The Kidney In Genetic Disease

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Genetic Diseases of the Kidney

Author : Richard P. Lifton
Publisher : Academic Press
ISBN 13 : 0080924271
Total Pages : 895 pages
Book Rating : 4.0/5 (89 download)

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Book Synopsis Genetic Diseases of the Kidney by : Richard P. Lifton

Download or read book Genetic Diseases of the Kidney written by Richard P. Lifton and published by Academic Press. This book was released on 2009-02-25 with total page 895 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic approaches have revolutionized our understanding of the fundamental causes of human disease by permitting the identification of specific genes in which variation causes or contributes to susceptibility to, or protection from, disease. More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine. Genetic Diseases of the Kidney offers expert insight into the role of genetic abnormalities in the pathogenesis of abnormal kidney function and kidney disease. Genetic abnormalities are carefully presented within the appropriate physiologic context so that readers will understand not only which genes are linked to which diseases but also which pathways lead from a genetic "disturbance to the systemic appearance of disease. - Lays the essential foundation of mammalian genetics principles for medical professionals with little or no background in genetics - Analyzes specific renal diseases – both monogenic disorders confined to the kidney and systemic diseases with renal involvement – and explains their genetic causes - World-renowned editors and authors offer expert frameworks for understanding the links between genes and complex clinical disorders (i.e., lupus, diabetes, HIV, and hypertension)

Cystogenesis

Author : Jong Hoon Park
Publisher : Springer
ISBN 13 : 9811020418
Total Pages : 128 pages
Book Rating : 4.8/5 (11 download)

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Book Synopsis Cystogenesis by : Jong Hoon Park

Download or read book Cystogenesis written by Jong Hoon Park and published by Springer. This book was released on 2016-10-12 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

The Kidney

Author : Peter D. Vize
Publisher : Elsevier
ISBN 13 : 0080521541
Total Pages : 534 pages
Book Rating : 4.0/5 (85 download)

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Book Synopsis The Kidney by : Peter D. Vize

Download or read book The Kidney written by Peter D. Vize and published by Elsevier. This book was released on 2003-03-14 with total page 534 pages. Available in PDF, EPUB and Kindle. Book excerpt: Organogenesis of the kidney has been intensely studied for over a century. In recent years advances in molecular techniques have not only made great inroads into exploring the genetic regulation of this complex process but also began to unravel the molecular basis of many forms of congenital kidney disease. This book is a comprehensive study on these findings and the only book available with such in depth coverage of the kidney. - Hundreds of color figures depicting key events in all aspects of kidney development - Full coverage of the genetic and cellular basis of kidney development - Analysis of the genetic basis of the major congenital kidney diseases

Molecular and Genetic Basis of Renal Disease

Author : David B. Mount
Publisher : Elsevier Health Sciences
ISBN 13 : 1416002529
Total Pages : 604 pages
Book Rating : 4.4/5 (16 download)

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Book Synopsis Molecular and Genetic Basis of Renal Disease by : David B. Mount

Download or read book Molecular and Genetic Basis of Renal Disease written by David B. Mount and published by Elsevier Health Sciences. This book was released on 2008-01-01 with total page 604 pages. Available in PDF, EPUB and Kindle. Book excerpt: This companion to Brenner and Rector's The Kidney offers a state-of-the-art summary of the most recent advances in renal genetics. Molecular and Genetic Basis for Renal Disease provides the nephrologist with a comprehensive look at modern investigative tools in nephrology research today, and reviews the molecular pathophysiology of the nephron as well as the most common genetic and acquired renal diseases. A comprehensive clinical review of Medelian renal disease is also be included. Detailed review of the molecular anatomy and pathophysiology of the nephron that provides relevant basic science to consider when diagnosing and managing patients with these disorders.

