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Polycystic kidney disease

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https://www.readbyqxmd.com/read/29775233/dialysis-modality-and-mortality-in-polycystic-kidney-disease
#1
Chenchen Zhou, Yaodong Gu, Changlin Mei, Bing Dai, Yi Wang, Cheng Xue
INTRODUCTION: Identifying the appropriate modality between hemodialysis (HD) and peritoneal dialysis (PD) is an unresolved issue in polycystic kidney disease (PKD) patients. This study aims to illustrate whether the mortality and survival are different among individuals receiving HD comparing PD. METHODS: We searched PubMed, EMBASE, and China National Knowledge Infrastructure about cohort studies involving PKD patients with end stage renal disease and comparing HD with PD...
May 18, 2018: Hemodialysis International
https://www.readbyqxmd.com/read/29774463/early-cardiovascular-manifestations-in-children-and-adolescents-with-autosomal-dominant-polycystic-kidney-disease-a-single-center-study
#2
Vasiliki Karava, Cherine Benzouid, Julien Hogan, Claire Dossier, André Pierre Denjean, Georges Deschênes
BACKGROUND: This study aims to describe the cardiovascular manifestations in children with autosomal dominant polycystic kidney disease (ADPKD) and detect their relation with kidney disease and type of gene mutation. METHODS: Twenty-one patients (7 to 19 years old) were included. Cardiovascular evaluation involved blood pressure (BP), indexed left ventricular mass (LVMI), pulse wave velocity (PWV), and carotid intima media thickness (cIMT) measurement. Patients were classified according to percentile reference values of these parameters in healthy children...
May 17, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29770338/basic-fibroblast-growth-factor-fused-with-tandem-collagen-binding-domains-from-clostridium-histolyticum-collagenase-colg-increases-bone-formation
#3
Hiroyuki Sekiguchi, Kentaro Uchida, Osamu Matsushita, Gen Inoue, Nozomu Nishi, Ryo Masuda, Nana Hamamoto, Takaki Koide, Shintaro Shoji, Masashi Takaso
Basic fibroblast growth factor 2 (bFGF) accelerates bone formation during fracture healing. Because the efficacy of bFGF decreases rapidly following its diffusion from fracture sites, however, repeated dosing is required to ensure a sustained therapeutic effect. We previously developed a fusion protein comprising bFGF, a polycystic kidney disease domain (PKD; s2b), and collagen-binding domain (CBD; s3) sourced from the Clostridium histolyticum class II collagenase, ColH, and reported that the combination of this fusion protein with a collagen-like peptide, poly(Pro-Hyp-Gly)10 , induced mesenchymal cell proliferation and callus formation at fracture sites...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29767557/polycystin-1-dysfunction-impairs-electrolyte-and-water-handling-in-a-renal-pre-cystic-mouse-model-for-adpkd
#4
Eric H J Verschuren, Sami G Mohammed, Wouter N Leonhard, Caro Overmars-Bos, Kimberly A M Veraar, Joost G J Hoenderop, René J M Bindels, Dorien J M Peters, Francisco J Arjona
The PKD1 gene encodes polycystin-1 (PC1), a mechanosensor triggering intracellular responses upon urinary flow sensing in kidney tubular cells. Mutations in PKD1 lead to autosomal dominant polycystic kidney disease (ADPKD). The involvement of PC1 in renal electrolyte handling remains unknown since renal electrolyte physiology in ADPKD patients has only been characterized in cystic ADPKD. We thus studied the renal electrolyte handling in inducible kidney-specific Pkd1 knockout (iKsp-Pkd1-/-) mice manifesting a pre-cystic phenotype...
