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Polycystic kidney disease

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https://www.readbyqxmd.com/read/29158418/a-novel-pkhd1-mutation-interacts-with-the-nonobese-1diabetic-genetic-background-to-cause-autoimmune-cholangitis
#1
Wenting Huang, Daniel B Rainbow, Yuehong Wu, David Adams, Pranavkumar Shivakumar, Leah Kottyan, Rebekah Karns, Bruce Aronow, Jorge Bezerra, M Eric Gershwin, Laurence B Peterson, Linda S Wicker, William M Ridgway
We previously reported that NOD.c3c4 mice develop spontaneous autoimmune biliary disease (ABD) with anti-mitochondrial Abs, histopathological lesions, and autoimmune T lymphocytes similar to human primary biliary cholangitis. In this article, we demonstrate that ABD in NOD.c3c4 and related NOD ABD strains is caused by a chromosome 1 region that includes a novel mutation in polycystic kidney and hepatic disease 1 (Pkhd1). We show that a long terminal repeat element inserted into intron 35 exposes an alternative polyadenylation site, resulting in a truncated Pkhd1 transcript...
November 20, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29150711/epidemiology-of-peritonitis-following-maintenance-peritoneal-dialysis-catheter-placement-during-infancy-a-report-of-the-scope-collaborative
#2
Joshua Jacob Zaritsky, Coral Hanevold, Raymond Quigley, Troy Richardson, Cynthia Wong, Jennifer Ehrlich, John Lawlor, Jonathan Rodean, Alicia Neu, Bradley A Warady
BACKGROUND: Maintenance peritoneal dialysis (PD) is the dialysis modality of choice for infants and young children. However, there are limited outcome data for those who undergo PD catheter insertion and initiate maintenance PD within the first year of life. METHODS: Using data from the Children's Hospital Association's Standardizing Care to Improve Outcomes in Pediatric End Stage Renal Disease (ESRD) Collaborative (SCOPE), we examined peritonitis rates and patient survival in 156 infants from 29 North American pediatric dialysis centers who had a chronic PD catheter placed prior to their first birthday...
November 17, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29150246/development-of-the-autosomal-dominant-polycystic-kidney-disease-impact-scale-a-new-health-related-quality-of-life-instrument
#3
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/29146704/prospective-evaluation-of-kidney-disease-in-joubert-syndrome
#4
Leah R Fleming, Daniel A Doherty, Melissa A Parisi, Ian A Glass, Joy Bryant, Roxanne Fischer, Baris Turkbey, Peter Choyke, Kailash Daryanani, Meghana Vemulapalli, James C Mullikin, May Christine Malicdan, Thierry Vilboux, John A Sayer, William A Gahl, Meral Gunay-Aygun
BACKGROUND AND OBJECTIVES: Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. The characteristics of kidney disease and genotype-phenotype correlations have not been evaluated in a large cohort at a single center. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We evaluated 97 individuals with Joubert syndrome at the National Institutes of Health Clinical Center using abdominal ultrasonography, blood and urine chemistries, and DNA sequencing...
November 16, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29146141/the-myth-of-water-and-salt-from-aquaretics-to-tenapanor
#5
REVIEW
Luca Visconti, Valeria Cernaro, Sebastiano Calimeri, Antonio Lacquaniti, Francesca De Gregorio, Carlo Alberto Ricciardi, Viviana Lacava, Domenico Santoro, Michele Buemi
The impact of water intake has been studied in several renal diseases. For example, increasing water intake is useful to prevent primary and secondary nephrolithiasis. In autosomal dominant polycystic kidney disease, arginine vasopressin (AVP) is involved in the progression of the disease, and water intake could play a therapeutic role by inhibiting the synthesis of AVP, but its efficacy is still controversial. Conversely, the use of aquaretics, which are antagonists of AVP V2 receptors, results in the reduction of the increase rate of total kidney volume with a slower decline of glomerular filtration rate...
November 14, 2017: Journal of Renal Nutrition
https://www.readbyqxmd.com/read/29145907/-autosomal-dominant-polycystic-kidney-disease-should-patients-young-adult-relatives-be-screened-or-not
#6
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
#7
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/29143991/genetic-and-non-genetic-risk-factors-for-pre-eclampsia-an-umbrella-review-of-systematic-reviews-and-meta-analyses-of-observational-studies
#8
REVIEW
Konstantinos Giannakou, Evangelos Evangelou, Stefania I Papatheodorou
OBJECTIVE: To summarize evidence from the literature on the risk factors associated with preeclampsia, assess the presence of statistical biases and identify associations with robust evidence. METHODS: We searched PubMed and ISI Web of Science from inception to October, 2016, to identify systematic reviews and meta-analyses of observational studies examining associations between genetic and non-genetic risk factors for preeclampsia. For each meta-analysis we estimated the summary effect size by random-effects and fixed-effects models, the 95% confidence interval and the 95% prediction interval...
