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https://www.readbyqxmd.com/read/27921039/clinical-manifestation-and-management-of-adpkd-in-western-countries
#1
REVIEW
Claudia Sommerer, Martin Zeier
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease in Western countries. The prevalence is between 2.4/10,000 and 3.9/10,000. ADPKD represents a systemic disease resulting in deterioration in renal function. Until now, mutations in two genes (PKD1 and PKD2) have been identified. Recently, the European Medicines Agency (EMA) approved the use of the vasopressin V2 receptor antagonist tolvaptan to slow the progression of cyst development and renal insufficiency connected with ADPKD in adult patients with chronic kidney disease stages 1-3 at initiation of treatment with evidence of rapidly progressing disease...
October 2016: Kidney Diseases
https://www.readbyqxmd.com/read/27921038/the-clinical-manifestation-and-management-of-autosomal-dominant-polycystic-kidney-disease-in-china
#2
REVIEW
Cheng Xue, Chen-Chen Zhou, Ming Wu, Chang-Lin Mei
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic hereditary kidney disease characterized by progressive enlargement of renal cysts. The incidence is 1-2‰ worldwide. Mutations in two genes (PKD1 and PKD2) cause ADPKD. Currently, there is no pharmaceutical treatment available for ADPKD patients in China. Summary: This review focused on advances in clinical manifestation, gene diagnosis, risk factors, and management of ADPKD in China. There is an age-dependent increase in total kidney volume (TKV) and decrease in renal function in Chinese ADPKD patients...
October 2016: Kidney Diseases
https://www.readbyqxmd.com/read/27920153/urine-osmolality-response-to-tolvaptan-and-outcome-in-autosomal-dominant-polycystic-kidney-disease-results-from-the-tempo-3-4-trial
#3
Olivier Devuyst, Arlene B Chapman, Ron T Gansevoort, Eiji Higashihara, Ronald D Perrone, Vicente E Torres, Jaime D Blais, Wen Zhou, John Ouyang, Frank S Czerwiec
The vasopressin-cAMP-osmolality axis is abnormal in autosomal dominant polycystic kidney disease (ADPKD). In the Tolvaptan Efficacy and Safety in Management of Autosomal Dominant Polycystic Kidney Disease and Its Outcomes 3:4 Trial, a 3-year randomized, placebo-controlled trial in adults, the vasopressin V2 receptor antagonist tolvaptan slowed ADPKD progression in patients with preserved GFR. Here, we investigated the determinants of baseline urine osmolality (Uosm) and its value as a severity marker of ADPKD, the factors influencing the response to tolvaptan, and whether change in Uosm associated with key trial end points...
December 5, 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27900973/autosomal-dominant-polycystic-kidney-disease-in-children
#4
Kiran Chandra Patro, R Dilip, S Ramakrishnan
Autosomal dominant polycystic kidney disease (ADPKD) presenting in adults is well documented, but the presentation in children is uncommon and is unclear why the disease presents early. Cases in children are identified usually while screening those with a strong family history and less commonly when symptomatic. We present here two children with ADPKD.
November 2016: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/27899079/vasopressin-related-copeptin-is-a-novel-predictor-of-early-endothelial-dysfunction-in-patients-with-adult-polycystic-kidney-disease
#5
Ismail Kocyigit, Mahmut Ilker Yilmaz, Ozkan Gungor, Eray Eroglu, Aydin Unal, Ozcan Orscelik, Bulent Tokgoz, Murat Sipahioglu, Ahmet Sen, Juan Jesús Carrero, Oktay Oymak, Jonas Axelsson
BACKGROUND: In this study, we examined the relative usefulness of serum copeptin levels as a surrogate marker of vasopressin (AVP) in adult polycystic kidney disease (ADPKD) by correlating it with baseline and longitudinal changes in markers of both renal function and common CVD manifestations (hypertensive vascular disease, atherosclerosis and endothelial dysfunction) that accompany the progression of this disease. METHODS: We studied a cohort of young and otherwise healthy ADPKD patients (n = 235) and measured cardiovascular function using flow-mediation dilatation (FMD), carotid intima media thickness (cIMT) and pulse wave velocity (PWV), as well as serum copeptin (commercial ELISA, a stable marker of AVP activity)...
