Molecular Mechanism of Functions of Polycystic Kidney Disease (PKD) Proteins
Title | Molecular Mechanism of Functions of Polycystic Kidney Disease (PKD) Proteins PDF eBook |
Author | Parul Kashyap |
Publisher | |
Pages | 216 |
Release | 2018 |
Genre | |
ISBN |
Cystogenesis
Title | Cystogenesis PDF eBook |
Author | Jong Hoon Park |
Publisher | Springer |
Pages | 128 |
Release | 2016-10-12 |
Genre | Medical |
ISBN | 9811020418 |
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a highly prevalent hereditary renal disorder in which fluid-filled cysts are appeared in both kidneys. Main causative genes of ADPKD are PKD1 and PKD2, encoding for polycystin-1 (PC1) and polycystin-2 (PC2) respectively. Those proteins are localized on primary cilia and function as mechanosensor in response to the fluid flow, translating mechanistic stimuli into calcium signaling. With mutations either of PKD1 or PKD2, hyper-activated renal tubular epithelial cell proliferation is observed, followed by disrupted calcium homeostasis and aberrant intracellular cyclic AMP (cAMP) accumulation. Increased cell proliferation with fluid secretion leads to the development of thousands of epithelial-lined, fluid-filled cysts in kidneys. It is also accompanied by interstitial inflammation, fibrosis, and finally reaching end-stage renal disease (ESRD). In human ADPKD, the age at which renal failure typically occurs is later in life, however no specific targeted medications are available to cure ADPKD. Recently, potential therapeutic targets or surrogate diagnostic biomarkers for ADPKD are proposed with the advances in the understanding of ADPKD pathogenesis, and some of them were attempted for clinical trials. Herein, we will summarize genetic and epi-genetic molecular mechanisms in ADPKD progression, and overview the currently available biomarkers or potential therapeutic reagents suggested.
Molecular mechanisms underlying polycystic kidney disease: From the smallest bricks to the big scenario
Title | Molecular mechanisms underlying polycystic kidney disease: From the smallest bricks to the big scenario PDF eBook |
Author | Annarita Di Mise |
Publisher | Frontiers Media SA |
Pages | 170 |
Release | 2024-05-29 |
Genre | Science |
ISBN | 2832549802 |
Polycystic Kidney Disease
Title | Polycystic Kidney Disease PDF eBook |
Author | Jinghua Hu |
Publisher | CRC Press |
Pages | 346 |
Release | 2019 |
Genre | Polycystic kidney disease |
ISBN | 9781138603899 |
"This volume focuses on methods applied to autosomal dominant polycystic kidney disease (ADPKD), a common human genetic disease. ADPKD is caused by abnormal cilia formation or function. This proposed book will cover the state-of-the-art methods ranging from molecular biology, biochemistry, electrophysiology, to tools in model animal studies"--
Polycystic Kidney Disease
Title | Polycystic Kidney Disease PDF eBook |
Author | Christian Riella |
Publisher | Biota Publishing |
Pages | 57 |
Release | 2017-01-24 |
Genre | Medical |
ISBN | 1615047476 |
This book reviews important aspects of polycystic kidney diseases, the latest scientific understanding of the diseases and syndromes, along with the therapies being developed. Cystic kidney diseases comprise a spectrum of genetic syndromes defined by renal cyst formation and expansion with variable extrarenal manifestations. The most prevalent disorder is the autosomal dominant polycystic kidney disease (ADPKD). It is the most common monogenetic disorder in humans and accounts for 4.4% of end-stage renal disease (ESRD) cases in the U.S. Patients inevitably progress to ESRD and require renal replacement therapy in the form of dialysis or transplantation. Through advancements in genomics and proteomics approaches, novel genes responsible for cystic diseases have been identified, further expanding our understanding of basic mechanisms of disease pathogenesis. The hallmark among all cystic genetic syndromes is the formation and growth of fluid-filled cysts, which originate from tubular epithelia of nephron segments. Cysts are the disease, and treatment strategies are being developed to target prevention or delay of cyst formation and expansion at an early stage, however no such therapy is currently approved.
Polycystic Kidney Disease
Title | Polycystic Kidney Disease PDF eBook |
Author | Benjamin D. Cowley, Jr. |
Publisher | Springer |
Pages | 274 |
Release | 2018-05-24 |
Genre | Medical |
ISBN | 1493977849 |
This comprehensive guide to polycystic kidney disease captures the growing knowledge of this common, potentially-fatal and hereditary disease. The first two sections of the book provide an overview of PKD gene structures, mutations and pathophysiologic mechanisms. This is followed by chapters focused on PKD’s clinical features, including renal and extrarenal manifestations, and appropriate management of patients. The final section covers current clinical trials and emerging therapies in PKD. Authored by experts in the field, this book provides the clinician and researcher with critical information on basic and translational science and clinical approaches in one concise resource.
Autosomal Dominant Polycystic Kidney Disease
Title | Autosomal Dominant Polycystic Kidney Disease PDF eBook |
Author | A. Sessa |
Publisher | S. Karger AG (Switzerland) |
Pages | 212 |
Release | 1995 |
Genre | Medical |
ISBN |
This volume contains over 40 informative contributions from leading specialists in the field focusing on the following inheritable diseases: - Polycystic kidney disease - Tuberous sclerosis complex - Von Hippel-Lindau disease - Alport syndrome - Primary hyperoxaluria - Cystinuria - Anderson-Fabry disease Recent scientific advances have changed our knowledge regarding several hereditary kidney diseases and the application of this knowledge will open a new era of molecular medicine in which the risk of disease can be accurately assessed by DNA-based diagnostic procedures. The appropriate use of preemptive medical care will benefit all patients and lower the social costs of certain diseases but ethical guidelines need to be clearly established. The goal of this volume is to bring together the latest findings of clinical nephrologists, geneticists and molecular biologists in order to further the clinical application of genetic diagnostic techniques for some of the most common inherited nephropathies. Throwing new light on a range of important topics and issues, the book is very valuable for all those interested in the field.