keyword
MENU ▼
Read by QxMD icon Read
search

autosomal dominant polycystic kidney

keyword
https://www.readbyqxmd.com/read/28092368/molecular-insights-into-lipid-assisted-ca-2-regulation-of-the-trp-channel-polycystin-2
#1
Martin Wilkes, M Gregor Madej, Lydia Kreuter, Daniel Rhinow, Veronika Heinz, Silvia De Sanctis, Sabine Ruppel, Rebecca M Richter, Friederike Joos, Marina Grieben, Ashley C W Pike, Juha T Huiskonen, Elisabeth P Carpenter, Werner Kühlbrandt, Ralph Witzgall, Christine Ziegler
Polycystin-2 (PC2), a calcium-activated cation TRP channel, is involved in diverse Ca(2+) signaling pathways. Malfunctioning Ca(2+) regulation in PC2 causes autosomal-dominant polycystic kidney disease. Here we report two cryo-EM structures of distinct channel states of full-length human PC2 in complex with lipids and cations. The structures reveal conformational differences in the selectivity filter and in the large exoplasmic domain (TOP domain), which displays differing N-glycosylation. The more open structure has one cation bound below the selectivity filter (single-ion mode, PC2SI), whereas multiple cations are bound along the translocation pathway in the second structure (multi-ion mode, PC2MI)...
January 16, 2017: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/28088190/total-kidney-and-liver-volume-is-a-major-risk-factor-for-malnutrition-in-ambulatory-patients-with-autosomal-dominant-polycystic-kidney-disease
#2
Hyunjin Ryu, Hyosang Kim, Hayne Cho Park, Hyunsuk Kim, Eun Jin Cho, Kyu-Beck Lee, Wookyung Chung, Kook-Hwan Oh, Jeong Yeon Cho, Young-Hwan Hwang, Curie Ahn
BACKGROUND: In patients with autosomal dominant polycystic kidney disease (ADPKD), malnutrition may develop as renal function declines and the abdominal organs become enlarged. We investigated the relationship of intra-abdominal mass with nutritional status. METHODS: This cross-sectional study was performed at a tertiary hospital outpatient clinic. Anthropometric and laboratory data including serum creatinine, albumin, and cholesterol were collected, and kidney and liver volumes were measured...
January 14, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28087011/acute-aortic-syndrome-in-autosomal-dominant-polycystic-kidney-disease
#3
Ioannis Dimarakis, Isaac Kadir
No abstract text is available yet for this article.
February 2017: Kidney International
https://www.readbyqxmd.com/read/28081165/urine-concentrating-capacity-vasopressin-and-copeptin-in-adpkd-and-iga-nephropathy-patients-with-renal-impairment
#4
Debbie Zittema, Niek F Casteleijn, Stephan J L Bakker, Lianne S M Boesten, A A Margreeth Duit, Casper F M Franssen, Carlo A J M Gaillard, Ron T Gansevoort
BACKGROUND: Autosomal Dominant Polycystic Kidney Disease (ADPKD) patients have an impaired urine concentrating capacity. Increased circulating vasopressin (AVP) concentrations are supposed to play a role in the progression of ADPKD. We hypothesized that ADPKD patients have a more severely impaired urine concentrating capacity in comparison to other patients with chronic kidney disease at a similar level of kidney function, with consequently an enhanced AVP response to water deprivation with higher circulating AVP concentrations...
2017: PloS One
https://www.readbyqxmd.com/read/28077374/parallel-microarray-profiling-identifies-erbb4-as-a-determinant-of-cyst-growth-in-adpkd-and-a-prognostic-biomarker-for-disease-progression
#5
Andrew J Streets, Tajdida A Magayr, Linghong Huang, Laura Vergoz, Sandro Rossetti, Roslyn J Simms, Peter C Harris, Dorien J M Peters, Albert Cm Ong
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the fourth most common cause of end-stage renal disease. The disease course can be highly variable and treatment options are limited. To identify new therapeutic targets and prognostic biomarkers of disease, we conducted parallel discovery microarray profiling in normal and diseased human PKD1 cystic kidney cells. A total of 1515 genes and 5 miRNA were differentially expressed by more than two-fold in PKD1 cells. Functional enrichment analysis identified 30 dysregulated signalling pathways including the epidermal growth factor (EGF) receptor pathway...