May 16, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29767399/a-decreased-soluble-klotho-level-with-normal-egfr-fgf23-serum-phosphate-and-fep-in-an-adpkd-patient-with-enlarged-kidneys-due-to-multiple-cysts
#5
Takahiro Kanai, Kazuhiro Shiizaki, Hiroyuki Betsui, Jun Aoyagi, Takanori Yamagata
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder. ADPKD is characterized clinically by the presence of multiple bilateral renal cysts that lead to chronic renal failure. The cysts evolve from renal tubular epithelial cells that express the Klotho gene. Notably, Klotho acts as a co-receptor for fibroblast growth factor 23 (FGF23); in this context, it induces phosphaturia and maintains serum phosphate at a normal level. Many reports have shown that decreases in the soluble Klotho level and increases in the FGF23 level are associated with glomerular filtration rate (GFR) decline, but a recent study observed these changes in patient with normal eGFR...
May 16, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29763910/different-relevance-of-peripheral-central-or-nighttime-blood-pressure-measurements-in-the-prediction-of-chronic-kidney-disease-progression-in-patients-with-mild-or-no-proteinuria
#6
Piotr Kuczera, Katarzyna Kwiecień, Marcin Adamczak, Teresa Bączkowska, Jolanta Gozdowska, Katarzyna Madziarska, Hanna Augustyniak-Bartosik, Marian Klinger, Magdalena Durlik, Eberhard Ritz, Andrzej Wiecek
BACKGROUND/AIMS: Arterial hypertension is one of the leading factors aggravating the course of chronic kidney disease (CKD). It seems that the novel parameters used in the assessment of the blood pressure (BP) load (i.e. central blood pressure, nighttime blood pressure) may be more precise in predicting the cardiovascular risk and the progression of CKD in comparison with the traditional peripheral blood pressure measurements in the office conditions. The aim of the study was to assess the impact of the central, or nighttime blood pressure on the progression of CKD in patients with mild or no-proteinuria (autosomal, dominant polycystic kidney disease or IgA nephropathy)...
May 10, 2018: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/29753540/risk-factors-for-early-dialysis-dependency-in-autosomal-recessive-polycystic-kidney-disease
#7
Kathrin Burgmaier, Kevin Kunzmann, Gema Ariceta, Carsten Bergmann, Anja Katrin Buescher, Mathias Burgmaier, Ismail Dursun, Ali Duzova, Loai Eid, Florian Erger, Markus Feldkoetter, Matthias Galiano, Michaela Geßner, Heike Goebel, Ibrahim Gokce, Dieter Haffner, Nakysa Hooman, Bernd Hoppe, Augustina Jankauskiene, Guenter Klaus, Jens König, Mieczyslaw Litwin, Laura Massella, Djalila Mekahli, Engin Melek, Sevgi Mir, Lars Pape, Larisa Prikhodina, Bruno Ranchin, Raphael Schild, Tomas Seeman, Lale Sever, Rukshana Shroff, Neveen A Soliman, Stella Stabouli, Malgorzata Stanczyk, Yilmaz Tabel, Katarzyna Taranta-Janusz, Sara Testa, Julia Thumfart, Rezan Topaloglu, Lutz Thorsten Weber, Dorota Wicher, Elke Wühl, Simone Wygoda, Alev Yilmaz, Katarzyna Zachwieja, Ilona Zagozdzon, Klaus Zerres, Jörg Dötsch, Franz Schaefer, Max Christoph Liebau
OBJECTIVE: To identify prenatal, perinatal, and postnatal risk factors for dialysis within the first year of life in children with autosomal recessive polycystic kidney disease (ARPKD) as a basis for parental counseling after prenatal and perinatal diagnosis. STUDY DESIGN: A dataset comprising 385 patients from the ARegPKD international registry study was analyzed for potential risk markers for dialysis during the first year of life. RESULTS: Thirty-six out of 385 children (9...
May 9, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29751520/young-adult-polycystic-kidney-disease-is-associated-with-major-cardiovascular-complications
#8
Ya-Wen Chuang, Tung-Min Yu, Shih-Ting Huang, Kuo-Ting Sun, Ying-Chih Lo, Pin-Kuei Fu, Bor-Jen Lee, Cheng-Hsu Chen, Cheng-Li Lin, Chia-Hung Kao
Background: Patients with polycystic kidney disease (PKD) might have a risk of cardiovascular diseases because several cardiovascular risk factors are occasionally associated with PKD patients. Data on the association between PKD and the risk of cardiovascular events, including acute coronary syndrome (ACS), stroke, and congestive heart failure (CHF), are scant. Methods: Patients aged ≥20 years who were newly diagnosed with PKD (International Classification of Diseases, Ninth Revision, Clinical Modification codes 753...