November 30, 2016: BMC Nephrology
https://www.readbyqxmd.com/read/27871310/transcriptome-analysis-reveals-manifold-mechanisms-of-cyst-development-in-adpkd
#6
Rita M C de Almeida, Sherry G Clendenon, William G Richards, Michael Boedigheimer, Michael Damore, Sandro Rossetti, Peter C Harris, Britney-Shea Herbert, Wei Min Xu, Angela Wandinger-Ness, Heather H Ward, James A Glazier, Robert L Bacallao
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) causes progressive loss of renal function in adults as a consequence of the accumulation of cysts. ADPKD is the most common genetic cause of end-stage renal disease. Mutations in polycystin-1 occur in 87% of cases of ADPKD and mutations in polycystin-2 are found in 12% of ADPKD patients. The complexity of ADPKD has hampered efforts to identify the mechanisms underlying its pathogenesis. No current FDA (Federal Drug Administration)-approved therapies ameliorate ADPKD progression...
November 21, 2016: Human Genomics
https://www.readbyqxmd.com/read/27858251/methodological-issues-in-clinical-trials-of-polycystic-kidney-disease-a-focused-review
#7
REVIEW
Ioan-Andrei Iliuta, Abhijat Kitchlu, York Pei
The field of therapeutics in autosomal dominant polycystic kidney disease (ADPKD) has seen a significant expansion recently, as major clinical trials have provided promising evidence in favor of new disease-modifying drugs. Though these trials are encouraging, limitations are noticeable in the form of methodological issues that restrict the interpretation of results. In this review, we discuss the methodological pitfalls of high-profile clinical interventional trials for ADPKD which have been published since 2009...
November 17, 2016: Journal of Nephrology
https://www.readbyqxmd.com/read/27856088/tolvaptan-and-kidney-pain-in-patients-with-autosomal-dominant%C3%A2-polycystic-kidney-disease-secondary-analysis-from%C3%A2-a-randomized-controlled-trial
#8
Niek F Casteleijn, Jaime D Blais, Arlene B Chapman, Frank S Czerwiec, Olivier Devuyst, Eiji Higashihara, Anna M Leliveld, John Ouyang, Ronald D Perrone, Vicente E Torres, Ron T Gansevoort
BACKGROUND: Kidney pain is a common complication in patients with autosomal dominant polycystic kidney disease (ADPKD), and data from the TEMPO 3:4 trial suggested that tolvaptan, a vasopressin V2 receptor antagonist, may have a positive effect on kidney pain in this patient group. Because pain is difficult to measure, the incidence of kidney pain leading to objective medical interventions was used in the present study to assess pain. STUDY DESIGN: Secondary analysis from a randomized controlled trial...
November 14, 2016: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/27843768/functional-alterations-due-to-amino-acid-changes-and-evolutionary-comparative-analysis-of-arpkd-and-adpkd-genes
#9
Burhan M Edrees, Mohammad Athar, Zainularifeen Abduljaleel, Faisal A Al-Allaf, Mohiuddin M Taher, Wajahatullah Khan, Abdellatif Bouazzaoui, Naffaa Al-Harbi, Ramzia Safar, Howaida Al-Edressi, Khawala Alansary, Abulkareem Anazi, Naji Altayeb, Muawia A Ahmed
A targeted customized sequencing of genes implicated in autosomal recessive polycystic kidney disease (ARPKD) phenotype was performed to identify candidate variants using the Ion torrent PGM next-generation sequencing. The results identified four potential pathogenic variants in PKHD1 gene [c.4870C > T, p.(Arg1624Trp), c.5725C > T, p.(Arg1909Trp), c.1736C > T, p.(Thr579Met) and c.10628T > G, p.(Leu3543Trp)] among 12 out of 18 samples. However, one variant c.4870C > T, p.(Arg1624Trp) was common among eight patients...
December 2016: Genomics Data
https://www.readbyqxmd.com/read/27836810/external-ca-2-regulates-polycystin-2-trpp2-cation-currents-in-llc-pk1-renal-epithelial-cells
#10
Xiao Qing Dai, Paula L Perez, Gonzalo Soria, Noelia Scarinci, Mariano Smoler, D Cristian Morsucci, Kunimasa Suzuki, María Del Rocío Cantero, Horacio F Cantiello
Polycystin-2 (PC2, TRPP2) is a nonselective cation channel whose dysfunction is associated with the onset of autosomal dominant polycystic kidney disease (ADPKD). PC2 contributes to Ca(2+) transport and cell signaling in renal epithelia and other tissues. Little is known however, as to the external Ca(2+) regulation of PC2 channel function. In this study, we explored the effect of external Ca(2+) on endogenous PC2 in wild type LLC-PK1 renal epithelial cells. We obtained whole cell currents at different external Ca(2+) concentrations, and observed that the basal whole cell conductance in normal Ca(2+)(1...