January 11, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28050373/histopathologic-findings-in-autopsies-with-emphasis-on-interesting-and-incidental-findings-a-pathologist-s-perspective
#6
Sapna Patel, B R Rajalakshmi, G V Manjunath
INTRODUCTION: Autopsy aids to the knowledge of pathology by unveiling the rare lesions which are a source of learning from a pathologist's perspective Some of them are only diagnosed at autopsy as they do not cause any functional derangement. This study emphasizes the various incidental lesions which otherwise would have been unnoticed during a person's life. AIM: The aim of this study was to determine the spectrum of histopathological findings including neoplastic lesions related or unrelated to the cause of death...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28038444/an-association-between-autosomal-dominant-polycystic-kidney-disease-and-the-risk-of-acute-myocardial-infarction-in-asian-population-results-of-a-nationwide-study
#7
Pei-Hsun Sung, Hsin-Ju Chiang, Yao-Hsu Yang, Chi-Jen Chen, John Y Chiang, Hon-Kan Yip
Cardiovascular complications are the leading causes of death in patients with autosomal-dominant polycystic kidney disease (ADPKD) in the Western countries. However, theprevalence and risk of acute myocardial infarction (AMI) in patients with ADPKD remain unknown, especially in Asian population. We utilized the data from Taiwan National Health Insurance Research Database (NHIRD) to perform a population-based cohort study (1997-2008). A total of 2062 patients with ADPKD were selected from one million of general population after excluding those patients with age less than 18 years old, receiving renal replacement therapy, and concomitant diagnoses of AMI...
December 27, 2016: Oncotarget
https://www.readbyqxmd.com/read/28029746/respiratory-manifestations-in-38-patients-with-alstr%C3%A3-m-syndrome
#8
Caroline Boerwinkle, Jan D Marshall, Joy Bryant, William A Gahl, Kenneth N Olivier, Meral Gunay-Aygun
OBJECTIVES: Alström syndrome (AS) is a rare, multi-system condition characterized by retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, hypertriglyceridemia, cardiomyopathy, hepatorenal disease, and recurrent respiratory infections. It belongs to a group of genetic disorders known as primary ciliopathies, which includes autosomal dominant and recessive polycystic kidney diseases, as well as Joubert and Bardet-Biedl syndromes. Prior studies have suggested phenotypic overlap between primary ciliopathies affecting the non-motile, sensory cilia, and primary ciliary dyskinesia (PCD), a motile ciliopathy characterized by respiratory tract disease...
December 28, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28024168/carbohydrate-antigen-19-9-is-significantly-elevated-in-autosomal-dominant-polycystic-kidney-disease
#9
Hirotaka Fukasawa, Mai Kaneko, Hiroki Niwa, Hideo Yasuda, Hiromichi Kumagai, Ryuichi Furuya
AIM: Liver cysts are the most common extrarenal manifestation in patients with autosomal dominant polycystic kidney disease (ADPKD). Carbohydrate antigen 19-9 (CA19-9) is generally used as a marker for biliopancreatic malignancies, although CA19-9 levels in patients with ADPKD are largely unknown. METHODS: A prospective observational study of 53 ADPKD patients and 83 non-ADPKD control subjects was performed. The serum levels of CA19-9 were studied to evaluate the association with clinical parameters and liver cysts...
December 26, 2016: Nephrology
https://www.readbyqxmd.com/read/28007903/autophagy-activators-suppress-cystogenesis-in-an-autosomal-dominant-polycystic-kidney-disease-model
#10
Ping Zhu, Cynthia J Sieben, Xiaolei Xu, Peter C Harris, Xueying Lin
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in either PKD1 or PKD2 It is one of the most common heritable human diseases with eventual development of renal failure; however, effective treatment is lacking. While inhibition of mechanistic target of rapamycin (mTOR) effectively slows cyst expansions in animal models, results from clinical studies are controversial, prompting further mechanistic studies of mTOR-based therapy. Here, we aim to establish autophagy, a downstream pathway of mTOR, as a new therapeutic target for PKD...
