4,741 results match your criteria Autosomal Dominant Polycystic Kidney Disease


Uroflowmetry alterations in patients with autosomal dominant polycystic kidney disease.

Eur Rev Med Pharmacol Sci 2019 Apr;23(7):2734-2743

Department of Translational and Precision Medicine, UOC Nephrology, Sapienza University of Rome, Rome, Italy.

Objective: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a heterogeneous inherited disease characterized by renal and extrarenal manifestations with progressive fluid-filled cyst development leading to end-stage renal disease. Our aim was to evaluate the prevalence of obstructive urological disease in ADPKD patients and possible associations with endothelial dysfunction, nutritional, metabolic and inflammatory markers.

Patients And Methods: The study included ADPKD patients and control group, who carried out uroflowmetry, an assessment of renal function, metabolic and nutritional parameters and an evaluation of endothelial dysfunction and atherosclerotic markers, such as Renal Resistive Index (RRI), Intima-Media Thickness (IMT) and Flow-Mediated Dilation (FMD). Read More

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http://www.europeanreview.org/article/17546
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http://dx.doi.org/10.26355/eurrev_201904_17546DOI Listing
April 2019
1 Read

Drug prioritization using the semantic properties of a knowledge graph.

Sci Rep 2019 Apr 18;9(1):6281. Epub 2019 Apr 18.

Department of Human Genetics, Leiden University Medical Center, 2300 RC, Leiden, The Netherlands.

Compounds that are candidates for drug repurposing can be ranked by leveraging knowledge available in the biomedical literature and databases. This knowledge, spread across a variety of sources, can be integrated within a knowledge graph, which thereby comprehensively describes known relationships between biomedical concepts, such as drugs, diseases, genes, etc. Our work uses the semantic information between drug and disease concepts as features, which are extracted from an existing knowledge graph that integrates 200 different biological knowledge sources. Read More

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http://www.nature.com/articles/s41598-019-42806-6
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http://dx.doi.org/10.1038/s41598-019-42806-6DOI Listing
April 2019
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Subarachnoid Hemorrhage in Hospitalized Renal Transplant Recipients with Autosomal Dominant Polycystic Kidney Disease: A Nationwide Analysis.

J Clin Med 2019 Apr 17;8(4). Epub 2019 Apr 17.

Department of Medicine, Division of Gastroenterology and Hepatology, Mayo Clinic, Jacksonville, FL 32224, USA.

Background: This study aimed to evaluate the hospitalization rates for subarachnoid hemorrhage (SAH) among renal transplant patients with adult polycystic kidney disease (ADPKD) and its outcomes, when compared to non-ADPKD renal transplant patients.

Methods: The 2005-2014 National Inpatient Sample databases were used to identify all hospitalized renal transplant patients. The inpatient prevalence of SAH as a discharge diagnosis between ADPKD and non-ADPKD renal transplant patients was compared. Read More

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https://www.mdpi.com/2077-0383/8/4/524
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http://dx.doi.org/10.3390/jcm8040524DOI Listing
April 2019
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Endothelin-1 as a therapeutic target in autosomal dominant polycystic kidney disease
.

Clin Nephrol 2019 Apr 16. Epub 2019 Apr 16.

Aims: Endothelin-1 (ET-1) is associated with the pathophysiology of autosomal dominant polycystic kidney disease (ADPKD) via cyst progression. Elevated concentrations of ET-1 in ADPKD correlate with many phenotypic changes in the kidney such as renal cyst development, interstitial fibrosis, and glomerulosclerosis. In addition, an imbalance between renal ET and ET receptors possibly leads to more severe disease progression. Read More

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http://dx.doi.org/10.5414/CN109598DOI Listing
April 2019
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Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients.

Clin Exp Nephrol 2019 Apr 15. Epub 2019 Apr 15.

Department of Medicine, Kidney Center, Tokyo Women's Medical University, Tokyo, Japan.

Background: Autosomal dominant polycystic kidney disease (ADPKD), one of the most common hereditary kidney diseases, causes gradual growth of cysts in the kidneys, leading to renal failure. Owing to the advanced technology of next-generation sequencing (NGS), genetic analyses of the causative genes PKD1 and PKD2 have been improved.

Methods: We performed genetic analyses of 111 Japanese ADPKD patients using hybridization-based NGS and long-range (LR)-PCR-based NGS. Read More

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http://dx.doi.org/10.1007/s10157-019-01736-3DOI Listing
April 2019
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[Psychological Assessment of a sample of women with ADPKD: quality of life, body image, anxiety and depression].

G Ital Nefrol 2019 Apr;36(2)

Primario Servizio di Psicologia Clinica e della Salute, IRCCS Ospedale San Raffaele, Milano, Italia; Università Vita Salute San Raffale, Milano, Italia.

