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autosomal dominant polycystic kidney

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https://www.readbyqxmd.com/read/28645206/catheter-based-renal-denervation-as-therapy-for-chronic-severe-kidney-related-pain
#1
Rosa L de Jager, Niek F Casteleijn, Esther de Beus, Michiel L Bots, Evert-Jan E Vonken, Ron T Gansevoort, Peter J Blankestijn
Background: Loin pain haematuria syndrome (LPHS) and autosomal dominant polycystic kidney disease (ADPKD) are the most important non-urological conditions to cause chronic severe kidney-related pain. Multidisciplinary programmes and surgical methods have shown inconsistent results with respect to pain reduction. Percutaneous catheter-based renal denervation (RDN) could be a less invasive treatment option for these patients. Methods: Our aim was to explore the change in perceived pain and use of analgesic medication from baseline to 3, 6 and 12 months after RDN...
June 22, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28640449/polycystic-kidney-disease
#2
Joseph Ghata, Benjamin D Cowley
Renal cysts, which arise from renal tubules, can be seen in a variety of hereditary and nonhereditary entities. Common mechanisms associated with renal cyst formation include increased cell proliferation, epithelial fluid secretion, and extracellular matrix remodeling. Hereditary polycystic kidney disease (PKD) is seen as a component of numerous diseases. Autosomal dominant (AD) PKD is the most common potentially fatal hereditary disease in humans, causes renal failure in approximately 50% of affected individuals, and accounts for approximately 5% of end stage renal disease cases in the United States...
June 18, 2017: Comprehensive Physiology
https://www.readbyqxmd.com/read/28637589/elevated-factor-h-related-protein-1-and-factor-h-pathogenic-variants-decrease-complement-regulation-in%C3%A2-iga-nephropathy
#3
Agustín Tortajada, Eduardo Gutiérrez, Elena Goicoechea de Jorge, Jaouad Anter, Alfons Segarra, Mario Espinosa, Miquel Blasco, Elena Roman, Helena Marco, Luis F Quintana, Josué Gutiérrez, Sheila Pinto, Margarita Lopez-Trascasa, Manuel Praga, Santiago Rodriguez de Córdoba
IgA nephropathy (IgAN), a frequent cause of chronic kidney disease worldwide, is characterized by mesangial deposition of galactose-deficient IgA1-containing immune complexes. Complement involvement in IgAN pathogenesis is suggested by the glomerular deposition of complement components and the strong protection from IgAN development conferred by the deletion of the CFHR3 and CFHR1 genes (ΔCFHR3-CFHR1). Here we searched for correlations between clinical progression and levels of factor H (FH) and FH-related protein 1 (FHR-1) using well-characterized patient cohorts consisting of 112 patients with IgAN, 46 with non-complement-related autosomal dominant polycystic kidney disease (ADPKD), and 76 control individuals...
June 18, 2017: Kidney International
https://www.readbyqxmd.com/read/28628430/autosomal-dominant-polycystic-kidney-disease-and-the-heart-and-brain
#4
REVIEW
Vinod Krishnappa, Poornima Vinod, Divya Deverakonda, Rupesh Raina
Autosomal dominant polycystic kidney disease (ADPKD) has numerous systemic manifestations and complications. This article gives an overview of hypertension, cardiac complications, and intracranial aneurysms in ADPKD, their pathophysiology, and recent developments in their management.
June 2017: Cleveland Clinic Journal of Medicine
https://www.readbyqxmd.com/read/28620080/the-sorting-nexin-3-retromer-pathway-regulates-the-cell-surface-localization-and-activity-of-a-wnt-activated-polycystin-channel-complex
#5
Shuang Feng, Andrew J Streets, Vasyl Nesin, Uyen Tran, Hongguang Nie, Marta Onopiuk, Oliver Wessely, Leonidas Tsiokas, Albert C M Ong
Autosomal dominant polycystic kidney disease (ADPKD) is caused by inactivating mutations in PKD1 (85%) or PKD2 (15%). The ADPKD proteins encoded by these genes, polycystin-1 (PC1) and polycystin-2 (PC2), form a plasma membrane receptor-ion channel complex. However, the mechanisms controlling the subcellular localization of PC1 and PC2 are poorly understood. Here, we investigated the involvement of the retromer complex, an ancient protein module initially discovered in yeast that regulates the retrieval, sorting, and retrograde transport of membrane receptors...
