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https://www.readbyqxmd.com/read/29150246/development-of-the-autosomal-dominant-polycystic-kidney-disease-impact-scale-a-new-health-related-quality-of-life-instrument
#1
Dorothee Oberdhan, Jason C Cole, Holly B Krasa, Rebecca Cheng, Frank S Czerwiec, Ron D Hays, Arlene B Chapman, Ronald D Perrone
BACKGROUND: The impact of autosomal dominant polycystic kidney disease (ADPKD) on health-related quality of life (HRQoL) is not well understood due to a lack of instruments specific to the condition. STUDY DESIGN: Content for a new self-administered patient-reported outcome (PRO) questionnaire to assess ADPKD-related HRQoL was developed through clinical expert and patient focus group discussions. The new PRO instrument was administered to study patients with ADPKD to evaluate its reliability and validity...
November 14, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29145907/-autosomal-dominant-polycystic-kidney-disease-should-patients-young-adult-relatives-be-screened-or-not
#2
B J Kramers, M Storm, R T Gansevoort
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease, with a global prevalence of 10 per 10,000. It is characterized by the formation of numerous cysts in both kidneys, and leads to renal function loss; the majority of patients will eventually need renal replacement therapy. It is possible to screen patients' presymptomatic family members from a young age, but this has not historically been recommended as until recently there were no treatment options. This year, the vasopressin V2 receptor antagonist tolvaptan was approved for prescription in ADPKD, to slow the rate of renal function decline...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/29145282/autosomal-dominant-polycystic-kidney-disease-combined-with-hypertrophic-cardiomyopathy-a-case-report
#3
Yingjing Shen, Chenggang Xu
INTRODUCTION: This report describes the novel sampling of autosomal dominant polycystic kidney disease (ADPKD) combined with hypertrophic cardiomyopathy (HCM). SYMPTOMS AND CLINICAL FINDINGS: A 48-year-old Chinese man presented with anasarca, hypourocrinia, gross hematuria, and weight gain by 10 kg subsequently developed acute kidney injury after struck by acute respiratory distress syndrome, really a threat to his heart. DIAGNOSES: Abdominal ultrasound revealed multiple small cysts in both kidneys, with the right kidney measuring 11...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29142975/sclerostin%C3%A2-a-debutant-on-the-autosomal-dominant-polycystic-kidney-disease-scene
#4
Magdalena Jankowska, Mathias Haarhaus, Abdul Rashid Qureshi, Bengt Lindholm, Pieter Evenepoel, Peter Stenvinkel
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disease originating from a mutation in genes encoding polycystin 1 and 2. Recent evidence suggests that these polycystins mediate mechanosensation not only in the primary cilium of kidney cells but also in bone cells. The Wnt/β-catenin signaling pathway plays a central role in mechanotransduction in osteocytes. Mechanical unloading causes the upregulation of the Wnt inhibitor sclerostin. We tested the hypothesis that ADPKD associates with higher circulating sclerostin levels...
May 2017: KI Reports
https://www.readbyqxmd.com/read/29142941/the-longitudinal-study-of-liver-cysts-in%C3%A2-patients-with-autosomal-dominant-polycystic-kidney-disease-and-polycystic-liver-disease
#5
Ryo Matsuura, Kenjiro Honda, Yoshifumi Hamasaki, Kent Doi, Eisei Noiri, Masaomi Nangaku
Introduction: Although polycystic liver disease (PCLD) is one of the extrarenal complications in patients with autosomal dominant polycystic kidney disease (ADPKD), longitudinal changes and the association with total liver volume (TLV) have not been clearly elucidated yet. Methods: Patients with ADPKD were chosen who underwent computed tomography or magnetic resonance imaging twice or more during August 2003 through December 2015. TLV, each cyst volume, and the proportion of parenchyma were measured...
January 2017: KI Reports
https://www.readbyqxmd.com/read/29123425/long-term-safety-profile-of-tolvaptan-in-autosomal-dominant-polycystic-kidney-disease-patients-tempo-extension-japan-trial
#6
Satoru Muto, Tadashi Okada, Moriyoshi Yasuda, Hidetsugu Tsubouchi, Koji Nakajima, Shigeo Horie
Aim: The aim of this trial (ClinicalTrials.gov identifier: NCT01280721) was to investigate the long-term safety profile of tolvaptan in Japanese patients with autosomal dominant polycystic kidney disease (ADPKD). Methods: This open-label multicenter trial was conducted to examine adverse drug reactions (ADRs) related to tolvaptan up to an additional 3 years in 135 Japanese patients who participated in the Tolvaptan Efficacy and Safety in Management of Autosomal Dominant Polycystic Kidney Disease and its Outcomes (TEMPO) 3:4 trial at doses of 60-120 mg/d...