Diagnostic Pathology: Kidney Diseases E-Book

Author : Robert B. Colvin
Publisher : Elsevier Health Sciences
ISBN 13 : 0443109230
Total Pages : 1267 pages
Book Rating : 4.4/5 (431 download)

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Book Synopsis Diagnostic Pathology: Kidney Diseases E-Book by : Robert B. Colvin

Download or read book Diagnostic Pathology: Kidney Diseases E-Book written by Robert B. Colvin and published by Elsevier Health Sciences. This book was released on 2023-08-16 with total page 1267 pages. Available in PDF, EPUB and Kindle. Book excerpt: This expert volume in the Diagnostic Pathology series is an excellent point-of-care resource for practitioners at all levels of experience and training. Covering the full range of common and rare nonneoplastic renal diseases, it incorporates the most recent scientific and technical knowledge in the field to provide a comprehensive overview of all key issues relevant to today's practice. Richly illustrated and easy to use, Diagnostic Pathology: Kidney Diseases, fourth edition, is a visually stunning, one-stop resource for every practicing pathologist, nephrologist, resident, student, or fellow as an ideal day-to-day reference or as a reliable training resource. - Provides a comprehensive source for key pathologies and clinical features of more than 265 kidney diseases - Features two dozen new chapters on a variety of timely topics, including COVID-19 nephropathies, xenografts, artificial intelligence (AI), digital pathology analysis, harmonized nephropathology terminology, newly identified types of amyloidosis, common artifacts and pitfalls on kidney biopsy, vaccination-associated renal disease, crystal nephropathies, and much more - Includes updates from the International Kidney and Monoclonal Gammopathy (IKMG) research group, the American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) classification criteria for IgG4-related disease, Banff Foundation for Allograft Pathology, and others - Details updated genetic causes of nephrotic syndromes and antinephrin antibodies in podocytopathies—by the investigator who discovered it - Discusses the newly identified variant IgG nephropathy and novel membranous autoantigens - Contains chapters on techniques, including immunofluorescence on paraffin sections, C4d staining, and polyomavirus detection in tissue - Contains more than 4,300 print and online images, including high-resolution photographs and histologic images, full-color medical illustrations, radiologic images, and more - Employs consistently templated chapters, bulleted content, key facts, a variety of tables, annotated images, pertinent references, and an extensive index for quick, expert reference at the point of care - Shares the expertise of internationally recognized authors who provide fresh perspectives on multiple topics, with a particular emphasis on practical information that directly assists in making and supporting a diagnosis - Includes an eBook version that enables you to access all text, figures, and references, with the ability to search, customize your content, make notes and highlights, and have content read aloud

Polycystic Kidney Disease

Author : Jinghua Hu
Publisher : CRC Press
ISBN 13 : 0429888945
Total Pages : 360 pages
Book Rating : 4.4/5 (298 download)

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Book Synopsis Polycystic Kidney Disease by : Jinghua Hu

Download or read book Polycystic Kidney Disease written by Jinghua Hu and published by CRC Press. This book was released on 2019-10-24 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume focuses on the investigatory methods applied to autosomal dominant polycystic kidney disease (ADPKD), one of the most common human genetic diseases. ADPKD is caused by mutations in PKD1 and TRPP2, two integral membrane proteins that function as receptor/ion channels in primary cilia of tubular epithelial cells. Thus, ADPKD belongs to ciliopathies, a group of disorders 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. Key Features Explores the role of cilia in polycystic kidney disease Focuses on myriad state-of-the-art methods and techniques Reviews specific mutations integral to this autosomal genetic disease Includes discussions of model systems

Kidney Development and Disease

Author : Rachel K. Miller
Publisher : Springer
ISBN 13 : 3319514369
Total Pages : 373 pages
Book Rating : 4.3/5 (195 download)

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Book Synopsis Kidney Development and Disease by : Rachel K. Miller