June 15, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28616208/patient-survey-of-current-water-intake-practices-in-autosomal-dominant-polycystic-kidney-disease-the-sips-survey
#6
Ragada El-Damanawi, Tess Harris, Richard N Sandford, Fiona E Karet Frankl, Thomas F Hiemstra
Background: Autosomal dominant polycystic kidney disease (ADPKD) affects 12.5 million worldwide. Vasopressin drives cysts growth and in animal models can be suppressed through high water intake. A randomized controlled trial of 'high' versus 'standard' water intake in ADPKD is essential to determine if this intervention is beneficial. We conducted an ADPKD patient survey to gain an understanding of current fluid intake practices and the design challenges of a randomized water intake trial. Methods: In collaboration with the PKD Charity, we developed and distributed an online survey to ADPKD patients over age 16 years and not on renal replacement therapy...
June 2017: Clinical Kidney Journal
https://www.readbyqxmd.com/read/28615245/the-regulatory-1%C3%AE-subunit-of-protein-kinase-a-modulates-renal-cystogenesis
#7
Hong Ye, Xiaofang Wang, Megan M Constans, Caroline R Sussman, Fouad Chebib, Maria V Irazabal, William F Young, Peter C Harris, Lawrence S Kirschner, Vicente E Torres
The failure of the polycystins (PCs) to function in primary cilia is thought to be responsible for Autosomal Dominant Polycystic Kidney Disease (ADPKD). Primary cilia integrate multiple cellular signaling pathways, including calcium, cAMP, Wnt, and Hedgehog, which control cell proliferation and differentiation. It has been proposed that mutated PCs result in reduced intracellular calcium, which in turn upregulates cAMP, protein kinase A (PKA) signaling, and subsequently other proliferative signaling pathways...
June 14, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28614813/polycystic-kidney-disease-and-the-vasopressin-pathway
#8
Maatje D A van Gastel, Vicente E Torres
Vasopressin, also known as arginine vasopressin or antidiuretic hormone, plays a pivotal role in maintaining body homeostasis. Increased vasopressin concentrations, measured by its surrogate copeptin, have been associated with disease severity as well as disease progression in polycystic kidney disease (PKD), and in experimental studies vasopressin has been shown to directly regulate cyst growth. Blocking vasopressin effects on the kidney via the vasopressin V2-receptor and lower circulating vasopressin concentration are potential treatment opportunities that have been the subject of study in PKD in recent years...
2017: Annals of Nutrition & Metabolism
https://www.readbyqxmd.com/read/28612004/extracranial-aneurysms-in-2-patients-with-autosomal-recessive-polycystic-kidney-disease
#9
Daniel S Elchediak, Anne Marie Cahill, Emma E Furth, Bernard S Kaplan, Erum A Hartung
Unlike autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD) is not generally known to be associated with vascular abnormalities. Only 4 cases of ARPKD patients with intracranial aneurysms have been reported previously. We present 2 ARPKD patients with extracranial vascular abnormalities: a young man with infrarenal aortic and iliac artery aneurysms complicated by dissection and a teenage girl with multiple splenic and gastric artery aneurysms and arterial vascular malformations...
May 2017: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/28611533/functional-budd-chiari-syndrome-associated-with-severe-polycystic-liver-disease
#10
Precil Diego Miranda de Menezes Neves, Bruno Eduardo Pedroso Balbo, Elieser Hitoshi Watanabe, Vinicius Rocha-Santos, Wellington Andraus, Luiz Augusto Carneiro D'Albuquerque, Luiz Fernando Onuchic
A 50-year-old woman with end-stage renal disease secondary to autosomal dominant polycystic kidney disease was referred to a quaternary care center due to significantly increased abdominal girth. Her physical examination revealed tense ascites and abdominal collateral veins. A 10-L paracentesis improved abdominal discomfort and disclosed a transudate, suggestive of portal hypertension. A computed tomographic scan revealed massive hepatomegaly caused by multiple cysts of variable sizes, distributed throughout all hepatic segments...
