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autosomal dominant polycystic kidney

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https://www.readbyqxmd.com/read/29786190/-identification-of-a-new-mutation-of-the-nphp1-gene
#1
Antonella La Russa, Rosa Anna Cifarelli, Anna Perri, Angelo Saracino, Giovanni Santarsia, Renzo Bonofiglio
Kidney cystic diseases are inherited disorders causing chronic renal failure. According to the genetic defect they are classified as diseases of the primary ciliary complex and uromodulin-associated diseases. Mutations in genes coding for ciliary proteins are the basis of a broad category of genetic diseases, called ciliopathies. To date, three important ciliopathies are known: the autosomal dominant form and the recessive shape of the polycystic kidney and the nephronophthisis (NPHP). Juvenile Nephronophthisis (NPHP) is a progressive renal tubulo-interstitial disorder with a form of autosomal recessive inheritance that progresses inexorably towards terminal renal failure...
May 2018: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/29782307/cutaneous-manifestations-of-tuberous-sclerosis
#2
Mirjana Bakić, Marina Ratković, Branka Gledović, Balsa Vujović, Danilo Radunović, Vera Babić, Vladimir Prelević
Dear Editor, Tuberous sclerosis (TS) is an autosomal dominant multisystem disease, which occurs due to genetically determined hyperplasia of ectodermal and mesodermal cells. Clinical manifestations present on the skin and in the nervous system, kidneys, heart, and other organs. Recent studies estimate the incidence of TS at 1/6000 to 1/10,000 live births, and a prevalence in the general population of approximately 1 in 20,000 (1). There are two different genetic loci responsible for TS: 9q34 (TSC1-hamartin) and 16p13...
April 2018: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/29779024/a-randomized-clinical-trial-of-metformin-to-treat-autosomal-dominant-polycystic-kidney-disease
#3
Stephen L Seliger, Kaleab Z Abebe, Kenneth R Hallows, Dana C Miskulin, Ronald D Perrone, Terry Watnick, Kyongtae Tae Bae
BACKGROUND: Metformin inhibits cyclic AMP generation and activates AMP-activated protein kinase (AMPK), which inhibits the cystic fibrosis transmembrane conductance regulator and Mammalian Target of Rapamycin pathways. Together these effects may reduce cyst growth in autosomal dominant polycystic kidney disease (ADPKD). METHODS: A phase II, double-blinded randomized placebo-controlled trial of 26 months duration. Participants will include nondiabetic adults (n = 96) aged 18-60 years, with an estimated glomerular filtration rate (eGFR) ≥50 mL/min/1...
May 18, 2018: American Journal of Nephrology
https://www.readbyqxmd.com/read/29774463/early-cardiovascular-manifestations-in-children-and-adolescents-with-autosomal-dominant-polycystic-kidney-disease-a-single-center-study
#4
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/29767557/polycystin-1-dysfunction-impairs-electrolyte-and-water-handling-in-a-renal-pre-cystic-mouse-model-for-adpkd
#5
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
#6
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
#7
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/29746821/lansoprazole-reduces-renal-cyst-in-polycystic-kidney-disease-via-inhibition-of-cell-proliferation-and-fluid-secretion
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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/29706351/monoallelic-mutations-to-dnajb11-cause-atypical-autosomal-dominant-polycystic-kidney-disease
#17
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
https://www.readbyqxmd.com/read/29698804/phenotype-variability-in-hajdu-cheney-syndrome
#18
Miriam Regev, Ben Pode-Shakked, Jeffrey M Jacobson, Annick Raas-Rothschild, David B Goldstein, Yair Anikster
Hajdu Cheney syndrome is a rare autosomal dominant skeletal dysplasia, with multi-organ involvement, caused by pathogenic variants in NOTCH2. It is characterized by progressive focal bone destruction, including acro-osteolysis and generalized osteoporosis, craniofacial anomalies, hearing loss, cardiovascular involvement and polycystic kidneys. Distinct radiographic findings, such as a serpentine fibula, may aid in facilitating the diagnosis. Despite several dozens of cases described in the literature, diagnosis often remains elusive, resulting in many cases in a delay in diagnosis reaching adolescence or adulthood...
April 23, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29693448/three-dimensional-in-vitro-models-answer-the-right-questions-in-adpkd-cystogenesis
#19
Eryn E Dixon, Owen M Woodward
Novel technologies, new understanding of the basement membrane composition, and better comprehension of the embryonic development of the mammalian kidney have led to explosive growth in the use of three dimensional (3D) in vitro models to study a range of human disease pathologies(6, 35). The development of these effective model systems represents a new tool to study the progressive cystogenesis of autosomal dominant polycystic kidney disease (ADPKD). ADPKD is a prevalent and complex monogenetic disease, characterized by the pathological formation of fluid fill cysts in renal tissue(17, 40)...
April 25, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29692992/tolvaptan-for-primary-aldosteronism-and-autosomal-dominant-polycystic-kidney-disease-a-case-report
#20
Kyohei Kunizawa, Junichi Hoshino, Hiroki Mizuno, Tatsuya Suwabe, Keiichi Sumida, Masahiro Kawada, Masayuki Yamanouchi, Akinari Sekine, Noriko Hayami, Rikako Hiramatsu, Eiko Hasegawa, Naoki Sawa, Kenmei Takaichi, Shigeru Shibata, Yoshifumi Ubara
A 59-year-old Japanese woman was admitted for evaluation of muscle weakness. Autosomal dominant polycystic kidney disease had been diagnosed at the age of 47 years, followed by primary aldosteronism at 53 years. At the age of 58, tolvaptan was started (60 mg/day) to treat her renal disease. After 8 months of tolvaptan therapy, hypokalemia-related muscle weakness became prominent, and hypertension became refractory. Finally, treatment with low-dose tolvaptan (30 mg/day) and high-dose spironolactone (100 mg/day) normalized serum potassium and the blood pressure...
January 2018: Case Reports in Nephrology and Dialysis
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