2017: Drug, Healthcare and Patient Safety
https://www.readbyqxmd.com/read/29121521/induced-pluripotent-stem-cells-derived-from-an-autosomal-dominant-polycystic-kidney-disease-patient-carrying-a-pkd1-q533x-mutation
#7
Jia-Jung Lee, Ming-Ching Ho, Ching-Ying Huang, Cheng-Hao Wen, Yu-Che Cheng, Yu-Hung Hsu, Daw-Yang Hwang, Huai-En Lu, Hung-Chun Chen, Patrick C H Hsieh
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most prevalent monogenic kidney disorder leading to kidney failure. We generated induced pluripotent stem cells (iPSCs) from a 37-year-old man carrying a PKD1 Q533X mutation who suffered from kidney failure and a myocardial infarction. The iPSCs were reprogrammed from the patient's peripheral blood mononuclear cells using the Sendai virus system, and were confirmed to possess the specific PKD1 Q533X mutation and normal karyotype. Pluripotency was confirmed using in vitro and in vivo assays...
October 28, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29118087/overweight-and-obesity-are-predictors-of-progression-in-early-autosomal-dominant-polycystic-kidney-disease
#8
Kristen L Nowak, Zhiying You, Berenice Gitomer, Godela Brosnahan, Vincente E Torres, Arlene B Chapman, Ronald D Perrone, Theodore I Steinman, Kaleab Z Abebe, Frederic F Rahbari-Oskoui, Alan S L Yu, Peter C Harris, Kyongtae T Bae, Marie Hogan, Dana Miskulin, Michel Chonchol
The association of overweight/obesity with disease progression in patients with autosomal dominant polycystic kidney disease (ADPKD) remains untested. We hypothesized that overweight/obesity associates with faster progression in early-stage ADPKD. Overall, 441 nondiabetic participants with ADPKD and an eGFR>60 ml/min per 1.73 m(2) who participated in the Halt Progression of Polycystic Kidney Disease Study A were categorized on the basis of body mass index (BMI; calculated using nonkidney and nonliver weight) as normal weight (18...
November 8, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29105594/tolvaptan-in-later-stage-autosomal-dominant-polycystic-kidney-disease
#9
Vicente E Torres, Arlene B Chapman, Olivier Devuyst, Ron T Gansevoort, Ronald D Perrone, Gary Koch, John Ouyang, Robert D McQuade, Jaime D Blais, Frank S Czerwiec, Olga Sergeyeva
BACKGROUND: In a previous trial involving patients with early autosomal dominant polycystic kidney disease (ADPKD; estimated creatinine clearance, ≥60 ml per minute), the vasopressin V2-receptor antagonist tolvaptan slowed the growth in total kidney volume and the decline in the estimated glomerular filtration rate (GFR) but also caused more elevations in aminotransferase and bilirubin levels. The efficacy and safety of tolvaptan in patients with later-stage ADPKD are unknown. METHODS: We conducted a phase 3, randomized withdrawal, multicenter, placebo-controlled, double-blind trial...
November 16, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/29101551/novel-semi-automated-kidney-volume-measurements-in-autosomal-dominant-polycystic-kidney-disease
#10
Satoru Muto, Haruna Kawano, Shuji Isotani, Hisamitsu Ide, Shigeo Horie
BACKGROUND: We assessed the effectiveness and convenience of a novel semi-automatic kidney volume (KV) measuring high-speed 3D-image analysis system SYNAPSE VINCENT(®) (Fuji Medical Systems, Tokyo, Japan) for autosomal dominant polycystic kidney disease (ADPKD) patients. METHODS: We developed a novel semi-automated KV measurement software for patients with ADPKD to be included in the imaging analysis software SYNAPSE VINCENT(®). The software extracts renal regions using image recognition software and measures KV (VINCENT KV)...
November 3, 2017: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/29092060/evidence-for-bone-and-mineral-metabolism-alterations-in-children-with-autosomal-dominant-polycystic-kidney-disease
#11
Stéphanie De Rechter, Justine Bacchetta, Nathalie Godefroid, Laurence Dubourg, Pierre Cochat, Julie Maquet, Ann Raes, Jean De Schepper, Pieter Vermeersch, Maria Van Dyck, Elena Levtchenko, Patrick D'Haese, Pieter Evenepoel, Djalila Mekahli
Context: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease. Hypophosphatemia was demonstrated in adult patients with preserved renal function, together with high fibroblast growth factor 23 (FGF23) and low soluble Klotho levels. The latter explained the relative FGF23 hyporesponsiveness in this cohort. Objective: Evaluating phosphate and bone mineral metabolism in children with ADPKD compared with what is known in adult ADPKD patients...