2017: Clinical Medicine Insights. Gastroenterology
https://www.readbyqxmd.com/read/28606406/-quality-of-life-in-patients-with-autosomal-dominant-polycystic-kidney-disease
#11
Laurent Lecardeur, Dominique Joly
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disease that usually occurs in adulthood. The majority of affected patients will develop renal complications related to cysts during their life, but may sometimes also develop severe extrarenal complications. The aim of this study is to review quantitative and qualitative results of researches that have investigated quality of life of patients suffering ADPKD. The results obtained with health-relative quality of life scales are contradictory and lack of sensibility according to the special features of ADPKD, for psychological impact for instance...
June 9, 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/28606296/-autosomal-dominant-polycystic-kidney-disease
#12
Signe Vinsand Naver, Bjarne Ørskov, Anja Møller Jensen, Martin Egfjord
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disorder which causes end stage renal disease. In Denmark, estimated 5,000 patients are living with the disease. Most of the patients are in regular contact with physicians due to the progression of kidney failure causing hypertension as well as cyst infections, back pain, abdominal distension and other symptoms caused by the enlarged kidneys. In this article we describe the clinical presentation, the genetics, the pathophysiology and the current and future treatment modalities of the disease...
June 12, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28604956/-analysis-of-pkd1-gene-mutation-in-a-family-affected-with-autosomal-dominant-polycystic-kidney-disease
#13
Jin Mei, Min Wang, Hao Wang, Lidan Zhang, Pan Zhang
OBJECTIVE: To determine the molecular etiology for a family affected with autosomal dominant polycystic kidney disease and provide prenatal diagnosis for the family. METHODS: Clinical data of the family was collected. Target region sequencing with monogenetic disorders capture array combined with Sanger sequencing and bioinformatics analysis were performed in turn. SIFT and NCB1 were used to evaluate the conservation of the gene and pathogenicity of the identified mutation...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28604386/lysine-methyltransferase-smyd2-promotes-cyst-growth-in-autosomal-dominant-polycystic-kidney-disease
#14
Linda Xiaoyan Li, Lucy X Fan, Julie Xia Zhou, Jared J Grantham, James P Calvet, Julien Sage, Xiaogang Li
Autosomal dominant polycystic kidney disease (ADPKD) is driven by mutations in PKD1 and PKD2 genes. Recent work suggests that epigenetic modulation of gene expression and protein function may play a role in ADPKD pathogenesis. In this study, we identified SMYD2, a SET and MYND domain protein with lysine methyltransferase activity, as a regulator of renal cyst growth. SMYD2 was upregulated in renal epithelial cells and tissues from Pkd1-knockout mice as well as in ADPKD patients. SMYD2 deficiency delayed renal cyst growth in postnatal kidneys from Pkd1 mutant mice...
June 12, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28601384/polycystin-and-calcium-signaling-in-cell-death-and-survival
#15
REVIEW
Fernanda O Lemos, Barbara E Ehrlich
Mutations in polycystin-1 (PC1) and polycystin-2 (PC2) result in a commonly occurring genetic disorder, called Autosomal Dominant Polycystic Kidney Disease (ADPKD), that is characterized by the formation and development of kidney cysts. Epithelial cells with loss-of-function of PC1 or PC2 show higher rates of proliferation and apoptosis and reduced autophagy. PC1 is a large multifunctional transmembrane protein that serves as a sensor that is usually found in complex with PC2, a calcium (Ca(2+))-permeable cation channel...