May 3, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29746821/lansoprazole-reduces-renal-cyst-in-polycystic-kidney-disease-via-inhibition-of-cell-proliferation-and-fluid-secretion
#9
Jiriporn Nantavishit, Varanuj Chatsudthipong, Sunhapas Soodvilai
Renal cyst development and expansion in autosomal dominant polycystic kidney disease (ADPKD) is mediated by abnormal cyst-ling cell proliferation and fluid accumulation. Liver X receptor (LXR)-activating ligands suppresses renal cyst enlargement by modulation of cysticfibrosis transmembrane conductance regulator (CFTR)-mediated fluid accumulation. Lansoprazole has been reported as agonist of LXR, and shows an anti-proliferative effect in cancer cells. Here, lansoprazole's pharmacological effect and underlying mechanism on renal cyst development and expansion in in vitro; human ADPKD cyst-lining epithelial cell line and Type I Mardin Darby Canine Kidney (MDCK) cells, and in vivo models was investigated...
May 7, 2018: Biochemical Pharmacology
https://www.readbyqxmd.com/read/29743334/randomised-controlled-trial-of-high-versus-ad-libitum-water-intake-in-patients-with-autosomal-dominant-polycystic-kidney-disease-rationale-and-design-of-the-drink-feasibility-trial
#10
Ragada El-Damanawi, Michael Lee, Tess Harris, Laura B Mader, Simon Bond, Holly Pavey, Richard N Sandford, Ian B Wilkinson, Alison Burrows, Przemyslaw Woznowski, Yoav Ben-Shlomo, Fiona E Karet Frankl, Thomas F Hiemstra
INTRODUCTION: Vasopressin stimulates cyst growth in autosomal dominant polycystic kidney disease (ADPKD) leading to enlarged kidneys, hypertension and renal failure. Vasopressin receptor blockade slows disease progression. Physiological suppression of vasopressin secretion through high water (HW) intake could achieve a similar effect, necessitating a definitive large-scale trial of HW intake in ADPKD. The objective of the DRINK trial is to answer the key design and feasibility questions required to deliver a successful definitive water intake trial...
May 9, 2018: BMJ Open
https://www.readbyqxmd.com/read/29737248/targeted-therapies-for-autosomal-dominant-polycystic-kidney-disease
#11
Cherie Stayner, Darby G Brooke, Michael Bates, Michael R Eccles
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common life-threatening genetic disease in humans, affecting approximately 1 in 500 people. ADPKD is characterized by cyst growth in the kidney leading to progressive parenchymal damage and is the underlying pathology in approximately 10% of patients requiring hemodialysis or transplantation for end-stage kidney disease. The two proteins that are mutated in ADPKD, polycystin-1 and polycystin-2, form a complex located on the primary cilium and the plasma membrane to facilitate calcium ion release in the cell...
May 7, 2018: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/29734148/new-insights-into-cystic-kidney-diseases
#12
Toshio Mochizuki, Shiho Makabe, Yumi Aoyama, Hiroshi Kataoka, Kosaku Nitta
Hereditary cystic kidney diseases are considered as "ciliopathies" caused by abnormalities of the "primary cilia" situated on the tubules. As a result of dysplasia and dysfunction of cilia, formation of cysts occurs at various stages of life. Although occurring at a low incidence, hereditary cystic kidney diseases that develop from the fetal stage to childhood are diverse and are often associated with systemic disorders. The incidence of autosomal dominant polycystic kidney disease, which is the only adult-onset hereditary cystic kidney disease, is the highest among hereditary renal disorders...
