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https://www.readbyqxmd.com/read/29779043/glis1-3-transcription-factors-critical-roles-in-the-regulation-of-multiple-physiological-processes-and-diseases
#1
REVIEW
Anton M Jetten
Krüppel-like zinc finger proteins form one of the largest families of transcription factors. They function as key regulators of embryonic development and a wide range of other physiological processes, and are implicated in a variety of pathologies. GLI-similar 1-3 (GLIS1-3) constitute a subfamily of Krüppel-like zinc finger proteins that act either as activators or repressors of gene transcription. GLIS3 plays a critical role in the regulation of multiple biological processes and is a key regulator of pancreatic β cell generation and maturation, insulin gene expression, thyroid hormone biosynthesis, spermatogenesis, and the maintenance of normal kidney functions...
May 19, 2018: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/29779024/a-randomized-clinical-trial-of-metformin-to-treat-autosomal-dominant-polycystic-kidney-disease
#2
Stephen L Seliger, Kaleab Z Abebe, Kenneth R Hallows, Dana C Miskulin, Ronald D Perrone, Terry Watnick, Kyongtae Tae Bae
BACKGROUND: Metformin inhibits cyclic AMP generation and activates AMP-activated protein kinase (AMPK), which inhibits the cystic fibrosis transmembrane conductance regulator and Mammalian Target of Rapamycin pathways. Together these effects may reduce cyst growth in autosomal dominant polycystic kidney disease (ADPKD). METHODS: A phase II, double-blinded randomized placebo-controlled trial of 26 months duration. Participants will include nondiabetic adults (n = 96) aged 18-60 years, with an estimated glomerular filtration rate (eGFR) ≥50 mL/min/1...
May 18, 2018: American Journal of Nephrology
https://www.readbyqxmd.com/read/29770853/predominantly-cystic-clear-cell-renal-cell-carcinoma-and-multilocular-cystic-renal-neoplasm-of-low-malignant-potential-form-a-low-grade-spectrum
#3
Maria Tretiakova, Vikas Mehta, Masha Kocherginsky, Agata Minor, Steven S Shen, Sahussapont Joseph Sirintrapun, Jorge L Yao, Isabel Alvarado-Cabrero, Tatjana Antic, Scott E Eggener, Maria M Picken, Gladell P Paner
Multilocular cystic renal cell carcinoma has been recently excluded from clear cell renal cell carcinoma (CCRCC) category and re-designated as multilocular cystic renal neoplasm of low malignant potential (MCRNLMP) due to its uniformly good outcomes. While strict distinction between MCRNLMP from predominantly cystic CCRCC (pc-CCRCC) is being emphasized, the significance of extensive true cystic component in CCRCC has not been investigated. Herein, we analyzed 57 MCRNLMP, 69 pc-CCRCC, and 46 non-cystic CCRCC...
May 17, 2018: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/29768287/ultrasound-computed-tomography-and-magnetic-resonance-imaging-in-a-patient-with-medullary-cystic-kidney-disease
#4
Gilbert Whang, Hisham Tchelepi
Among the renal cystic diseases that result in end-stage renal disease, an important hereditary cause is medullary cystic kidney disease, which affects adults in an autosomal dominant pattern. It is characterized by progressive renal failure, tubulointerstitial fibrosis, and formation of small cysts in the renal medulla and corticomedullary junction. While the appearance of medullary/corticomedullary cysts may not be pathognomonic for medullary cystic kidney disease, encountering a patient with renal failure and medullary/corticomedullary cysts should prompt further investigation, given the implication of having the disease...
May 15, 2018: Ultrasound Quarterly
https://www.readbyqxmd.com/read/29767557/polycystin-1-dysfunction-impairs-electrolyte-and-water-handling-in-a-renal-pre-cystic-mouse-model-for-adpkd
#5
Eric H J Verschuren, Sami G Mohammed, Wouter N Leonhard, Caro Overmars-Bos, Kimberly A M Veraar, Joost G J Hoenderop, René J M Bindels, Dorien J M Peters, Francisco J Arjona
The PKD1 gene encodes polycystin-1 (PC1), a mechanosensor triggering intracellular responses upon urinary flow sensing in kidney tubular cells. Mutations in PKD1 lead to autosomal dominant polycystic kidney disease (ADPKD). The involvement of PC1 in renal electrolyte handling remains unknown since renal electrolyte physiology in ADPKD patients has only been characterized in cystic ADPKD. We thus studied the renal electrolyte handling in inducible kidney-specific Pkd1 knockout (iKsp-Pkd1-/-) mice manifesting a pre-cystic phenotype...