Introduction: The Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a chronic renal disease that has not yet been the subject of psychological research. There are only a few studies related to the consequences and complications of this pathology on female patients, although women affected by this disease present serious problems.

Aim: The purpose of this study is to perform a psychological assessment (quality of life, anxiety, depression, body image) on a sample of 37 women with ADPKD. Read More

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April 2019
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[F-FDG positron emission tomography in non-oncological renal pathology: Current indications and perspectives].

Nephrol Ther 2019 Apr 11. Epub 2019 Apr 11.

Service de néphrologie, centre hospitalier universitaire de Liège, avenue Hippocrate 13, 4000 Liège, Belgique; Groupe interdisciplinaire de géno-protéomique appliquée (GIGA), sciences cardiovasculaires, université de Liège, Liège, Belgique. Electronic address:

Positron emission tomography combined with computed tomography (PET/CT) is a nuclear imaging technique which provides anatomical and functional information. PET/CT is increasingly used in non-oncological nephrology since conventional radiological approaches after injection of contrast agents are relatively contra-indicated in patients with chronic kidney disease (CKD). PET/CT after i. Read More

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http://dx.doi.org/10.1016/j.nephro.2018.11.007DOI Listing
April 2019
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Caffeine Accelerates Cystic Kidney Disease in a Pkd1-Deficient Mouse Model.

Cell Physiol Biochem 2019 ;52(5):1061-1074

Nephrology Division, Universidade Federal de São Paulo, São Paulo, Brazil.

Background/aims: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive cyst formation and growth, leading to end-stage renal disease. A higher kidney volume is predictive of a more accelerated decline in renal function. This study aimed to examine the effects of caffeine, a phosphodiesterase inhibitor, on the progression of cystic kidney disease in a mouse model orthologous to human disease (Pkd1:Nestin). Read More

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http://dx.doi.org/10.33594/000000072DOI Listing
January 2019
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Clinical significance of incidentally discovered renal cysts in pediatric patients.

Abdom Radiol (NY) 2019 Apr 10. Epub 2019 Apr 10.

Department of Radiology, Massachusetts General Hospital and Harvard Medical School, 55 Fruit Street, Boston, MA, 02114, USA.

Purpose: To determine the clinical significance of incidentally discovered renal cysts in pediatric patients and identify imaging predictors of autosomal dominant polycystic kidney disease (ADPKD).

Methods: A retrospective search of radiology reports from 2000 to 2016 was performed to identify patients < 18 years old with an imaging exam identifying at least one renal cyst and a ≥ 1-year follow-up renal imaging exam for cyst evaluation and/or diagnosis of ADPKD. Cysts with clear solid mass components were excluded. Read More

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http://dx.doi.org/10.1007/s00261-019-02017-zDOI Listing
April 2019
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Early Urinary Biomarkers in Pediatric Autosomal Dominant Polycystic Kidney Disease (ADPKD): No Evidence in the Interest of Urinary Neutrophil Gelatinase-Associated Lipocalin (uNGAL).

Front Pediatr 2019 22;7:88. Epub 2019 Mar 22.

Pediatric Nephrology Unit, Department of Pediatrics, Children's Hospital, Geneva University Hospital, Geneva, Switzerland.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is increasingly diagnosed during childhood by the presence of renal cysts in patients with a positive familial history. No curative treatment is available and early detection and diagnosis confronts pediatricians with the lack of early markers to decide whether to introduce renal-protective agents and prevent the progression of renal failure. Neutrophil Gelatinase-Associated Lipocalin (NGAL) is a tubular protein that has been recently proposed as an early biomarker of renal impairment in the ADPKD adult population. Read More

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http://dx.doi.org/10.3389/fped.2019.00088DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6439434PMC
March 2019
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CT of Kidney Volume in Autosomal Dominant Polycystic Kidney Disease: Accuracy, Reproducibility, and Radiation Dose.

Radiology 2019 Apr 9:181830. Epub 2019 Apr 9.

From the Division of Nephrology (M.U.B., T.W.Y., A.L.), Department of Radiology (C.J.H., H.S.), and Centre for Heart Lung Innovation (D.M.V.), University of British Columbia, #700 - 1380 Burrard St, Vancouver, BC, Canada V6Z 2H3; and British Columbia Provincial Renal Agency, Vancouver, Canada (M.U.B., A.R., A.L.).

Background Total kidney volume (TKV) assessment is valuable in autosomal dominant polycystic kidney disease (ADPKD) but the reference standard method of MRI planimetry requires access to MRI and time-consuming interpretation. Purpose To determine whether accurate TKV measurements comparable to the resource-intensive reference standard of MRI planimetry can be obtained by using alternate methods including dose-reducing CT protocols and time-saving measurement equations. Materials and Methods In this prospective study conducted September 2016 to June 2017, adult participants with ADPKD underwent one MRI and two CT examinations. Read More

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http://dx.doi.org/10.1148/radiol.2019181830DOI Listing
April 2019
2 Reads

Prostatic cyst in autosomal dominant polycystic kidney disease: unusual association.

