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autosomal dominant polycystic kidney

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https://www.readbyqxmd.com/read/28915698/risk-of-aortic-aneurysm-and-dissection-in-patients-with-autosomal-dominant-polycystic-kidney-disease-a-nationwide-population-based-cohort-study
#1
Pei-Hsun Sung, Yao-Hsu Yang, Hsin-Ju Chiang, John Y Chiang, Chi-Jen Chen, Chien-Ting Liu, Cheuk-Man Yu, Hon-Kan Yip
Although cardiovascular complications are the most common cause of death in patients with autosomal-dominant polycystic kidney disease (ADPKD), the incidence and risk of aortic aneurysm and dissection (AAD) in ADPKD remains unclear due to limited data and insufficient cases. We utilized the data from Taiwan National Health Insurance Research Database (NHIRD) to do a population-based cohort study (1997-2008). After excluding those patients with age <18 years old and initially concomitant diagnoses of end-stage renal disease and AAD, a total of 2076 ADPKD patients were selected from 1,000,000 of general population...
August 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28905441/the-vasopressin-system-new-insights-for-patients-with-kidney-diseases-epidemiological-evidence-and-therapeutic-perspectives
#2
W F Clark, O Devuyst, R Roussel
People with chronic kidney disease (CKD) are at risk of severe outcomes, such as end-stage renal disease or cardiovascular disease, and CKD is a globally increasing health burden with a high personal and economic cost. Despite major progresses in prevention and therapeutics in last decades, research is still needed to reverse this epidemic trend. The regulation of water balance and the state of activation of the vasopressin system have emerged as factors tightly associated with kidney health, in the general population but also in specific conditions; among them, various stages of CKD, diabetes and autosomal dominant polycystic kidney disease (ADPKD)...
September 14, 2017: Journal of Internal Medicine
https://www.readbyqxmd.com/read/28904368/polycystin-1-inhibits-eif2%C3%AE-phosphorylation-and-cell-apoptosis-through-a-pkr-eif2%C3%AE-pathway
#3
Yan Tang, Zuocheng Wang, JungWoo Yang, Wang Zheng, Di Chen, Guanqing Wu, Richard Sandford, Jingfeng Tang, Xing-Zhen Chen
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 or PKD2 which encodes polycystin-1 (PC1) and polycystin-2, respectively. PC1 was previously shown to slow cell proliferation and inhibit apoptosis but the underlying mechanisms remain elusive or controversial. Here we showed in cultured mammalian cells and Pkd1 knockout mouse kidney epithelial cells that PC1 and its truncation mutant comprising the last five transmembrane segments and the intracellular C-terminus (PC1-5TMC) down-regulate the phosphorylation of protein kinase R (PKR) and its substrate eukaryotic translation initiation factor 2 alpha (eIF2α)...
September 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28903946/ppara-agonist-fenofibrate-enhances-fatty-acid-%C3%AE-oxidation-and-attenuates-polycystic-kidney-and-liver-disease-in-mice
#4
Ronak Lakhia, Matanel Yheskel, Andrea Flaten, Ezekiel B Quittner-Strom, William L Holland, Vishal Patel
PPARA is nuclear hormone receptor that promotes fatty acid β-oxidation (FAO) and oxidative phosphorylation (OXPHOS). We and others have recently shown that PPARA and its target genes are downregulated, and FAO and OXPHOS are impaired in autosomal dominant polycystic kidney disease (ADPKD). However, whether PPARA and FAO/OXPHOS are causally linked to ADPKD progression is not entirely clear. We report that expression of PPARA and FAO/OXPHOS genes is downregulated and in-vivo β-oxidation rate of 3H-labelled triolein is reduced in Pkd1RC/RC mice, a slowly-progressing orthologous model of ADPKD that closely mimics the human ADPKD phenotype...
September 13, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28892094/deletion-of-pkd1-in-renal-stromal-cells-causes-defects-in-the-renal-stromal-compartment-and-progressive-cystogenesis-in-the-kidney
#5
Xuguang Nie, Lois J Arend
Autosomal dominant polycystic kidney disease (ADPKD), caused by PKD1 and PKD2 gene mutations, is one of the most common genetic diseases, affecting up to 1 in 500 people. Mutations of PKD1 account for over 85% of ADPKD cases. However, mechanisms of disease progression and explanations for the wide range in disease phenotype remain to be elucidated. Moreover, functional roles of PKD1 in the renal stromal compartment are poorly understood. In this work, we tested if Pkd1 is essential for development and maintenance of the renal stromal compartment and if this role contributes to pathogenesis of polycystic kidney disease using a novel tissue-specific knockout mouse model...