May 16, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29764427/col4a5-and-lama5-variants-co-inherited-in-familial-hematuria-digenic-inheritance-or-genetic-modifier-effect
#6
Konstantinos Voskarides, Gregory Papagregoriou, Despina Hadjipanagi, Ioanelli Petrou, Isavella Savva, Avraam Elia, Yiannis Athanasiou, Androulla Pastelli, Maria Kkolou, Michalis Hadjigavriel, Christoforos Stavrou, Alkis Pierides, Constantinos Deltas
BACKGROUND: About 40-50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the full phenotypic spectrum of these patients varies a lot, ranging from isolated MH or MH plus low-grade proteinuria to chronic renal failure of variable degree, including end-stage renal disease (ESRD). METHODS: Here, we performed Whole Exome Sequencing (WES) in patients of six families, presenting with autosomal dominant FMH, with or without progression to proteinuria and loss of renal function, all previously found negative for severe collagen IV mutations...
May 16, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29746821/lansoprazole-reduces-renal-cyst-in-polycystic-kidney-disease-via-inhibition-of-cell-proliferation-and-fluid-secretion
#7
Jiriporn Nantavishit, Varanuj Chatsudthipong, Sunhapas Soodvilai
Renal cyst development and expansion in autosomal dominant polycystic kidney disease (ADPKD) is mediated by abnormal cyst-ling cell proliferation and fluid accumulation. Liver X receptor (LXR)-activating ligands suppresses renal cyst enlargement by modulation of cysticfibrosis transmembrane conductance regulator (CFTR)-mediated fluid accumulation. Lansoprazole has been reported as agonist of LXR, and shows an anti-proliferative effect in cancer cells. Here, lansoprazole's pharmacological effect and underlying mechanism on renal cyst development and expansion in in vitro; human ADPKD cyst-lining epithelial cell line and Type I Mardin Darby Canine Kidney (MDCK) cells, and in vivo models was investigated...
May 7, 2018: Biochemical Pharmacology
https://www.readbyqxmd.com/read/29734148/new-insights-into-cystic-kidney-diseases
#8
Toshio Mochizuki, Shiho Makabe, Yumi Aoyama, Hiroshi Kataoka, Kosaku Nitta
Hereditary cystic kidney diseases are considered as "ciliopathies" caused by abnormalities of the "primary cilia" situated on the tubules. As a result of dysplasia and dysfunction of cilia, formation of cysts occurs at various stages of life. Although occurring at a low incidence, hereditary cystic kidney diseases that develop from the fetal stage to childhood are diverse and are often associated with systemic disorders. The incidence of autosomal dominant polycystic kidney disease, which is the only adult-onset hereditary cystic kidney disease, is the highest among hereditary renal disorders...
2018: Contributions to Nephrology
https://www.readbyqxmd.com/read/29717938/comparison-of-folate-conjugated-rapamycin-versus-unconjugated-rapamycin-in-an-orthologous-mouse-model-of-polycystic-kidney-disease
#9
Kevin R Kipp, Samantha L Kruger, Margaret F Schimmel, Nikki Parker, Jonathan M Shillingford, Christopher P Leamon, Thomas Weimbs
Autosomal-dominant polycystic kidney disease (ADPKD) is a very common genetic disease leading to renal failure. Numerous aberrantly regulated signaling pathways have been identified as promising molecular drug targets for ADPKD therapy. In rodent models, many small-molecule drugs against such targets have proven effective in reducing renal cyst growth. For example, mTOR inhibition with rapamycin greatly ameliorates renal cystic disease in several rodent models. However, clinical trials with mTOR inhibitors were disappointing largely due to the intolerable extra-renal side effects during long-term treatment with these drugs...
May 2, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29717526/nephronophthisis-a-review-of-genotype-phenotype-correlation
#10
REVIEW
Fenglan Luo, Yuhong Tao
Nephronophthisis is an autosomal recessive cystic kidney disease and one of the most common genetic disorders causing end-stage renal disease in children. Nephronophthisis is a genetically heterogenous disorder with more than 25 identified genes. In 10%-20% of cases, there are additional features of a ciliopathy syndrome, such as retinal defects, liver fibrosis, skeletal abnormalities, and brain developmental disorders. This review provides an update of the recent advances in the clinical features and related gene mutations of nephronophthisis, and novel approaches for therapy in nephronophthisis patients may be needed...