BMJ Case Rep 2019 Apr 5;12(4). Epub 2019 Apr 5.

Department of Nephrology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Prostate cyst, as an extrarenal manifestation in patients with autosomal dominant polycystic kidney disease, although infrequent, nevertheless goes beyond tenuous concomitance and may rarely contribute to recurrent urinary tract infection or outflow obstruction and mostly remains asymptomatic. In this context, we report a case of incidentally detected, an asymptomatic prostatic cyst in a patient of autosomal dominant polycystic kidney disease. Read More

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http://dx.doi.org/10.1136/bcr-2018-228617DOI Listing
April 2019
2 Reads

ATP release into ADPKD cysts via pannexin-1/P2X7 channels decreases ENaC activity.

Biochem Biophys Res Commun 2019 May 2;513(1):166-171. Epub 2019 Apr 2.

Division of Hypertension and Vascular Research, Henry Ford Health System, Detroit, MI, USA. Electronic address:

Genetic predisposition is necessary for polycystic kidney disease (PKD) initiation, although there are other, incompletely identified downstream processes that are required for cyst growth. Their characterization may provide a unique opportunity for clinical interventions. One of the poorly studied phenomena in PKD is high ATP content in cysts. Read More

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http://dx.doi.org/10.1016/j.bbrc.2019.03.177DOI Listing
May 2019
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Octreotide-LAR in later-stage autosomal dominant polycystic kidney disease (ALADIN 2): A randomized, double-blind, placebo-controlled, multicenter trial.

PLoS Med 2019 Apr 5;16(4):e1002777. Epub 2019 Apr 5.

Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Bergamo, Italy.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent genetically determined renal disease. In affected patients, renal function may progressively decline up to end-stage renal disease (ESRD), and approximately 10% of those with ESRD are affected by ADPKD. The somatostatin analog octreotide long-acting release (octreotide-LAR) slows renal function deterioration in patients in early stages of the disease. Read More

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http://dx.doi.org/10.1371/journal.pmed.1002777DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450618PMC
April 2019
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Structure and function of polycystins: insights into polycystic kidney disease.

Nat Rev Nephrol 2019 Apr 4. Epub 2019 Apr 4.

Université Côte d'Azur, Centre National de la Recherche Scientifique, Institut National de la Santé et de la Recherche Médicale, Institut de Pharmacologie Moléculaire et Cellulaire, Labex ICST, Valbonne, France.

Mutations in the polycystins PC1 or PC2 cause autosomal dominant polycystic kidney disease (ADPKD), which is characterized by the formation of fluid-filled renal cysts that disrupt renal architecture and function, ultimately leading to kidney failure in the majority of patients. Although the genetic basis of ADPKD is now well established, the physiological function of polycystins remains obscure and a matter of intense debate. The structural determination of both the homomeric PC2 and heteromeric PC1-PC2 complexes, as well as the electrophysiological characterization of PC2 in the primary cilium of renal epithelial cells, provided new valuable insights into the mechanisms of ADPKD pathogenesis. Read More

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http://www.nature.com/articles/s41581-019-0143-6
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http://dx.doi.org/10.1038/s41581-019-0143-6DOI Listing
April 2019
5 Reads

Bioelectrical impedance analysis as a nutritional assessment tool in Autosomal Dominant Polycystic Kidney Disease.

PLoS One 2019 4;14(4):e0214912. Epub 2019 Apr 4.

Department of Internal Medicine, Seoul National University Hospital, Seoul, Korea.

Objective: Autosomal dominant polycystic kidney disease (ADPKD) patients with massive organomegaly suffer from pressure-related complications including malnutrition. In this study, we analyzed the efficacy of segmental bioelectrical impedance analysis (BIA) for objective and quantitative nutritional assessment in ADPKD patients.

Design And Methods: We conducted a cross-sectional study, to evaluate the clinical utility of segmental BIA for assessing the nutritional status of ADPKD patients. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0214912PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449065PMC
April 2019
2 Reads

Serum klotho is inversely associated with metabolic syndrome in chronic kidney disease: results from the KNOW-CKD study.

BMC Nephrol 2019 Apr 3;20(1):119. Epub 2019 Apr 3.

Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, 101 Daehak-Ro, Jongno-Gu, Seoul, 03080, Korea.

Background: Metabolic syndrome (MS) is prevalent in chronic kidney disease (CKD). Klotho, a protein linked to aging, is closely associated with CKD. Each component of MS and klotho has an association. Read More

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http://dx.doi.org/10.1186/s12882-019-1297-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6446407PMC
April 2019
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In Vivo Imaging of Small Molecular Weight Peptides for Targeted Renal Drug Delivery: A Study in Normal and Polycystic Kidney Diseased Mice.