December 22, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27995519/hepatic-cyst-infection-during-use-of-the-somatostatin-analog-lanreotide-in-autosomal-dominant-polycystic-kidney-disease-an-interim-analysis-of-the-randomized-open-label-multicenter-dipak-1-study
#11
Marten A Lantinga, Hedwig M A D'Agnolo, Niek F Casteleijn, Johan W de Fijter, Esther Meijer, Annemarie L Messchendorp, Dorien J M Peters, Mahdi Salih, Edwin M Spithoven, Darius Soonawala, Folkert W Visser, Jack F M Wetzels, Robert Zietse, Joost P H Drenth, Ron T Gansevoort
INTRODUCTION AND AIMS: The DIPAK-1 Study investigates the reno- and hepatoprotective efficacy of the somatostatin analog lanreotide compared with standard care in patients with later stage autosomal dominant polycystic kidney disease (ADPKD). During this trial, we witnessed several episodes of hepatic cyst infection, all during lanreotide treatment. We describe these events and provide a review of the literature. METHODS: The DIPAK-1 Study is an ongoing investigator-driven, randomized, controlled, open-label multicenter trial...
December 19, 2016: Drug Safety: An International Journal of Medical Toxicology and Drug Experience
https://www.readbyqxmd.com/read/27994919/frequency-of-nerve-root-sleeve-cysts-in-autosomal-dominant-polycystic-kidney-disease
#12
Murat Aşık, Fatih Tufan, Timur Selçuk Akpınar, Nilgül Akalın, Elvan Ceyhan, Necmeddin Tunç, Zehra Işık Hasıloğlu, Mehmet Rıza Altıparmak, Tevfik Ecder, Sait Albayram
BACKGROUND: There is sporadic data about the occurrence of spinal meningeal cysts in patients with autosomal dominant polycystic kidney disease (ADPKD). We suggest that there is a relationship with the frequency and size of spinal meningeal cysts and headache, intracranial aneurysms, and cerebrospinal fluid leakage in patients with ADPKD. AIM: To investigate the relationship with spinal meningeal cyst, cerebrospinal fluid leakage, and headache in patients with ADPKD...
November 2016: Balkan Medical Journal
https://www.readbyqxmd.com/read/27993381/dietary-salt-restriction-is-beneficial-to-the-management-of-autosomal-dominant-polycystic%C3%A2-kidney-disease
#13
Vicente E Torres, Kaleab Z Abebe, Robert W Schrier, Ronald D Perrone, Arlene B Chapman, Alan S Yu, William E Braun, Theodore I Steinman, Godela Brosnahan, Marie C Hogan, Frederic F Rahbari, Jared J Grantham, Kyongtae T Bae, Charity G Moore, Michael F Flessner
The CRISP study of polycystic kidney disease (PKD) found that urinary sodium excretion associated with the rate of total kidney volume increase. Whether sodium restriction slows the progression of Autosomal Dominant PKD (ADPKD) is not known. To evaluate this we conducted a post hoc analysis of the HALT-PKD clinical trials of renin-angiotensin blockade in patients with ADPKD. Linear mixed models examined whether dietary sodium affected rates of total kidney volume or change in estimated glomerular filtration rate (eGFR) in patients with an eGFR over 60 ml/min/1...
February 2017: Kidney International
https://www.readbyqxmd.com/read/27991905/structure-of-the-polycystic-kidney-disease-trp-channel-polycystin-2-pc2
#14
Mariana Grieben, Ashley C W Pike, Chitra A Shintre, Elisa Venturi, Sam El-Ajouz, Annamaria Tessitore, Leela Shrestha, Shubhashish Mukhopadhyay, Pravin Mahajan, Rod Chalk, Nicola A Burgess-Brown, Rebecca Sitsapesan, Juha T Huiskonen, Elisabeth P Carpenter
Mutations in either polycystin-1 (PC1 or PKD1) or polycystin-2 (PC2, PKD2 or TRPP1) cause autosomal-dominant polycystic kidney disease (ADPKD) through unknown mechanisms. Here we present the structure of human PC2 in a closed conformation, solved by electron cryomicroscopy at 4.2-Å resolution. The structure reveals a novel polycystin-specific 'tetragonal opening for polycystins' (TOP) domain tightly bound to the top of a classic transient receptor potential (TRP) channel structure. The TOP domain is formed from two extensions to the voltage-sensor-like domain (VSLD); it covers the channel's endoplasmic reticulum lumen or extracellular surface and encloses an upper vestibule, above the pore filter, without blocking the ion-conduction pathway...