September 11, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/28887310/histone-deacetylase-6-inhibition-reduces-cysts-by-decreasing-via-camp-and-ca2-in-knockout-mouse-models-of-polycystic-kidney-disease
#6
Murali K Yanda, Qiangni Liu, Valeriu Cebotaru, William B Guggino, Liudmila Cebotaru
Autosomal dominant polycystic kidney disease (ADPKD) is associated with progressive en-largement of multiple renal cysts, often leading to renal failure which cannot be prevented by an current treatment. Two proteins encoded by two genes are associated with ADPKD, PC1 (pkd1), primarily a signaling molecule, and PC2 (pkd2), a Ca2+ channel. Dysregulation of cAMP signaling is central to ADPKD but the molecular mechanism is unresolved. Here we studied the role of histone deacetylase 6 (HDAC6) in regulating cyst growth to test the possibility that in-hibiting HDAC6 might help manage ADPKD...
September 8, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28884237/relationship-between-intracranial-aneurysms-and-the-severity-of-autosomal-dominant-polycystic-kidney-disease
#7
Hiroki Yoshida, Eiji Higashihara, Keisuke Maruyama, Kikuo Nutahara, Toshiaki Nitatori, Isao Miyazaki, Yoshiaki Shiokawa
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary kidney disease characterized by the progressive enlargement of innumerable renal cysts. Although the association of intracranial aneurysms (ICANs) with ADPKD is well known, the relationship between the ICAN and the disease severity including total kidney volume (TKV) and estimated glomerular filtration rate (eGFR) is poorly understood. METHODS: We screened 265 patients with ADPKD (mean age, 48...
September 7, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28881341/the-association-of-combined-total-kidney-and-liver-volume-with-pain-and-gastrointestinal-symptoms-in-patients-with-later-stage-autosomal-dominant-polycystic-kidney-disease
#8
Hedwig M A D'Agnolo, Niek F Casteleijn, Tom J G Gevers, Hans de Fijter, Maartje D A van Gastel, Annemarie L Messchendorp, Dorien J M Peters, Mahdi Salih, Darius Soonawala, Edwin M Spithoven, Folkert W Visser, Jack F M Wetzels, Robert Zietse, Ron T Gansevoort, Joost P H Drenth
BACKGROUND: There is an ongoing debate if and how kidney and liver volume are associated with pain and gastrointestinal (GI) symptoms in autosomal dominant polycystic kidney disease (ADPKD) patients. Since both kidney and liver volume could interact, we investigated whether combined total kidney and liver volume had stronger associations with ADPKD-related pain and GI symptoms than the volumes of the organs separately. METHODS: We used baseline data from the DIPAK-1 study, which included ADPKD patients with an estimated glomerular filtration rate (eGFR) between 30 and 60 mL/min/1...
September 8, 2017: American Journal of Nephrology
https://www.readbyqxmd.com/read/28873973/effect-of-renal-transcatheter-arterial-embolization-on-quality-of-life-in-patients-with-autosomal-dominant-polycystic-kidney-disease
#9
Tatsuya Suwabe, Yoshifumi Ubara, Akinari Sekine, Toshiharu Ueno, Masayuki Yamanouchi, Noriko Hayami, Junichi Hoshino, Masahiro Kawada, Rikako Hiramatsu, Eiko Hasegawa, Naoki Sawa, Kenmei Takaichi
Background: Currently, there are few strategies for improving the quality of life (QOL) in patients with autosomal dominant polycystic kidney disease (ADPKD) and massive kidneys. Renal transcatheter arterial embolization (TAE) reduces kidney volume, but its impact on QOL in ADPKD patients on hemodialysis is unknown. This study investigated the influence of renal TAE on QOL in ADPKD patients with massive kidneys receiving hemodialysis. Methods: This prospective observational study enrolled 188 ADPKD patients on hemodialysis (92 men and 96 women; mean age 56...
July 1, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28871393/t1-vs-t2-weighted-magnetic-resonance-imaging-to-assess-total-kidney-volume-in-patients-with-autosomal-dominant-polycystic-kidney-disease
#10
Maatje D A van Gastel, A Lianne Messchendorp, Peter Kappert, Merel A Kaatee, Marissa de Jong, Remco J Renken, Gert J Ter Horst, Shekar V K Mahesh, Ron T Gansevoort
PURPOSE: In ADPKD patients total kidney volume (TKV) measurement using MRI is performed to predict rate of disease progression. Historically T1 weighted images (T1) were used, but the methodology of T2 weighted imaging (T2) has evolved. We compared the performance of both sequences. METHODS: 40 ADPKD patients underwent an abdominal MRI at baseline and follow-up. TKV was measured by manual tracing with Analyze Direct 11.0 software. Three readers established intra- and interreader coefficients of variation (CV)...