November 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29074972/profiling-of-mirnas-and-target-genes-related-to-cystogenesis-in-adpkd-mouse-models
#12
Yu Mi Woo, Do Yeon Kim, Nam Jin Koo, Yong-Min Kim, Sunyoung Lee, Je Yeong Ko, Yubin Shin, Bo Hye Kim, Hyowon Mun, Seonju Choi, Eun Ji Lee, Jeong-Oh Shin, Eun Young Park, Jinwoong Bok, Jong Hoon Park
Autosomal polycystic kidney disease (ADPKD) is a common inherited renal disease characterized by the development of numerous fluid-filled cysts in both kidneys. We investigated miRNA-mediated regulatory systems and networks that play an important role during cystogenesis through integrative analysis of miRNA- and RNA-seq using two ADPKD mouse models (conditional Pkd1- or Pkd2-deficient mice), at three different time points (P1, P3, and P7). At each time point, we identified 13 differentially expressed miRNAs (DEmiRs) and their potential targets in agreement with cyst progression in both mouse models...
October 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29062909/congenital-hepatic-fibrosis-in-a-9-year-old-female-patient-a-case-report
#13
Kamil Janowski, Maria Goliszek, Joanna Cielecka-Kuszyk, Irena Jankowska, Joanna Pawłowska
Congenital hepatic fibrosis (CHF) is a rare, autosomal recessive disorder, clinically characterized by hepatic fibrosis and portal hypertension. CHF results from ductal plate malformation (DPM) of the intrahepatic bile ducts. Four clinical forms can be observed: portal hypertensive, cholangitic, mixed and latent. CHF is one of the "fibropolycystic diseases" which also include several conditions with a variety of intrahepatic bile duct dilatation and associated periportal fibrosis such as Caroli disease, autosomal recessive and dominant polycystic kidney disease (ARPKD or ADPKD), Ivemark, Jeune, Joubert, Bardet-Biedl, Meckel-Gruber and Arima syndromes...
September 2017: Clin Exp Hepatol
https://www.readbyqxmd.com/read/29061331/screening-for-intracranial-aneurysms-in-autosomal-dominant-polycystic-kidney-disease-is-cost-effective
#14
Adrien Flahault, Denis Trystram, François Nataf, Marie Fouchard, Bertrand Knebelmann, Jean-Pierre Grünfeld, Dominique Joly
Intracranial aneurysm rupture is a dramatic complication of autosomal dominant polycystic kidney disease (ADPKD). It remains uncertain whether screening should be widespread or only target patients with risk factors (personal or familial history of intracranial aneurysm), with an at-risk profession, or those who request screening. We evaluated this in a single-center cohort of 495 consecutive patients with ADPKD submitted to targeted intracranial aneurysm screening. Cerebral magnetic resonance angiography was proposed to 110 patients with a familial history of intracranial aneurysm (group 1), whereas it was not our intention to propose it to 385 patients without familial risk (group 2)...
October 20, 2017: Kidney International
https://www.readbyqxmd.com/read/29058957/ctgf-is-expressed-during-cystic-remodeling-in-the-pkd-mhm-cy-rat-model-for-autosomal-dominant-polycystic-kidney-disease-adpkd
#15
Stefan Gauer, Yvonne Holzmann, Bettina Kränzlin, Sigrid C Hoffmann, Norbert Gretz, Ingeborg A Hauser, Margarete Goppelt-Struebe, Helmut Geiger, Nicholas Obermüller
Connective tissue growth factor (CTGF, also named CCN2) plays an important role in the development of tubulointerstitial fibrosis, which most critically determines the progression to end-stage renal failure in autosomal-dominant polycystic kidney disease (ADPKD), the most common genetically caused renal disease. We determined CTGF expression in a well-characterized animal model of human ADPKD, the PKD/Mhm (cy/+) rat. Kidneys of 12 weeks old (cy/+) as well as (+/+) non-affected rats were analyzed for CTGF RNA and protein expression by RT-PCR, Northern and Western blot analyses, in situ hybridization, and IHC...