May 1, 2018: Nephrology
https://www.readbyqxmd.com/read/29716997/long-noncoding-rna-hoxb3os-is-dysregulated-in-autosomal-dominant-polycystic-kidney-disease-and-regulates-mtor-signaling
#11
Karam Aboudehen, Shayan Farahani, Mohammed Kanchwala, Siu Chiu Chan, Svetlana Avdulov, Alan Mickelson, Dayeon Lee, Micah D Gearhart, Vishal Patel, Chao Xing, Peter Igarashi
Autosomal dominant polycystic kidney disease (ADPKD) is a debilitating disease that is characterized by the accumulation of numerous fluid-filled cysts in the kidney. ADPKD is primarily caused by mutations in two genes, PKD1 and PKD2. Long noncoding RNAs (lncRNA) - defined by a length >200 nucleotides and absence of a long open reading frame - have recently emerged as epigenetic regulators of development and disease; however, their involvement in PKD has not been explored previously. Here, we performed deep RNA sequencing to identify lncRNAs that are dysregulated in two orthologous mouse models of ADPKD (kidney-specific Pkd1 and Pkd2 mutant mice)...
May 1, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29706351/monoallelic-mutations-to-dnajb11-cause-atypical-autosomal-dominant-polycystic-kidney-disease
#12
Emilie Cornec-Le Gall, Rory J Olson, Whitney Besse, Christina M Heyer, Vladimir G Gainullin, Jessica M Smith, Marie-Pierre Audrézet, Katharina Hopp, Binu Porath, Beili Shi, Saurabh Baheti, Sarah R Senum, Jennifer Arroyo, Charles D Madsen, Claude Férec, Dominique Joly, François Jouret, Oussamah Fikri-Benbrahim, Christophe Charasse, Jean-Marie Coulibaly, Alan S Yu, Korosh Khalili, York Pei, Stefan Somlo, Yannick Le Meur, Vicente E Torres, Peter C Harris
Autosomal-dominant polycystic kidney disease (ADPKD) is characterized by the progressive development of kidney cysts, often resulting in end-stage renal disease (ESRD). This disorder is genetically heterogeneous with ∼7% of families genetically unresolved. We performed whole-exome sequencing (WES) in two multiplex ADPKD-like pedigrees, and we analyzed a further 591 genetically unresolved, phenotypically similar families by targeted next-generation sequencing of 65 candidate genes. WES identified a DNAJB11 missense variant (p...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29686834/limitations-of-ct-scanning-in-bosniak-staging-of-renal-cystic-carcinoma
#13
A S Wasim, F Mumtaz
The Bosniak Classification is used to quantify the risk of malignancy and need for observation or radical treatment based on the findings of computed tomography (CT). The case described is that of a 65-year-old man with renal cystic disease who was initially given a Bosniak stage IIF classification and was subsequently managed with CT surveillance. CT surveillance showed increased cyst size in the left kidney with cystic changes, however, the Bosniak classification remained the same. It was not until the patient deteriorated further that an MRI was indicated...
April 2018: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/29685496/are-pax-proteins-potential-therapeutic-targets-in-kidney-disease-and-cancer
#14
REVIEW
Edward Grimley, Gregory R Dressler
Pax genes encode developmental regulators that are expressed in a variety of tissues and control critical events in morphogenesis. In the kidney, Pax2 and Pax8 are expressed in embryonic development and in specific renal diseases associated with aberrant epithelial cell proliferation. Prior genetic and cell biological studies suggest that reducing the activity of Pax proteins in renal cancer or in polycystic kidney disease can slow the progression of these conditions. The Pax proteins may be critical for providing tissue and locus specificity to recruit epigenetic modifiers that control gene expression and chromatin structure...