September 4, 2017: Abdominal Radiology
https://www.readbyqxmd.com/read/28870863/use-of-targeted-sequence-capture-and-high-throughput-sequencing-identifies-a-novel-pkd1-mutation-involved-in-adult-polycystic-kidney-disease
#11
Yan-Kun Sha, Yan-Wei Sha, Li-Bin Mei, Xian-Jing Huang, Xu Wang, Shao-Bin Lin, Lin Li, Ping Li
Polycystic kidney disease (PKD) is a common inherited disease that is characterized by a progressive development of renal cysts. Approximately 85% of PKD cases are due to mutations in the polycystin 1 (PKD1) gene. Here, we report a pedigree containing nine patients with autosomal dominant PKD (ADPKD). Using targeted exome sequencing of PKD1 and PKD2 genes, we identified a novel heterozygous frameshift mutation c.3976_3977insCT (p.F1326Sfs*21) in the PKD1 gene that segregated between affected and unaffected family members...
September 1, 2017: Gene
https://www.readbyqxmd.com/read/28856014/grayscale-ultrasound-characteristics-of-autosomal-dominant-polycystic-kidney-disease-severity-an-adult-and-pediatric-cohort-study
#12
Marcin Strzelczyk, Michał Podgórski, Susan Afshari, Marcin Tkaczyk, Monika Pawlak-Bratkowska, Piotr Grzelak
INTRODUCTION: The most common hereditary kidney condition is autosomal dominant polycystic kidney disease. It is the cause of 5-10% of end-stage renal disease. Its symptoms are generally late-onset, typically leading to development of hypertension and chronic kidney disease. Ultrasonography is the imaging modality of choice in its diagnosis and management. The aim of this study is to determine the diagnostic value of grayscale ultrasound imaging in evaluating disease severity. MATERIALS AND METHODS: The study group consisted of 81 patients diagnosed with autosomal dominant polycystic kidney disease, 35 adults and 46 children...
June 2017: Journal of Ultrasonography
https://www.readbyqxmd.com/read/28846875/comparison-of-mri-segmentation-techniques-for-measuring-liver-cyst-volumes-in-autosomal-dominant-polycystic-kidney-disease
#13
Zerwa Farooq, Ashkan Heshmatzadeh Behzadi, Jon D Blumenfeld, Yize Zhao, Martin R Prince
PURPOSE: To compare MRI segmentation methods for measuring liver cyst volumes in autosomal dominant polycystic kidney disease (ADPKD). METHODS: Liver cyst volumes in 42 ADPKD patients were measured using region growing, thresholding and cyst diameter techniques. Manual segmentation was the reference standard. RESULTS: Root mean square deviation was 113, 155, and 500 for cyst diameter, thresholding and region growing respectively. Thresholding error for cyst volumes below 500ml was 550% vs 17% for cyst volumes above 500ml (p<0...
July 12, 2017: Clinical Imaging
https://www.readbyqxmd.com/read/28843770/natural-history-of-intracranial-aneurysms-in-autosomal-dominant-polycystic-kidney-disease
#14
Mariusz Niemczyk, Monika Gradzik, Magda Fliszkiewicz, Andrzej Kulesza, Marek Gołębiowski, Leszek Pączek
Autosomal-dominant polycystic kidney disease (ADPKD) is a relatively frequent genetic disorder that is associated with increased prevalence of intracranial aneurysms (IAs). However, evidence on the natural history of IAs in ADPKD is suboptimal. That leads to difficulties in development of recommendations on surveillance on patients with IAs in their medical history, or the need for repeat imaging for IAs in those with a negative result of the initial screening. The aim of the article is to present our experience on the natural history of IAs in ADPKD patients...
August 18, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28838955/bosutinib-versus-placebo-for-autosomal-dominant-polycystic-kidney-disease
#15
Vladimir Tesar, Kazimierz Ciechanowski, York Pei, Irina Barash, Megan Shannon, Ray Li, Jason H Williams, Matteo Levisetti, Steven Arkin, Andreas Serra
Overactivation of Src has been linked to the pathogenesis of autosomal dominant polycystic kidney disease (ADPKD). This phase 2, multisite study assessed the efficacy and safety of bosutinib, an oral dual Src/Bcr-Abl tyrosine kinase inhibitor, in patients with ADPKD. Patients with ADPKD, eGFR≥60 ml/min per 1.73 m(2), and total kidney volume ≥750 ml were randomized 1:1:1 to bosutinib 200 mg/d, bosutinib 400 mg/d, or placebo for ≤24 months. The primary endpoint was annualized rate of kidney enlargement in patients treated for ≥2 weeks who had at least one postbaseline magnetic resonance imaging scan that was preceded by a 30-day washout (modified intent-to-treat population)...