2018: Contributions to Nephrology
https://www.readbyqxmd.com/read/29725632/urinary-biomarkers-to-identify-autosomal-dominant-polycystic-kidney-disease-patients-with-a-high-likelihood-of-disease-progression
#13
A Lianne Messchendorp, Esther Meijer, Wendy E Boertien, Gerwin E Engels, Niek F Casteleijn, Edwin M Spithoven, Monique Losekoot, Johannes G M Burgerhof, Dorien J M Peters, Ron T Gansevoort
Introduction: The variable disease course of autosomal dominant polycystic kidney disease (ADPKD) makes it important to develop biomarkers that can predict disease progression, from a patient perspective and to select patients for renoprotective treatment. We therefore investigated whether easy-to-measure urinary biomarkers are associated with disease progression and have additional value over that of conventional risk markers. Methods: At baseline, inflammatory, glomerular, and tubular damage markers were measured in 24-hour urine collections (albumin, IgG, kidney injury molecule-1 (KIM-1), N -acetyl-β-d-glucosaminidase (NAG), β2 microglobulin (β2MG), heart-type fatty acid binding protein (HFABP), macrophage migration inhibitory factor (MIF), neutrophil gelatinase-associated lipocalin (NGAL), and monocyte chemotactic protein-1 (MCP-1)...
March 2018: KI Reports
https://www.readbyqxmd.com/read/29724910/retromer-associates-with-the-cytoplasmic-amino-terminus-of-polycystin-2
#14
Frances C Tilley, Matthew Gallon, Chong Luo, Chris M Danson, Jing Zhou, Peter J Cullen
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic human disease, with around 12.5 million people affected worldwide. ADPKD results from mutations in either PKD1 or PKD2 , which encode the atypical G-protein coupled receptor polycystin-1 (PC1) and the transient receptor potential channel polycystin-2 (PC2) respectively. Although altered intracellular trafficking of PC1 and PC2 appear as an underlying feature of ADPKD, the mechanisms which govern vesicular transport of the polycystins through the biosynthetic and endosomal membrane networks remain to be fully elucidated...
May 3, 2018: Journal of Cell Science
https://www.readbyqxmd.com/read/29723863/epicardial-fat-thickness-in-patients-with-autosomal-dominant-polycystic-kidney-disease
#15
Antonio Concistrè, Luigi Petramala, Gianmarco Scoccia, Susanna Sciomer, Valeria Bisogni, Vincenza Saracino, Gino Iannucci, Silvia Lai, Daniela Mastroluca, Gianluca Iacobellis, Claudio Letizia
INTRODUCTION: Autosomal dominant polycystic kidney disease (ADPKD) is associated with early organ damage such as left ventricular hypertrophy and higher cardiovascular risk when compared to essential hypertension (EH). Epicardial adipose tissue (EAT) is a new cardiovascular risk factor, but its role and correlation with left ventricular mass (LVM) in ADPKD is unknown. AIMS: we sought to investigate whether EAT is higher and related to LVM indexed by body surface area (LVMi) in hypertensive patients with ADPKD compared to those with EH...
May 3, 2018: Cardiorenal Medicine
https://www.readbyqxmd.com/read/29717938/comparison-of-folate-conjugated-rapamycin-versus-unconjugated-rapamycin-in-an-orthologous-mouse-model-of-polycystic-kidney-disease
#16
Kevin R Kipp, Samantha L Kruger, Margaret F Schimmel, Nikki Parker, Jonathan M Shillingford, Christopher P Leamon, Thomas Weimbs
Autosomal-dominant polycystic kidney disease (ADPKD) is a very common genetic disease leading to renal failure. Numerous aberrantly regulated signaling pathways have been identified as promising molecular drug targets for ADPKD therapy. In rodent models, many small-molecule drugs against such targets have proven effective in reducing renal cyst growth. For example, mTOR inhibition with rapamycin greatly ameliorates renal cystic disease in several rodent models. However, clinical trials with mTOR inhibitors were disappointing largely due to the intolerable extra-renal side effects during long-term treatment with these drugs...