April 20, 2018: Kidney International
https://www.readbyqxmd.com/read/29684175/aminoglycoside-exposure-and-renal-function-before-lung-transplantation-in-adult-cystic-fibrosis-patients
#15
Etienne Novel-Catin, Solenne Pelletier, Quitterie Reynaud, Raphaele Nove-Josserand, Stephane Durupt, Laurence Dubourg, Isabelle Durieu, Denis Fouque
Background: Patients with cystic fibrosis (CF) are at risk of kidney injury even before undergoing lung transplantation, because of prolonged exposure to aminoglycosides (AGs), chronic dehydration and complications of diabetes mellitus. The usual equations estimating the glomerular filtration rate (GFR), such as Cockcroft-Gault and Modification of Diet in Renal Disease, are not adapted to the CF population due to patients' low body weight and reduced muscle mass. The aim of this study was to precisely measure GFR in adult CF patients and to see whether repeated AG treatment would impair renal function before lung transplantation...
April 18, 2018: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/29668475/rare-renal-disease-in-macedonia-an-update
#16
Velibor Tasic, Zoran Gucev, Momir Polenakovic
Rare renal diseases (RRD) are an important category of rare disease (RD) as they can do great damage to the patients, families and society. The patient may undergo years even decades of numerous investigations including invasive procedures and yet not have definitive and precise diagnose and therefore, no opportunity for appropriate treatment. The great progress in molecular genetic techniques characterized many Mendelian diseases on molecular level. This gave the possibility for appropriate prevention and treatment interventions, genetic counseling and prenatal diagnosis...
December 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/29643536/-genetic-diagnosis-of-caroli-syndrome-with-autosomal-recessive-polycystic-kidney-disease-a-case-report-and-literature-review
#17
X Y Yang, L P Zhu, X Q Liu, C Y Zhang, Y Yao, Y Wu
This case report is about one genetically specified diagnosed infant case of Caroli syndrome with autosomal recessive polycystic kidney disease (ARPKD) in China. The patient in this case report was an eight-month infant boy with an atypical onset and the main clinical manifestation was non-symptomatic enlargement of the liver and kidneys. The imaging study demonstrated a diffused cystic dilatation of intrahepatic bile ducts as well as polycystic changes in bilateral kidneys. The basic blood biochemical tests indicated a normal hepatorenal function...
April 18, 2018: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29629868/computed-tomography-identified-factors-that-preclude-living-kidney-donation
#18
Katerina Mastrocostas, Christina M Chingkoe, Kenneth T Pace, Joseph J Barfett, Anish Kirpalani, Gevork N Mnatzakanian, Paraskevi A Vlachou, Errol Colak
INTRODUCTION: The purpose of this study was to determine the variety and prevalence of renal and non-renal abnormalities detected on multi-detector computed tomography (MDCT) that precluded patients from donating a kidney. METHODS: Institutional review board approval was obtained and the requirement for informed consent was waived. A retrospective, single-centre review of 701 patients (444 female, 257 male; age range 18-86 years; mean age 43.2±11.9 years) that underwent renal donor protocol MDCT was conducted...
April 6, 2018: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/29626631/ift25-is-not-a-cystic-kidney-disease-gene-but-is-required-for-early-steps-of-kidney-development
#19
Paurav B Desai, Jovenal T San Agustin, Michael W Stuck, Julie A Jonassen, Carlton M Bates, Gregory J Pazour
Eukaryotic cilia are assembled by intraflagellar transport (IFT) where large protein complexes called IFT particles move ciliary components from the cell body to the cilium. Defects in most IFT particle proteins disrupt ciliary assembly and cause mid gestational lethality in the mouse. IFT25 and IFT27 are unusual components of IFT-B in that they are not required for ciliary assembly and mutant mice survive to term. The mutants die shortly after birth with numerous organ defects including duplex kidneys. Completely duplex kidneys result from defects in ureteric bud formation at the earliest steps of metanephric kidney development...
April 4, 2018: Mechanisms of Development
https://www.readbyqxmd.com/read/29623269/cystic-kidney-diseases-from-the-adult-nephrologist-s-point-of-view
#20
REVIEW
Roman-Ulrich Müller, Thomas Benzing
Cystic kidney diseases affect patients of all age groups with the onset spanning from prenatal disease to late adulthood. Autosomal-dominant polycystic kidney disease (ADPKD) is by far the most common renal cystic disease. However, there are various cystic kidney diseases, the onset of which occurs at different times in life and depends on the type of the disease and the causative genes involved. When genetic kidney diseases are discussed in the adult setting this view is usually limited on autosomal-dominant kidney disease, the most frequent genetic disorder causing adult onset ESRD...
2018: Frontiers in Pediatrics
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