J Pharmacol Exp Ther 2019 Apr 1. Epub 2019 Apr 1.

GlaxoSmithKline

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a leading monogenetic cause of end stage renal disease (ESRD) with limited therapeutic repertoire. A targeted drug delivery strategy that directs a small molecule to renal niches around cysts could increase safety margins of agents that slow the progression of ADPKD but are poorly tolerated due to extra-renal toxicity. Herein, we determined whether previously characterized lysine- and glutamic acid-based, megalin-binding peptides can achieve renal specific localization in the Juvenile Cystic Kidney (JCK) mouse model of polycystic kidney disease and if the distribution is altered compared to control mice. Read More

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http://dx.doi.org/10.1124/jpet.119.257022DOI Listing
April 2019
5 Reads

A PKD1L3 splice variant in taste buds is not cleaved at the G protein-coupled receptor proteolytic site.

Biochem Biophys Res Commun 2019 May 27;512(4):812-818. Epub 2019 Mar 27.

Department of Biological Sciences, St. John's University, 8000 Utopia Parkway, Queens, New York, 11439, USA. Electronic address:

Mutations in polycystin proteins PKD1 and TRPP2 lead to autosomal dominant polycystic kidney disease. These two proteins form a receptor-ion channel complex on primary cilia. PKD1 undergoes an autoproteolysis at the N terminal G-protein-coupled receptor proteolytic site (GPS), which is essential for the function of PKD1. Read More

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http://dx.doi.org/10.1016/j.bbrc.2019.03.099DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467730PMC
May 2019
4 Reads

Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease.

Hum Reprod 2019 Mar 30. Epub 2019 Mar 30.

Centre for Medical Genetics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.

Study Question: What are the factors influencing the success rate for couples undergoing preimplantation genetic testing (PGT) for polycystic kidney disease (PKD)?

Summary Answer: In our study cohort, the live birth delivery rate is significantly associated with female age while the male infertility accompanying autosomal dominant PKD (ADPKD) does not substantially affect the clinical outcome.

What Is Known Already: While women with ADPKD have no specific fertility problems, male ADPKD patients may present with reproductive system abnormalities and infertility.

Study Design, Size, Duration: This retrospective cohort study involves 91 PGT cycles for PKD for 43 couples (33 couples for PKD1, 2 couples for PKD2 and 8 couples for autosomal recessive PKD (ARPKD)) from January 2005 until December 2016 with follow-up of transfers until end of 2017. Read More

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http://dx.doi.org/10.1093/humrep/dez027DOI Listing
March 2019
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Long-term trajectory of kidney function in autosomal-dominant polycystic kidney disease.

Kidney Int 2019 Mar 4. Epub 2019 Mar 4.

Legacy Good Samaritan Hospital, Portland, Oregon, USA.

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by cyst and kidney growth, which is hypothesized to cause loss of functioning renal mass and eventually end-stage kidney disease. However, the time course of decline in glomerular filtration rate (GFR) is poorly defined. The Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease study is a 14-year observational cohort study of 241 adults with ADPKD. Read More

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http://dx.doi.org/10.1016/j.kint.2018.12.023DOI Listing
March 2019
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Novel increasing dose regimen of tolvaptan for autosomal dominant polycystic kidney disease in patient with low tolerability.

Nephrology (Carlton) 2018 Aug;23(8):798-799

Department of Metabolism, Endocrinology, and Molecular Medicine, Osaka City University Graduate School of Medicine, Osaka, Japan.

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http://dx.doi.org/10.1111/nep.13196DOI Listing
August 2018
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Spinal Anesthesia for Renal Transplantation in Lung Resected Patient: A Case Report.

Tanaffos 2018 Mar;17(3):207-210

Department of Anesthesiology, Loghman Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Renal transplantation is among the definitive therapies for treatment of patients with "End-Stage Renal Disease" (ESRD). Proper anesthesia should be considered in patients who undergo renal transplantation. On the other hand, anesthesia in patients with single lung is an ever challenging issue. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6428382PMC
March 2018
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Oxalosis Associated With High-Dose Vitamin C Ingestion in a Peritoneal Dialysis Patient.

Am J Kidney Dis 2019 Mar 22. Epub 2019 Mar 22.

Division of Nephrology and Hypertension; Mayo Clinic; The Rare Kidney Stone Consortium; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN. Electronic address:

We report a case of systemic oxalosis involving the eyes and joints due to long-term use of high-dose vitamin C in a patient receiving maintenance peritoneal dialysis (PD). This 76-year-old woman with autosomal dominant polycystic kidney disease underwent living unrelated kidney transplantation 10 years earlier. The transplant failed 6 months before presentation, and she initiated hemodialysis therapy before transitioning to PD therapy 4 months later. Read More

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http://dx.doi.org/10.1053/j.ajkd.2019.01.022DOI Listing
March 2019
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Long-term Tolvaptan Treatment of Autosomal Dominant Polycystic Kidney Disease in Korea.