May 24, 2017: Cell Calcium
https://www.readbyqxmd.com/read/28583565/role-of-urinary-neutrophil-gelatinase-associated-lipocalin-for-predicting-the-severity-of-renal-functions-in-patients-with-autosomal-dominant-polycystic-kidney-disease
#16
K Vareesangthip, K Vareesangthip, C Limwongse, K Reesukumal
BACKGROUND: Autosomal-dominant polycystic kidney disease (ADPKD) has a feature of disruption of tubular integrity with increased cellular proliferation and apoptosis. There are several known tubular membrane proteins in the pathogenesis of ADPKD, and one of these proteins is the neutrophil gelatinase-associated lipocalin (NGAL). NGAL is a protein expressed on renal tubular cells of which production is markedly increased in response to harmful stimuli such as ischemia or toxicity. OBJECTIVE: We aim to study whether urinary NGAL levels could be used as a marker to identify the severity of ADPKD in patients...
June 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28577737/-screening-and-management-of-intracranial-aneurisms-in-patients-with-autosomal-dominant-polycystic-kidney-disease
#17
REVIEW
Adrien Flahault, Bertrand Knebelmann, François Nataf, Denis Trystram, Jean-Pierre Grünfeld, Dominique Joly
Autosomal dominant polycystic kidney disease is the most frequent hereditary kidney disease. Intracranial aneurysm prevalence in this population is four to five times higher than the prevalence in the general population. The most frequent complication of intracranial aneurysms is rupture with subarachnoidal hemorrhage, which is associated with a high morbidity and mortality. The only identified risk factor for unruptured intracranial aneurysm is a family history of intracranial aneurysm. However, most cases of aneurysm rupture occur without any family history of intracranial aneurysm...
April 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/28565035/clinical-experience-with-wbc-pet-ct-in-adpkd-patients-with-suspected-cyst-infection-a-prospective-case-series
#18
Hyunsuk Kim, Yun Kyu Oh, Hayne Cho Park, Seokwoo Park, Soojin Lee, Ho-Young Lee, Young-Hwan Hwang, Curie Ahn
AIMS: Cyst infection (CI) is a common problem in patients with autosomal dominant polycystic kidney disease (ADPKD). Localization is of great importance in CI. We describe the clinical experience with [18F] FDG-labeled white-blood cell (WBC) PET/CT in detecting CI in ADPKD. METHODS: 19 ADPKD patients (M:F = 7:12) suspected of having CI were enrolled in this prospective study. All underwent WBC-PET/CT and MRI or CT. The degree of their WBC accumulation was evaluated from the maximal standardized uptake value of cystic wall...
May 31, 2017: Nephrology
https://www.readbyqxmd.com/read/28560694/role-of-apoptosis-in-the-development-of-autosomal-dominant-polycystic-kidney-disease-adpkd
#19
REVIEW
Lukas Peintner, Christoph Borner
Autosomal dominant polycystic kidney disease (ADPKD) is a widespread genetic disorder in the Western world and is characterized by cystogenesis that often leads to end-stage renal disease (ESRD). Mutations in the pkd1 gene, encoding for polycystin-1 (PC1) and its interaction partner pkd2, encoding for polycystin-2 (PC2), are the main drivers of this disease. PC1 and PC2 form a multiprotein membrane complex at cilia sites of the plasma membrane and at intracellular membranes. This complex mediates calcium influx and stimulates various signaling pathways regulating cell survival, proliferation and differentiation...
July 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28558802/serum-micro-rna-profiles-in-patients-with-autosomal-dominant-polycystic-kidney-disease-according-to-hypertension-and-renal-function
#20
Ismail Kocyigit, Serpil Taheri, Elif Funda Sener, Eray Eroglu, Fahir Ozturk, Aydin Unal, Kezban Korkmaz, Gokmen Zararsiz, Murat Hayri Sipahioglu, Yusuf Ozkul, Bulent Tokgoz, Oktay Oymak, Tevfik Ecder, Jonas Axelsson
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a common hereditary disorder with unclear disease mechanism. Currently, overt hypertension and increased renal volume are the best predictors of renal function. In this study, we assessed the usefulness of selected circulating microRNAs (miRs) to predict disease progress in a cohort with ADPKD. METHODS: Eighty ADPKD patients (44.6 ± 12.7 years, 40% female, 65% hypertensive) and 50 healthy subjects (HS; 45...
May 30, 2017: BMC Nephrology
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