November 9, 2016: Experimental Cell Research
https://www.readbyqxmd.com/read/27835667/technical-evaluation-identification-of-pathogenic-mutations-in-pkd1-and-pkd2-in-patients-with-autosomal-dominant-polycystic-kidney-disease-by-next-generation-sequencing-and-use-of-a-comprehensive-new-classification-system
#11
Moritoshi Kinoshita, Eiji Higashihara, Haruna Kawano, Ryo Higashiyama, Daisuke Koga, Takafumi Fukui, Nobuhisa Gondo, Takehiko Oka, Kozo Kawahara, Krisztina Rigo, Tim Hague, Kiyonori Katsuragi, Kimiyoshi Sudo, Masahiko Takeshi, Shigeo Horie, Kikuo Nutahara
Genetic testing of PKD1 and PKD2 is expected to play an increasingly important role in determining allelic influences in autosomal dominant polycystic kidney disease (ADPKD) in the near future. However, to date, genetic testing is not commonly employed because it is expensive, complicated because of genetic heterogeneity, and does not easily identify pathogenic variants. In this study, we developed a genetic testing system based on next-generation sequencing (NGS), long-range polymerase chain reaction, and a new software package...
2016: PloS One
https://www.readbyqxmd.com/read/27829402/intracystic-magnetic-resonance-imaging-in-patients-with-autosomal-dominant-polycystic-kidney-disease-features-of-severe-cyst-infection-in-a-case-control-study
#12
Tatsuya Suwabe, Yoshifumi Ubara, Toshiharu Ueno, Noriko Hayami, Junichi Hoshino, Aya Imafuku, Masahiro Kawada, Rikako Hiramatsu, Eiko Hasegawa, Naoki Sawa, Satoshi Saitoh, Itsuko Okuda, Kenmei Takaichi
BACKGROUND: The purpose of this study was to investigate the usefulness of intracystic MRI features for detection of severe cyst infection that is usually refractory to antibiotic therapy alone in patients with autosomal dominant polycystic kidney disease. METHODS: Seventy-six patients (88 episodes) with positive cyst cultures treated from January 2006 to December 2013 were enrolled as the cases for this case-control study, while 147 patients who continued to attend our hospital from January 2011 to December 2013 and did not have cyst infection diagnosed during that period were enrolled as the controls...
November 9, 2016: BMC Nephrology
https://www.readbyqxmd.com/read/27826057/adenylyl-cyclase-5-links-changes-in-calcium-homeostasis-to-camp-dependent-cyst-growth-in-polycystic-liver-disease
#13
Carlo Spirli, Valeria Mariotti, Ambra Villani, Luca Fabris, Romina Fiorotto, Mario Strazzabosco
BACKGROUND/AIMS: Genetic defects in Polycystins -1 or -2 (PC1 or PC2) cause polycystic liver disease associated with ADPKD (PLD-ADPKD). Progressive cyst growth is sustained by a cAMP-dependent Ras/ERK/HIFα pathway leading to increased autocrine/paracrine VEGF-A signalling. In PC2-defective cholangiocytes, store-operated Ca(2+) entry (SOCE), intracellular and endoplasmic reticulum [Ca(2+)]ER levels are reduced, while cAMP production in response to [Ca(2+)]ER depletion is increased. We hypothesized that in PC2-defective cells, in response to [Ca(2+)]ER depletion, the Ca(2+)-inhibitable adenylyl-cyclases AC5 or AC6 are activated by the ER chaperon STIM1 resulting in cAMP/PKA-dependent Ras/ERK/HIFα pathway activation...
November 5, 2016: Journal of Hepatology
https://www.readbyqxmd.com/read/27813615/18f-fdg-pet-ct-demonstrated-renal-and-hepatic-cyst-infection-in-a-patient-with-autosomal-dominant-polycystic-kidney-disease
#14
Domenico Albano, Giovanni Bosio, Francesco Bertagna
Infection of renal or hepatic cyst is a serious complication of autosomal dominant polycystic kidney disease (ADPKD) and early diagnosis is crucial for the correct management. We report a case of 64-year-old male with ADPKD, who required renal transplantation some years before, with recent recurrent episodes of fever and abdominal pain, who underwent 18F-FDG PET/CT twice at 18 months intervals, after not conclusive conventional imaging studies (CT, ultrasonography). 18F-FDG PET/CT has proven to be a useful method for the diagnosis of renal and hepatic cyst infection in a patient with ADPKD and for the subse-quent management...