Electrolyte Blood Press 2018 Dec 31;16(2):23-26. Epub 2018 Dec 31.

Department of Internal Medicine, Chonnam National University Medical School, Gwangju, Korea.

A 22-year-old male patient was diagnosed with autosomal dominant polycystic kidney disease (ADPKD). He received conservative treatment with an angiotensin-converting enzyme inhibitor. Two years later, oral therapy, consisting of 60 mg tolvaptan per day, was initiated. Read More

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https://synapse.koreamed.org/DOIx.php?id=10.5049/EBP.2018.16
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http://dx.doi.org/10.5049/EBP.2018.16.2.23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6414314PMC
December 2018
6 Reads

Plasma copeptin levels predict disease progression and tolvaptan efficacy in autosomal dominant polycystic kidney disease.

Kidney Int 2019 Mar 9. Epub 2019 Mar 9.

Institute of Physiology, University of Zurich, Zurich, Switzerland; and Division of Nephrology, Université Catholique de Louvain, Brussels, Belgium.

In the TEMPO 3:4 Trial, treatment with tolvaptan, a vasopressin V2 receptor antagonist, slowed the increase in total kidney volume and decline in estimated glomerular filtration rate (eGFR) in autosomal dominant polycystic kidney disease (ADPKD). We investigated whether plasma copeptin levels, a marker of plasma vasopressin, are associated with disease progression, and whether pre-treatment copeptin and treatment-induced change in copeptin are associated with tolvaptan treatment efficacy. This post hoc analysis included 1,280 TEMPO 3:4 participants (aged 18-50 years, estimated creatinine clearance ≥60 ml/min and total kidney volume ≥750 mL) who had plasma samples available at baseline for measurement of copeptin using an automated immunofluorescence assay. Read More

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http://dx.doi.org/10.1016/j.kint.2018.11.044DOI Listing
March 2019
3 Reads

Refractory ascites and graft dysfunction in early renal transplantation.

J Bras Nefrol 2019 Mar 18. Epub 2019 Mar 18.

Serviço de Nefrologia e Transplantação Renal do Centro Hospitalar do Porto, Porto, Portugal.

The occurrence of ascites after Renal Transplant (RT) is infrequent, and may be a consequence of surgical or medical complications. Case report: 61 year-old, male, history of arterial hypertension, tongue carcinoma and alcoholic habits 12-20g/day. He had chronic kidney disease secondary to autosomal dominant polycystic kidney disease, without hepatic polycystic disease. Read More

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http://dx.doi.org/10.1590/2175-8239-JBN-2018-0175DOI Listing
March 2019
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A role for polycystin-1 and polycystin-2 in neural progenitor cell differentiation.

Cell Mol Life Sci 2019 Mar 20. Epub 2019 Mar 20.

Institute of Molecular and Cellular Anatomy, Ulm University, Albert-Einstein-Allee 11, 89081, Ulm, Germany.

Polycystin-1 (PC1) and polycystin-2 (PC2) are transmembrane proteins encoded by the Pkd1 and Pkd2 genes, respectively. Mutations in these genes are causative for the development of autosomal-dominant polycystic kidney disease. A prominent feature of this disease is an unbalanced cell proliferation. Read More

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http://dx.doi.org/10.1007/s00018-019-03072-xDOI Listing
March 2019
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The TRPP2-dependent channel of renal primary cilia also requires TRPM3.

PLoS One 2019 18;14(3):e0214053. Epub 2019 Mar 18.

Department of Pharmacology and Systems Physiology, University of Cincinnati, Cincinnati, Ohio, United States of America.

Primary cilia of renal epithelial cells express several members of the transient receptor potential (TRP) class of cation-conducting channel, including TRPC1, TRPM3, TRPM4, TRPP2, and TRPV4. Some cases of autosomal dominant polycystic kidney disease (ADPKD) are caused by defects in TRPP2 (also called polycystin-2, PC2, or PKD2). A large-conductance, TRPP2-dependent channel in renal cilia has been well described, but it is not known whether this channel includes any other protein subunits. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0214053PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422334PMC
March 2019
2 Reads

Caroli Disease Revisited: A Case of a Kidney Transplant Patient With Autosomal Polycystic Kidney Disease and Recurrent Episodes of Cholangitis.

Transplant Proc 2019 Mar 3;51(2):541-544. Epub 2019 Jan 3.

Division of Nephrology and Transplantation, Department of Medicine, University of Vermont Medical Center and Larner College of Medicine, Burlington, Vermont, USA. Electronic address:

Polycystic kidney disease (PKD) is a genetic disorder leading to end-stage renal disease more commonly in the fourth to sixth decades of life. Cyst formation in the kidneys and other organs such as the liver and pancreas is the main characteristic of this disease. A significant number of patients with PKD undergo kidney transplantation and receive significant immunosuppression, predisposing them to comorbidities such as infections and malignancies. Read More

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http://dx.doi.org/10.1016/j.transproceed.2018.12.025DOI Listing
March 2019
2 Reads

Renal expression of JAK2 is high in polycystic kidney disease and its inhibition reduces cystogenesis.