August 24, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28838432/autosomal-dominant-polycystic-kidney-disease-transplant-recipients-after-kidney-transplantation-a-single-center-experience
#16
L Illesy, D Á Kovács, R P Szabó, A B L Asztalos, B Nemes
Kidney transplantation is indicated for end-stage renal disease. Autosomal dominant polycystic kidney disease (ADPKD) causes structural degeneration of the kidney and eventually becomes end-stage renal disease. ADPKD patients usually have several renal and nonrenal complications. We analyzed our kidney transplantation activities between 1991 and 2010 regarding ADPKD. We followed up with patients to December 31, 2016. Data were collected as patient and graft survival rates, the prevalence of polycystic manifestation of the gastrointestinal tract and other organs, and the attendance of urinary tract infection...
September 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28826940/distinct-oxylipin-alterations-in-diverse-models-of-cystic-kidney-diseases
#17
Md Monirujjaman, Jessay G Devassy, Tamio Yamaguchi, Nikhil Sidhu, Masanori Kugita, Melissa Gabbs, Shizuko Nagao, Jing Zhou, Amir Ravandi, Harold M Aukema
Cystic kidney diseases are characterized by multiple renal cysts and are the leading cause of inherited renal disease. Oxylipins are bioactive lipids derived from fatty acids formed via cyclooxygenase, lipoxygenase and cytochrome P450 activity, and are important regulators of renal health and disease. Oxylipins are altered in nephronophthisis, a type of cystic kidney disease. To further investigate and to determine whether other cystic renal diseases share these abnormalities, a targeted lipidomic analysis of renal oxylipins was performed in orthologous models of autosomal dominant polycystic kidney disease 1 (Mx1Cre(+)Pkd1(flox/flox) mouse) and 2 (Pkd2(ws25/-) mouse), autosomal recessive polycystic kidney disease (PCK rat) and nephronophthisis (jck/jck mouse)...
August 18, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28810844/effect-of-tolvaptan-on-renal-handling-of-water-and-sodium-gfr-and-central-hemodynamics-in-autosomal-dominant-polycystic-kidney-disease-during-inhibition-of-the-nitric-oxide-system-a-randomized-placebo-controlled-double-blind-crossover-study
#18
Safa Al Therwani, My Emma Sofie Malmberg, Jeppe Bakkestroem Rosenbaek, Jesper Noergaard Bech, Erling Bjerregaard Pedersen
BACKGROUND: Tolvaptan slows progression of autosomal dominant polycystic kidney disease (ADPKD) by antagonizing the vasopressin-cAMP axis. Nitric oxide (NO) stimulates natriuresis and diuresis, but its role is unknown during tolvaptan treatment in ADPKD. METHODS: Eighteen patients with ADPKD received tolvaptan 60 mg or placebo in a randomized, placebo-controlled, double blind, crossover study. L-NMMA (L-NG-monomethyl-arginine) was given as a bolus followed by continuous infusion during 60 min...
August 15, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28810583/kidney-dysfunction-following-adrenalectomy-in-autosomal-dominant-polycystic-kidney-disease-complicated-with-primary-aldosteronism-a-case-report
#19
Hiroyuki Hirai, Makoto Kanno, Tsuyoshi Watanabe, Hiroaki Satoh
The present study reported a case of autosomal dominant polycystic kidney disease complicated with primary aldosteronism in a 49-year-old woman. The patient was referred for refractory hypertension. Laboratory examinations revealed low potassium and renin levels. Computed tomography indicated a right adrenal tumor and multiple renal cysts. Adrenal vein sampling revealed a high aldosterone level on the side of the tumor. The patient was diagnosed with autosomal dominant polycystic kidney disease complicated by primary aldosteronism and adrenalectomy was performed...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28806944/real-world-costs-of-autosomal-dominant-polycystic-kidney-disease-in-the-nordics
#20
Daniel Eriksson, Linda Karlsson, Oskar Eklund, Hans Dieperink, Eero Honkanen, Jan Melin, Kristian Selvig, Johan Lundberg
BACKGROUND: There is limited real-world data on the economic burden of patients with autosomal dominant polycystic kidney disease (ADPKD). The objective of this study was to estimate the annual direct and indirect costs of patients with ADPKD by severity of the disease: chronic kidney disease (CKD) stages 1-3; CKD stages 4-5; transplant recipients; and maintenance dialysis patients. METHODS: A retrospective study of ADPKD patients was undertaken April-December 2014 in Denmark, Finland, Norway and Sweden...
August 15, 2017: BMC Health Services Research
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