2016: Nuclear Medicine Review. Central & Eastern Europe
https://www.readbyqxmd.com/read/27812213/hif-stabilization-weakens-primary-cilia
#15
Andrew Resnick
Although solitary or sensory cilia are present in most cells of the body and their existence has been known since the sixties, very little is known about their functions. One suspected function is fluid flow sensing- physical bending of cilia produces an influx of Ca++, which can then result in a variety of activated signaling pathways. Defective cilia and ciliary-associated proteins have been shown to result in cystic diseases. Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a progressive disease, typically appearing in the 5th decade of life and is one of the most common monogenetic inherited human diseases, affecting approximately 600,000 people in the United States...
2016: PloS One
https://www.readbyqxmd.com/read/27796023/-clinical-manifestations-in-autosomal-dominant-polycystic-kidney-disease-adpkd
#16
Giovanni Piscopo, Giovanna Capolongo
ADPKD is a systemic disorder, associated with numerous extrarenal manifestations, including polycystic liver disease (PCLD) and other gastrointestinal manifestations, as well as pancreatic cysts, diverticular disease, inguinal and ventral hernias which play a significant role in disease burden, particularly in the advanced stage of ADPKD. In most cases the natural history of ADPKD goes through a long period of stability followed by a progressive decline in renal function. The coexistence of hypertension, cyst infections and nephrolithiasis can influence and accelerate the progression of kidney failure...
September 2016: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/27796022/-treatment-of-autosomal-dominant-polycystic-kidney-disease-adpkd-tolvaptan
#17
Massimo Cirillo
The European Medicines Agency approved tolvaptan to slow cyst growth and renal failure progression in adults with ADPKD, glomerular filtration 60 mL/min x 1.73 m2 and rapidly progressive disease. In a multicenter 3-year study, conducted on 1,445 patients with non-genotyped ADPKD, ages 18-50 years, predicted creatinine clearance 60 mL/min and kidney total volume 750 mL, tolvaptan slowed kidney failure progression (-23%-46% for different objectives) and reduced kidney volume increase and pain without effects on hypertension and albuminuria...
September 2016: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/27796021/-renal-transplantation-in-autosomal-dominant-polycystic-kidney-disease-adpkd
#18
Norberto Perico, Monica Cortinovis, Giuseppe Remuzzi
Transplantation is the optimal choice for renal replacement therapy in patients with autosomal dominant polycystic kidney disease (ADPKD). However, some specific issues should be addressed before transplantation, including nephrectomy of native kidneys, cystic liver involvement, screening for intracranial aneurysms and living related-donor transplantation. After kidney transplantation, patient and graft survival rates are excellent and the size of native kidneys typically declines. Nevertheless, a number of renal and extrarenal complications have been documented in kidney transplant recipients with ADPKD...
September 2016: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/27796020/-treatment-of-autosomal-dominant-polycystic-kidney-disease-adpkd-somatostatin-analogues-and-mtor-inhibitors
#19
Norberto Perico, Monica Cortinovis, Giuseppe Remuzzi
Recent advances in the understanding of the molecular mechanisms underlying autosomal dominant polycystic kidney disease (ADPKD) set the stage for the development of various treatments aimed to arrest or delay disease progression. In particular, clinical trials showed that the use of somatostatin analogues in patients with ADPKD is able to slow down the increase in total kidney volume and the progressive decline in renal function over the long-term. Treatment with these agents is generally well tolerated and it also enables to control cyst growth in the liver in patients with this extra-renal manifestation of the disease...
September 2016: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/27796019/-renal-failure-management-of-uremic-condition-and-replacement-therapy
#20
Riccardo Magistroni, Giovanna Capolongo, Giovanni Piscopo
Replacement therapy implemented by renal transplantation is preferable to dialysis treatment and also in uremic population with ADPKD. In preparation for the transplant nephrectomy is a procedure associated with morbidity and mortality in patient with ADPKD, it should be performed on the basis of stringent clinical indications. When the kidney transplant is not possible, peritoneal dialysis in appropriate patients is not contraindicated with comparable results to the extracorporeal dialytic treatment. The therapeutic targets in substitution treatment with respect to pressure levels, lipids, hemoglobin, anticoagulation regime are comparable to the non ADPKD uremic population...
September 2016: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
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