Sci Rep 2019 Mar 14;9(1):4491. Epub 2019 Mar 14.

Academic Nephrology Unit, Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield, Sheffield, S10 2RX, United Kingdom.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common renal genetic disorder, however it still lacks a cure. The discovery of new therapies heavily depends on understanding key signalling pathways that lead to ADPKD. The JAnus Kinase and Signal Transducers and Activators of Transcription (JAK/STAT) pathway is aberrantly activated and contributes to ADPKD pathogenesis via enhancing epithelial proliferation. Read More

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http://www.nature.com/articles/s41598-019-41106-3
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http://dx.doi.org/10.1038/s41598-019-41106-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418191PMC
March 2019
4 Reads

[Management of a patient with polycystic kidney disease].

Authors:
Dominique Joly

Rev Prat 2018 May;68(5):564-569

Service de néphrologie, hôpital Necker-Enfants malades, AP-HP, Paris, France.

Management of a patient with polycystic kidney disease. In patients with autosomal dominant polycystic kidney disease, the nephrologist is typically asked to treat hypertension, urological complications (pain, stones, infections), progressive renal failure and its consequences, and finally initiate renal replacement therapy (hemodialysis, peritoneal dialysis, kidney transplant) for those reaching end-stage renal failure, most often in the second part of their life. We should now consider a more modern vision: in at risk subjects, an early diagnosis (around 20 years of age) will help to provide dietary advice (water intake, salt and protein intake), detect hypertension, fight against cardiovascular risk factors, detect intracranial aneurysms; in women, to give advice on contraception, pregnancies, and to detect massive polycystic liver disease; finally, to discuss advances in cystic blocking research and to propose the first of these, tolvaptan, to eligible patients. Read More

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May 2018
6 Reads

[Polycystic kidney disease: diagnosis and progressive profile, prognostic elements].

Authors:
Yannick Le Meur

Rev Prat 2018 May;68(5):559-563

Service de néphrologie, CHU La Cavale blanche, université de Brest, Brest, France.

Polycystic kidney disease: diagnosis, progressive profile, prognostic elements. Autosomal dominant polycystic kidney disease can lead to end-stage renal disease but is also complicated by infectious, digestive, cardiovascular and hepatic problems. The diagnosis is easy in the presence of a family history, but its exclusion is sometimes difficult. Read More

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[Polycystic kidney disease].

Rev Prat 2018 May;68(5):556-558

Service de néphrologie, hémodialyse et transplantation rénale, hôpital la Cavale Blanche, CHRU de Brest, Brest, France.

Mechanisms and genetics in polycystic kidney disease. Mutations of PKD1 or PKD2 are identified in more than 90% of the patients affected by Autosomal Dominant Polycystic Kidney Disease (ADPKD). The severity of the renal disease is strongly influenced by the gene involved and the mutation type; the combination of genetic and clinical factors allows stratifying the risk to develop end-stage renal disease. Read More

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May 2018
3 Reads

PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease.

Sci Rep 2019 Mar 11;9(1):4141. Epub 2019 Mar 11.

Division of Nephrology and Hypertension, Mayo Clinic, Rochester, USA.

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited monogenic renal disease characterised by the accumulation of clusters of fluid-filled cysts in the kidneys and is caused by mutations in PKD1 or PKD2 genes. ADPKD genetic diagnosis is complicated by PKD1 pseudogenes located proximal to the original gene with a high degree of homology. The next generation sequencing (NGS) technology including whole exome sequencing (WES) and whole genome sequencing (WGS), is becoming more affordable and its use in the detection of ADPKD mutations for diagnostic and research purposes more widespread. Read More

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http://dx.doi.org/10.1038/s41598-019-40761-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6412018PMC
March 2019
1 Read
5.078 Impact Factor

Autosomal dominant polycystic kidney disease.

Lancet 2019 03 25;393(10174):919-935. Epub 2019 Feb 25.

Division of Nephrology, Department of Medicine, Tufts Medical Center, Boston, MA, USA. Electronic address:

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease and one of the most common causes of end-stage kidney disease. Multiple clinical manifestations, such as enlarged kidneys filled with growing cysts, hypertension, and multiple extrarenal complications, including liver cysts, intracranial aneurysms, and cardiac valvular disease, show that ADPKD is a systemic disorder. New information derived from clinical research using molecular genetics and advanced imaging techniques has provided enhanced tools for assessing the diagnosis and prognosis for individual patients and their families. Read More

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http://dx.doi.org/10.1016/S0140-6736(18)32782-XDOI Listing
March 2019
1 Read
45.217 Impact Factor

Fibroblast Primary Cilia are Required for Cardiac Fibrosis.