November 16, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29142975/sclerostin%C3%A2-a-debutant-on-the-autosomal-dominant-polycystic-kidney-disease-scene
#9
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/29142972/a-drug-development-tool-for-trial-enrichment-in-patients-with-autosomal-dominant-polycystic-kidney-disease
#10
Ronald D Perrone, Mohamad-Samer Mouksassi, Klaus Romero, Frank S Czerwiec, Arlene B Chapman, Berenice Y Gitomer, Vicente E Torres, Dana C Miskulin, Steve Broadbent, Jean F Marier
Introduction: Total kidney volume (TKV) is a promising imaging biomarker for tracking and predicting the natural history of patients with autosomal dominant polycystic kidney disease. Methods: A drug development tool was developed by linking longitudinal TKV measurements to the probability of a 30% decline of estimated glomerular filtration rate (eGFR) or end-stage renal disease. Drug development tools were developed based on observational data collected over multiple decades for an eGFR decline and end-stage renal disease in 641 and 866 patients with autosomal dominant polycystic kidney disease, respectively...
May 2017: KI Reports
https://www.readbyqxmd.com/read/29142971/total-kidney-volume-is-a-prognostic-biomarker-of-renal-function-decline-and-progression-to-end-stage-renal-disease-in%C3%A2-patients-with-autosomal-dominant-polycystic-kidney-disease
#11
Ronald D Perrone, Mohamad-Samer Mouksassi, Klaus Romero, Frank S Czerwiec, Arlene B Chapman, Berenice Y Gitomer, Vicente E Torres, Dana C Miskulin, Steve Broadbent, Jean F Marier
Introduction: Autosomal dominant polycystic kidney disease is the most common hereditary kidney disease. TKV is a promising imaging biomarker for tracking and predicting the natural history of autosomal dominant polycystic kidney disease. The prognostic value of TKV was evaluated, in combination with age and eGFR, for the outcomes of 30% decline in eGFR and progression to ESRD. Observational data including 2355 patients with TKV measurements were available. Methods: Multivariable Cox models were developed to assess the prognostic value of age, TKV, height-adjusted TKV, eGFR, sex, race, and genotype for the probability of a 30% decline in eGFR or ESRD...
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
#12
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/29136299/malignancy-in-renal-transplant-recipients-exposed-to-cyclophosphamide-prior-to-transplantation-for-the-treatment-of-native-glomerular-disease
#13
M R Jorgenson, J L Descourouez, T Singh, Brad C Astor, Sarah E Panzer
STUDY OBJECTIVE: To evaluate the risk of post-transplantation malignancy in renal transplant recipients exposed to pre-transplantation cyclophosphamide for treatment of glomerular nephropathy (GN). DESIGN: Retrospective cohort study. SETTING: Tertiary academic medical center. PATIENTS: Six hundred adult renal transplant recipients transplanted between 1993 and 2014; 54 patients were exposed to pre-transplantation cyclophosphamide for treatment of GN (GN-CYC group), and 546 patients with polycystic kidney disease were not exposed to pre-transplantation cyclophosphamide (PKD group)...
November 14, 2017: Pharmacotherapy
https://www.readbyqxmd.com/read/29135414/retroperitoneoscopic-nephrectomy-for-huge-autosomal-dominant-polycystic-kidney-disease-using-morcellator
#14
Dong Sup Lee, Hee Youn Kim, Seung-Ju Lee
No abstract text is available yet for this article.
November 17, 2017: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/29133541/autosomal-dominant-polycystic-kidney-disease
#15
Matthew B Lanktree, Arlene B Chapman
No abstract text is available yet for this article.
November 13, 2017: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/29123425/long-term-safety-profile-of-tolvaptan-in-autosomal-dominant-polycystic-kidney-disease-patients-tempo-extension-japan-trial
#16
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
#17
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
#18
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/29116339/%C3%AE-arrestin-1-deficiency-ameliorates-renal-interstitial-fibrosis-by-blocking-wnt1-%C3%AE-catenin-signaling-in-mice
#19
Huiyan Xu, Quanxin Li, Jiang Liu, Jiaqing Zhu, Liang Li, Ziying Wang, Yan Zhang, Yu Sun, Jinpeng Sun, Rong Wang, Fan Yi
Despite substantial progress being made in understanding the mechanisms contributing to the pathogenesis of renal fibrosis, there are only a few therapies available to treat or prevent renal fibrosis in clinical use today. Therefore, identifying the key cellular and molecular mediators involved in the pathogenesis of renal fibrosis will provide new therapeutic strategy for treating patients with chronic kidney disease (CKD). β-Arrestin-1, a member of β-arrestin family, not only is a negative adaptor of G protein-coupled receptors (GPCRs), but also acts as a scaffold protein and regulates a diverse array of cellular functions independent of GPCR activation...
November 7, 2017: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/29114798/intensive-blood-pressure-control-in-autosomal-dominant-polycystic-kidney-disease-how-safe-is-it-reply
#20
Wan-Chuan Tsai, Kuo-Liong Chien, Hon-Yen Wu
No abstract text is available yet for this article.
November 1, 2017: JAMA Internal Medicine
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