May 2, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29716997/long-noncoding-rna-hoxb3os-is-dysregulated-in-autosomal-dominant-polycystic-kidney-disease-and-regulates-mtor-signaling
#17
Karam Aboudehen, Shayan Farahani, Mohammed Kanchwala, Siu Chiu Chan, Svetlana Avdulov, Alan Mickelson, Dayeon Lee, Micah D Gearhart, Vishal Patel, Chao Xing, Peter Igarashi
Autosomal dominant polycystic kidney disease (ADPKD) is a debilitating disease that is characterized by the accumulation of numerous fluid-filled cysts in the kidney. ADPKD is primarily caused by mutations in two genes, PKD1 and PKD2. Long noncoding RNAs (lncRNA) - defined by a length >200 nucleotides and absence of a long open reading frame - have recently emerged as epigenetic regulators of development and disease; however, their involvement in PKD has not been explored previously. Here, we performed deep RNA sequencing to identify lncRNAs that are dysregulated in two orthologous mouse models of ADPKD (kidney-specific Pkd1 and Pkd2 mutant mice)...
May 1, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29716734/the-difficulties-of-pseudo-cushing-s-syndrome-or-non-neoplastic-hypercortisolism
#18
Olivier Chabre
Pseudo-Cushing's syndrome covers different pathological conditions responsible for mild-to-moderate ACTH-dependent hypercortisolism, related not to an ACTH-secreting tumor but rather to CRH and/or AVP hypothalamic secretion through activation of various neural pathways, in patients generally displaying excess central adiposity. It is better termed "non-neoplastic hypercortisolism" (NNH). The main conditions implicated in NNH comprise: neuropsychiatric disorder, alcohol abuse, insulin-resistant obesity, polycystic ovary syndrome, and end-stage kidney disease...
April 28, 2018: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29707627/identifying-barriers-to-preemptive-kidney-transplantation-in-a-living-donor-transplant-cohort
#19
Ryan A Helmick, Colleen L Jay, Brittany A Price, Patrick G Dean, Mark D Stegall
Background: Despite substantial evidence demonstrating clear benefit, rates of preemptive kidney transplantation (PreKTx) remain low in the United States. Our goal was to identify barriers to PreKTx. Methods: Using a telephone-administered questionnaire including questions about barriers, timing of referral, timing of education, we retrospectively studied first living donor kidney transplant recipients (2006-2010) at Mayo Clinic, Rochester, MN. Of 235 patients, 145 (62%) responded to the questionnaire (74 PreKTx and 71 non-PreKTx)...
April 2018: Transplantation Direct
https://www.readbyqxmd.com/read/29706351/monoallelic-mutations-to-dnajb11-cause-atypical-autosomal-dominant-polycystic-kidney-disease
#20
Emilie Cornec-Le Gall, Rory J Olson, Whitney Besse, Christina M Heyer, Vladimir G Gainullin, Jessica M Smith, Marie-Pierre Audrézet, Katharina Hopp, Binu Porath, Beili Shi, Saurabh Baheti, Sarah R Senum, Jennifer Arroyo, Charles D Madsen, Claude Férec, Dominique Joly, François Jouret, Oussamah Fikri-Benbrahim, Christophe Charasse, Jean-Marie Coulibaly, Alan S Yu, Korosh Khalili, York Pei, Stefan Somlo, Yannick Le Meur, Vicente E Torres, Peter C Harris
Autosomal-dominant polycystic kidney disease (ADPKD) is characterized by the progressive development of kidney cysts, often resulting in end-stage renal disease (ESRD). This disorder is genetically heterogeneous with ∼7% of families genetically unresolved. We performed whole-exome sequencing (WES) in two multiplex ADPKD-like pedigrees, and we analyzed a further 591 genetically unresolved, phenotypically similar families by targeted next-generation sequencing of 65 candidate genes. WES identified a DNAJB11 missense variant (p...
May 3, 2018: American Journal of Human Genetics
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