Circulation 2019 Mar 1. Epub 2019 Mar 1.

Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX.

Background: The primary cilium is a singular cellular structure that extends from the surface of many cell types and plays crucial roles in vertebrate development, including that of the heart. Whereas ciliated cells have been described in developing heart, a role for primary cilia in adult heart has not been reported. This, coupled with the fact that mutations in genes coding for multiple ciliary proteins underlie polycystic kidney disease, a disorder with numerous cardiovascular manifestations, prompted us to identify cells in adult heart harboring a primary cilium and to determine whether primary cilia play a role in disease-related remodeling. Read More

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http://dx.doi.org/10.1161/CIRCULATIONAHA.117.028752DOI Listing
March 2019
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Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.

J Hum Genet 2019 May 28;64(5):409-419. Epub 2019 Feb 28.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) accounts for 2.6% of the patients with chronic kidney disease in India. ADPKD is caused by pathogenic variants in either PKD1 or PKD2 gene. Read More

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http://dx.doi.org/10.1038/s10038-019-0582-8DOI Listing
May 2019
1 Read

Microscopy-Based Automated Live Cell Screening for Small Molecules That Affect Ciliation.

Front Genet 2019 12;10:75. Epub 2019 Feb 12.

Molecular Therapeutics Program, Fox Chase Cancer Center, Philadelphia, PA, United States.

The primary monocilium, or cilium, is a single antenna-like organelle that protrudes from the surface of most mammalian cell types, and serves as a signaling hub. Mutations of cilia-associated genes result in severe genetic disorders termed ciliopathies. Among these, the most common is autosomal dominant polycystic kidney disease (ADPKD); less common genetic diseases include Bardet-Biedl syndrome, Joubert syndrome, nephronophthisis, and others. Read More

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http://dx.doi.org/10.3389/fgene.2019.00075DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6379280PMC
February 2019
2 Reads

Renal cyst evolution in childhood: a contemporary observational study.

J Pediatr Urol 2019 Feb 1. Epub 2019 Feb 1.

Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada; Division of Urology, Department of Surgery, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

Introduction: Children with renal cysts often undergo ultrasound (US) monitoring to identify malignant transformation or polycystic kidney disease (PKD). However, the utility of ongoing surveillance is uncertain.

Objective: The objective of this study was to assess the natural history of simple or minimally complex cysts and the proportion of progression to autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD), or malignancy. Read More

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http://dx.doi.org/10.1016/j.jpurol.2019.01.006DOI Listing
February 2019
2 Reads

Aortic Dissection Associated with Autosomal Dominant Polycystic Kidney Disease

Heart Surg Forum 2019 02 6;22(1):E032-E034. Epub 2019 Feb 6.

Department of Cardiovascular Surgery, St. Mary's Hospital, Kurume, Japan.

A 78-year-old man who had been diagnosed with autosomal dominant polycystic kidney disease (ADPKD) and hypertension presented with chest pain. His family history was positive for ADPKD. Chest computed tomography (CT) revealed a type A aortic dissection with thrombotic occlusion of a false lumen and an ulcer-like projection in the ascending aorta, an aneurysm of the ascending aorta, and pericardial effusion. Read More

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http://dx.doi.org/10.1532/hsf.2027DOI Listing
February 2019
2 Reads

Clinical study on autosomal dominant polycystic kidney disease among North Tunisians.

Saudi J Kidney Dis Transpl 2019 Jan-Feb;30(1):175-184

Department of Medicine A, Charles Nicolle Hospital, Tunis, Tunisia.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease, which usually manifests in adulthood. It is characterized by the development of multiple cysts in the kidneys and many other extrarenal manifestations. We aimed to determine the factors that contribute to the progression of ADPKD to end-stage renal disease (ESRD). Read More

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February 2019
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Mineralocorticoid Antagonism and Vascular Function in Early Autosomal Dominant Polycystic Kidney Disease: A Randomized Controlled Trial.

Am J Kidney Dis 2019 Feb 22. Epub 2019 Feb 22.

Division of Renal Diseases and Hypertension, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora.

Rationale & Objective: Vascular dysfunction, characterized by impaired vascular endothelial function and increased large-elastic artery stiffness, is evident early in autosomal dominant polycystic kidney disease (ADPKD) and is an important predictor of cardiovascular events and mortality. Aldosterone excess has been implicated in the development of endothelial dysfunction and arterial stiffness, in part by causing increased oxidative stress and inflammation. We hypothesized that aldosterone antagonism would reduce vascular dysfunction in patients with early-stage ADPKD. Read More

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http://dx.doi.org/10.1053/j.ajkd.2018.12.037DOI Listing
February 2019
2 Reads
5.900 Impact Factor

Plasma metabolites and lipids associate with kidney function and kidney volume in hypertensive ADPKD patients early in the disease course.