December 19, 2016: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/27987038/efficient-genome-editing-of-differentiated-renal-epithelial-cells
#15
Alexis Hofherr, Tilman Busch, Nora Huber, Andreas Nold, Albert Bohn, Amandine Viau, Frank Bienaimé, E Wolfgang Kuehn, Sebastian J Arnold, Michael Köttgen
Recent advances in genome editing technologies have enabled the rapid and precise manipulation of genomes, including the targeted introduction, alteration, and removal of genomic sequences. However, respective methods have been described mainly in non-differentiated or haploid cell types. Genome editing of well-differentiated renal epithelial cells has been hampered by a range of technological issues, including optimal design, efficient expression of multiple genome editing constructs, attainable mutation rates, and best screening strategies...
December 16, 2016: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/27984604/-identification-of-a-novel-splicing-mutation-of-pkd1-gene-in-a-pedigree-affected-with-autosomal-dominant-polycystic-kidney-disease
#16
Peiwen Xu, Yang Zou, Jie Li, Sexin Huang, Ming Gao, Ranran Kang, Yuan Gao
OBJECTIVE: To identify potential mutations of PKD1 gene in a family affected with autosomal dominant polycystic kidney disease (ADPKD). METHODS: The coding regions of the PKD1 gene were subjected to PCR and Sanger sequencing. Reverse transcription-PCR (RT-PCR) was used to determine the relative mRNA expression in the patient. RESULTS: A splicing site mutation, c.8791+1_8791+5delGTGCG (IVS23+1_+5delGTGCG), was detected in the PKD1 gene in all 5 patients from the pedigree but not in 6 phenotypically normal relatives and 40 healthy controls...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27971658/kidney-related-complications-are-associated-with-worse-outcomes-among-hospitalized-children-with-autosomal-dominant-polycystic-kidney-disease-in-the-us
#17
L A Clark, C M Blanchette, J M Noone, R Howden, E Zacherle, S Whitmire, B D Gordon
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27971656/hypertension-is-associated-with-worse-outcomes-among-hospitalized-children-with-autosomal-dominant-polycystic-kidney-disease-in-the-us
#18
L A Clark, C M Blanchette, J M Noone, R Howden, E Zacherle, S Whitmire, B D Gordon
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27938556/-hereditary-polycystic-kidney-disease-a-neglected-etiology-of-liver-cirrhosis
#19
Y J Wu, H G Ding
There are two common types of hereditary polycystic kidney diseases, autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease. Congenital hepatic fibrosis is an autosomal recessive disorder and can occur in hereditary polycystic kidney disease. Therefore, hereditary polycystic kidney disease is one of the causes of unexplained liver fibrosis and liver cirrhosis.
October 20, 2016: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/27930582/renal-volume-and-cardiovascular-risk-assessment-in-normotensive-autosomal-dominant-polycystic-kidney-disease-patients
#20
Laia Sans, Julio Pascual, Aleksandar Radosevic, Claudia Quintian, Mireia Ble, Lluís Molina, Sergi Mojal, José A Ballarin, Roser Torra, Patricia Fernández-Llama
Cardiovascular disease, closely related to an early appearance of hypertension, is the most common mortality cause among autosomal dominant polycystic kidney disease patients (ADPKD). The development of hypertension is related to an increase in renal volume. Whether the increasing in the renal volume before the onset of hypertension leads to a major cardiovascular risk in ADPKD patients remains unknown.Observational and cross-sectional study of 62 normotensive ADPKD patients with normal renal function and a group of 28 healthy controls...
December 2016: Medicine (Baltimore)
keyword
keyword
98330
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"