an expert physician. Read More

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Single Gene Mutations in or Alter Extracellular Vesicle Production and Trafficking.

Biology (Basel) 2022 May 6;11(5). Epub 2022 May 6.

Department of Pediatrics, Le Bonheur Children's Hospital, University of Tennessee Health Science Center, Memphis, TN 38103, USA.

Patients with autosomal dominant polycystic kidney disease (ADPKD) and tuberous sclerosis complex (TSC) are born with normal or near-normal kidneys that later develop cysts and prematurely lose function. Both renal cystic diseases appear to be mediated, at least in part, by disease-promoting extracellular vesicles (EVs) that induce genetically intact cells to participate in the renal disease process. We used centrifugation and size exclusion chromatography to isolate the EVs for study. Read More

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Recessive Mutations Are Associated With Febrile Seizures and Epilepsy With Antecedent Febrile Seizures and the Genotype-Phenotype Correlation.

Front Mol Neurosci 2022 10;15:861159. Epub 2022 May 10.

Department of Neurology, Institute of Neuroscience, The Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

Objective: The encodes polycystin-1, a large transmembrane protein that plays important roles in cell proliferation, apoptosis, and cation transport. Previous studies have identified mutations in autosomal dominant polycystic kidney disease (ADPKD). However, the expression of in the brain is much higher than that in the kidney. Read More

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Loss of Polycystin-1 causes cAMP-dependent switch from tubule to cyst formation.

iScience 2022 Jun 5;25(6):104359. Epub 2022 May 5.

Department of Nephrology and Hypertension, Friedrich-Alexander-University Erlangen-Nuernberg, Ulmenweg 18, 91054 Erlangen, Germany.

Autosomal dominant polycystic kidney disease is the most common monogenic disease that causes end-stage renal failure. It primarily results from mutations in the PKD1 gene that encodes for Polycystin-1. How loss of Polycystin-1 translates into bilateral renal cyst development is mostly unknown. Read More

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Change in Urinary Myoinositol/Citrate Ratio Associates with Progressive Loss of Renal Function in ADPKD Patients.

Am J Nephrol 2022 May 25:1-11. Epub 2022 May 25.

Department of Nephrology, Leiden University Medical Center, Leiden, The Netherlands.

Introduction: In autosomal dominant polycystic kidney disease (ADPKD) patients, predicting renal disease progression is important to make a prognosis and to support the clinical decision whether to initiate renoprotective therapy. Conventional markers all have their limitations. Metabolic profiling is a promising strategy for risk stratification. Read More

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