BMC Nephrol 2019 Feb 25;20(1):66. Epub 2019 Feb 25.

Division of Nephrology, Department of Internal Medicine, University of California, Genome and Biomedical Sciences Building, Room 6311, 451 Health Sciences Dr, Davis, CA, 95616, USA.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease and is characterized by gradual cyst growth and expansion, increase in kidney volume with an ultimate decline in kidney function leading to end stage renal disease (ESRD). Given the decades long period of stable kidney function while cyst growth occurs, it is important to identify those patients who will progress to ESRD. Recent data from our and other laboratories have demonstrated that metabolic reprogramming may play a key role in cystic epithelial proliferation resulting in cyst growth in ADPKD. Read More

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http://dx.doi.org/10.1186/s12882-019-1249-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6388487PMC
February 2019
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Vasopressin-aquaporin-2 pathway: recent advances in understanding water balance disorders.

F1000Res 2019 4;8. Epub 2019 Feb 4.

Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari, Italy, 70125, Italy.

The alteration of water balance and related disorders has emerged as being strictly linked to the state of activation of the vasopressin-aquaporin-2 (vasopressin-AQP2) pathway. The lack of responsiveness of the kidney to the vasopressin action impairs its ability to concentrate the urine, resulting in polyuria, polydipsia, and risk of severe dehydration for patients. Conversely, non-osmotic release of vasopressin is associated with an increase in water permeability in the renal collecting duct, producing water retention and increasing the circulatory blood volume. Read More

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http://dx.doi.org/10.12688/f1000research.16654.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6364380PMC
February 2019
1 Read

Tulp3 Is a Ciliary Trafficking Gene that Regulates Polycystic Kidney Disease.

Curr Biol 2019 Mar 21;29(5):803-812.e5. Epub 2019 Feb 21.

Vertebrate Developmental Biology Program, Department of Pediatrics, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520, USA. Electronic address:

The primary cilium is an organelle essential for cell signaling pathways. One of the most common human genetic diseases is autosomal dominant polycystic kidney disease (ADPKD), which is caused by mutations in the PKD1 or PKD2 genes that encode Polycystin 1 and 2 (PC1/2), transmembrane proteins that translocate to the cilium. Mutations in genes that disrupt ciliogenesis also cause kidney cysts as part of a "ciliopathic" disease spectrum. Read More

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http://dx.doi.org/10.1016/j.cub.2019.01.054DOI Listing
March 2019
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GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease.

Front Genet 2019 7;10:44. Epub 2019 Feb 7.

Department of Pediatrics, Texas Tech University Health Sciences Center, Amarillo, TX, United States.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) typically results from a mutation in the PKD1 and PKD2 genes, which code for polycystin-1 (PC1) and polycystin-2 (PC2), respectively. Mutations in these genes promote renal cystic dysplasia and are a significant cause of End-Stage Kidney Disease (ESKD). Polycystic kidney disease-3 (PKD3), another form of ADPKD, is caused by mutations in glucosidase II alpha subunit (GANAB) gene and present in mid- and late adulthood. Read More

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http://dx.doi.org/10.3389/fgene.2019.00044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375066PMC
February 2019
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C-reactive protein as a prognostic risk factor for loss of arteriovenous fistula patency in hemodialyzed patients.

J Vasc Surg 2019 Feb 18. Epub 2019 Feb 18.

Department of Hemodialysis, Arad Municipal Clinical Emergency Hospital, Arad, Romania; Department of Internal Medicine, Faculty of Medicine, "Vasile Goldis" Western University of Arad, Arad, Romania; B. Braun Avitum Dialysis Center Arad, Arad, Romania.

Background: Inflammation is a cardiovascular risk factor in hemodialysis patients, but its influence on vascular access patency is still debatable. Our prospective study investigated this issue.

Methods: A total of 258 patients receiving an arteriovenous fistula (AVF) between 2006 and 2016 at the Municipal Hospital Arad were included. Read More

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http://dx.doi.org/10.1016/j.jvs.2018.10.100DOI Listing
February 2019
2 Reads

Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis.

Hum Genet 2019 Mar 18;138(3):211-219. Epub 2019 Feb 18.

Division of Nephrology, Department of Medicine, Harvard Medical School, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA.

Nephrolithiasis (NL) affects 1 in 11 individuals worldwide and causes significant patient morbidity. We previously demonstrated a genetic cause of NL can be identified in 11-29% of pre-dominantly American and European stone formers. Pakistan, which resides within the Afro-Asian stone belt, has a high prevalence of nephrolithiasis (12%) as well as high rate of consanguinity (> 50%). Read More

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http://dx.doi.org/10.1007/s00439-019-01978-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6426152PMC
March 2019
2 Reads
4.824 Impact Factor