October 1, 2017: Journal of Histochemistry and Cytochemistry: Official Journal of the Histochemistry Society
https://www.readbyqxmd.com/read/29055226/generation-of-an-induced-pluripotent-stem-cell-line-ibms-ipsc-014-05-from-a-female-autosomal-dominant-polycystic-kidney-disease-patient-carrying-a-common-mutation-of-r803x-in-pkd2
#16
Ming-Ching Ho, Ching-Ying Huang, Jia-Jung Lee, Shih-Han Hsu, Yu-Che Cheng, Yu-Hung Hsu, Daw-Yang Hwang, Huai-En Lu, Hung-Chun Chen, Patrick C H Hsieh
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most commonly inherited forms of polycystic kidney disease, and is characterized by the growth of numerous cysts in both kidneys. Here we generated an induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells (PBMCs) of a 63-year-old female ADPKD patient carrying an R803X mutation in the PKD2 gene using the Sendai-virus delivery system. Downstream characterization of these iPSCs showed that they possessed normal karyotyping, were free of genomic integration, retained the disease-causing PKD2 mutation, expressed pluripotency markers and could differentiate into three germ layers...
October 10, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29052786/tolvaptan-promotes-urinary-excretion-of-sodium-and-urea-a-retrospective-cohort-study
#17
Satoshi Minami, Takayuki Hamano, Hirotsugu Iwatani, Masayuki Mizui, Yoshiki Kimura, Yoshitaka Isaka
BACKGROUND: Tolvaptan (TLV) promotes aquaresis; however, little is known about its effect on solute excretion in chronic kidney disease (CKD). METHODS: We retrospectively studied CKD patients with decompensated heart failure (HF) or those with autosomal dominant polycystic kidney disease (ADPKD) receiving TLV. Patients with an increased urine volume of more than twice of daily variance were defined as "responders" in HF. We compared the ability of the urinary osmolality (U-OSM) change and urinary creatinine concentration ([U-Cr]) change to discriminate "responders"...
October 20, 2017: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/29038287/genetic-complexity-of-autosomal-dominant-polycystic-kidney-and-liver-diseases
#18
Emilie Cornec-Le Gall, Vicente E Torres, Peter C Harris
Data indicate significant phenotypic and genotypic overlap, plus a common pathogenesis, between two groups of inherited disorders, autosomal dominant polycystic kidney diseases (ADPKD), a significant cause of ESRD, and autosomal dominant polycystic liver diseases (ADPLD), which result in significant PLD with minimal PKD. Eight genes have been associated with ADPKD (PKD1 and PKD2), ADPLD (PRKCSH, SEC63, LRP5, ALG8, and SEC61B), or both (GANAB). Although genetics is only infrequently used for diagnosing these diseases and prognosing the associated outcomes, its value is beginning to be appreciated, and the genomics revolution promises more reliable and less expensive molecular diagnostic tools for these diseases...
October 16, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29035198/affected-parent-sex-and-severity-of-autosomal-dominant-polycystic-kidney-disease-a-retrospective-cohort-study%C3%A2
#19
Kristen L Nowak, Michel Chonchol, Zhiying You, Malika Gupta, Berenice Gitomer
OBJECTIVE: Parental inheritance may differentially affect autosomal dominant polycystic kidney disease (-ADPKD) severity via genetic imprinting or in utero epigenetic modifications; however, evidence is inconsistent. We conducted a longitudinal retrospective cohort study to assess the association between sex of the affected parent and time to hypertension diagnosis, end-stage renal disease (ESRD), and death in patients with the PKD1 genotype. MATERIALS AND METHODS: 814 individuals who participated in research at the University of Colorado were studied...
October 16, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/29035195/effects-of-fasting-during-the-month-of-ramadan-on-renal-function-in-patients-with-autosomal-dominant-polycystic-kidney-disease%C3%A2
#20
Iskender Ekinci, Reha Erkoc, Meltem Gursu, Elif Ece Dogan, Elif Kilic, Egemen Cebeci, Savas Ozturk, Rumeyza Kazancioglu
BACKGROUND: In this study, we aimed to examine the impact of fasting during the month of Ramadan on autosomal dominant polycystic kidney disease (-ADPKD) patients with normal to near-normal glomerular filtration rate (GFR). MATERIALS AND METHODS: This was a prospective observational study of patients with ADPKD, the majority of whom had normal or near-normal GFR. Patients were divided into two groups: the fasting group (FG) and the nonfasting group (NFG). Assessments in the NFG were performed 1 week before and 1 month after Ramadan, while FG patients were assessed on the last day of fasting in addition to the abovementioned visits...
October 16, 2017: Clinical Nephrology
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