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Polycystic kidney disease

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https://www.readbyqxmd.com/read/28630289/green-mamba-peptide-targets-type-2-vasopressin-receptor-against-polycystic-kidney-disease
#1
Justyna Ciolek, Helen Reinfrank, Loïc Quinton, Say Viengchareun, Enrico A Stura, Laura Vera, Sabrina Sigismeau, Bernard Mouillac, Hélène Orcel, Steve Peigneur, Jan Tytgat, Laura Droctové, Fabrice Beau, Jerome Nevoux, Marc Lombès, Gilles Mourier, Edwin De Pauw, Denis Servent, Christiane Mendre, Ralph Witzgall, Nicolas Gilles
Polycystic kidney diseases (PKDs) are genetic disorders that can cause renal failure and death in children and adults. Lowering cAMP in cystic tissues through the inhibition of the type-2 vasopressin receptor (V2R) constitutes a validated strategy to reduce disease progression. We identified a peptide from green mamba venom that exhibits nanomolar affinity for the V2R without any activity on 155 other G-protein-coupled receptors or on 15 ionic channels. Mambaquaretin-1 is a full antagonist of the V2R activation pathways studied: cAMP production, beta-arrestin interaction, and MAP kinase activity...
June 19, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28628430/autosomal-dominant-polycystic-kidney-disease-and-the-heart-and-brain
#2
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/28621010/diversity-of-renal-phenotypes-in-patients-with-wdr19-mutations-two-case-reports
#3
Takahisa Yoshikawa, Koichi Kamei, Hiroko Nagata, Ken Saida, Mai Sato, Masao Ogura, Shuichi Ito, Osamu Miyazaki, Maki Urushihara, Shuji Kondo, Noriko Sugawara, Kiyonobu Ishizuka, Yuko Hamasaki, Seiichiro Shishido, Naoya Morisada, Kazumoto Iijima, Michio Nagata, Takako Yoshioka, Kentaro Ogata, Kenji Ishikura
WDR19 has been reported as a causative gene of nephronophthisis-related ciliopathies. Patients with WDR19 mutations can show various extrarenal manifestations such as skeletal disorders, Caroli disease, and retinal dystrophy, and typically display nephronophthisis as a renal phenotype. However, there is limited information on the renal phenotypes of patients with WDR19 mutations. We report two Japanese infants with Sensenbrenner syndrome caused by WDR19 mutations who demonstrated different features in renal ultrasound and histopathological results, despite several common extrarenal manifestations...
July 2017: Nephrology
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
#4
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
#5
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
#6
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
#7
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/28614117/role-of-amp-activated-protein-kinase-in-kidney-tubular-transport-metabolism-and-disease
#8
Roshan Rajani, Nuria M Pastor-Soler, Kenneth R Hallows
PURPOSE OF REVIEW: AMP-activated protein kinase (AMPK) is a metabolic sensor that regulates cellular energy balance, transport, growth, inflammation, and survival functions. This review explores recent work in defining the effects of AMPK on various renal tubular epithelial ion transport proteins as well as its role in kidney injury and repair in normal and disease states. RECENT FINDINGS: Recently, several groups have uncovered additional functions of AMPK in the regulation of kidney and transport proteins...
June 12, 2017: Current Opinion in Nephrology and Hypertension
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/28611971/diagnosis-and-management-of-hepatobiliary-complications-in-autosomal-recessive-polycystic-kidney-disease
#10
REVIEW
Andrew Wehrman, Alyssa Kriegermeier, Jessica Wen
Autosomal recessive polycystic kidney disease (ARPKD) is a congenital hepatorenal fibrocystic disease. The hepatic manifestations of ARPKD can range from asymptomatic to portal hypertension and massively dilated biliary system that results in liver transplantation. Hepatic complications of ARPKD typically present with signs of portal hypertension (splenomegaly and thrombocytopenia) or cholangitis. Liver disease in ARPKD does not always correlate with severity of renal disease. Management of ARPKD-related liver disease is largely treating specific symptoms, such as antibiotics for cholangitis or endoscopic treatment for variceal bleeding...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28611533/functional-budd-chiari-syndrome-associated-with-severe-polycystic-liver-disease
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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/28597060/-early-bilateral-nephrectomy-in-neonatal-autosomal-recessive-polycystic-kidney-disease-improved-prognosis-or-unnecessary-effort
#17
REVIEW
S Riechardt, M Koch, J Oh, M Fisch
BACKGROUND: Neonatal autosomal recessive polycystic kidney disease (ARPKD) is associated with giant kidneys, lung hypoplasia, pulmonal hypertension, and end-stage renal failure. Depending on the study, mortality is reported to range between 20 and 80%. OBJECTIVES: Does bilateral nephrectomy improve survival? PATIENTS AND METHODS: Between 2010 and 2016, we treated 7 children with prenatally diagnosed ARPKD. All had a planned delivery by cesarean section...
June 8, 2017: Der Urologe. Ausg. A
https://www.readbyqxmd.com/read/28584456/isolation-rate-and-clinical-significance-of-uropathogens-in-positive-urine-cultures-of-hemodialysis-patients
#18
Katerina G Oikonomou, Adib Alhaddad
BACKGROUND: Hemodialysis (HD) patients are known to be vulnerable to infections. However, there are limited data on the urine microbiology spectrum among patients with end-stage renal disease and on the development of antimicrobial resistance of uropathogens in these patients. MATERIALS AND METHODS: A single-center, retrospective study was conducted to assess the spectrum and antimicrobial resistance profile of microorganisms isolated in urine cultures of HD patients who were hospitalized between September 2008 and August 2015 with an admitting diagnosis of fever, sepsis, or urinary tract infection...
April 2017: Journal of Global Infectious Diseases
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
#19
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/28578020/pathogenicity-analysis-of-novel-variations-in-chinese-han-patients-with-polycystic-kidney-disease
#20
Zishui Fang, Shiyan Xu, Yonghua Wang, Liwei Sun, Yi Feng, Yibin Guo, Hongyi Li, Weiying Jiang
OBJECTIVE: Locus and allellic heterogeneity in polycystic kidney disease (PKD) is a great challenge in precision diagnosis. We aim to establish comprehensive methods to distinguish the pathogenic mutations from the variations in PKD1, PKD2 and PKHD1 genes in a limited time and lay the foundation for precisely prenatal diagnosis, preimplantation genetic diagnosis and presymptom diagnosis of PKD. METHODS: Nested PCR combined with direct DNA sequencing were used to screen variations in PKD1, PKD2 and PKHD1 genes...
May 31, 2017: Gene
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