Download or read book Kidney Development and Disease written by Rachel K. Miller and published by Springer. This book was released on 2017-04-13 with total page 373 pages. Available in PDF, EPUB and Kindle. Book excerpt: Kidney Development and Disease brings together established and young investigators who are leading authorities in nephrology to describe recent advances in three primary areas of research. The first section describes the use of animal models as powerful tools for the discovery of numerous molecular mechanisms regulating kidney development. The second section focuses on nephric cell renewal and differentiation, which lead to diverse cell fates within the developing kidney, and discusses diseases resulting from the aberrant regulation of the balance between cell fate decisions. The final section concentrates on morphogenesis of the developing kidney and its maintenance after formation as well as the diseases resulting from failures in these processes. Kidney form and function have been extensively studied for centuries, leading to discoveries related to their development and disease. Recent scientific advances in molecular and imaging techniques have broadened our understanding of nephron development and maintenance as well as the diseases related to these processes.

Pediatric Kidney Disease

Author : Denis F. Geary
Publisher : Springer
ISBN 13 : 3662529726
Total Pages : 1968 pages
Book Rating : 4.6/5 (625 download)

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Book Synopsis Pediatric Kidney Disease by : Denis F. Geary

Download or read book Pediatric Kidney Disease written by Denis F. Geary and published by Springer. This book was released on 2017-02-16 with total page 1968 pages. Available in PDF, EPUB and Kindle. Book excerpt: The new edition of this valuable clinical resource offers a state of the art, comprehensive review on every clinical condition encountered in pediatric nephrology. International experts present the latest knowledge on epidemiology, diagnosis, management, and prognosis in one concise, clinically focused text, in which care has been taken to couple just the right amount of "need-to-know" basic science with practical clinical guidance that will enable the reader to make efficient, informed decisions. The topics covered include: disorders of renal development, glomerular disorders, the kidney and systemic disease, renal tubular disorders, tubulointerstitial disease, urinary tract disorders, acute kidney injury, hypertension, chronic and end-stage renal disease, and renal replacement therapy. The full-color, highly visual, meticulously crafted format will ensure that the practitioner is able to source and apply information with remarkable ease.

Disease Control Priorities in Developing Countries

Author : Dean T. Jamison
Publisher : World Bank Publications
ISBN 13 : 0821361805
Total Pages : 1449 pages
Book Rating : 4.8/5 (213 download)

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Book Synopsis Disease Control Priorities in Developing Countries by : Dean T. Jamison

Download or read book Disease Control Priorities in Developing Countries written by Dean T. Jamison and published by World Bank Publications. This book was released on 2006-04-02 with total page 1449 pages. Available in PDF, EPUB and Kindle. Book excerpt: Based on careful analysis of burden of disease and the costs ofinterventions, this second edition of 'Disease Control Priorities in Developing Countries, 2nd edition' highlights achievable priorities; measures progresstoward providing efficient, equitable care; promotes cost-effectiveinterventions to targeted populations; and encourages integrated effortsto optimize health. Nearly 500 experts - scientists, epidemiologists, health economists,academicians, and public health practitioners - from around the worldcontributed to the data sources and methodologies, and identifiedchallenges and priorities, resulting in this integrated, comprehensivereference volume on the state of health in developing countries.

Silva's Diagnostic Renal Pathology

Author : Xin J. Zhou
Publisher : Cambridge University Press
ISBN 13 : 1316613984
Total Pages : 691 pages
Book Rating : 4.3/5 (166 download)

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Book Synopsis Silva's Diagnostic Renal Pathology by : Xin J. Zhou

Download or read book Silva's Diagnostic Renal Pathology written by Xin J. Zhou and published by Cambridge University Press. This book was released on 2017-03-02 with total page 691 pages. Available in PDF, EPUB and Kindle. Book excerpt: An algorithmic approach to interpreting renal pathology, updated in light of recent advances in understanding and new classification schemes.

Chronic Kidney Disease

Author : Thomas Rath
Publisher : BoD – Books on Demand
ISBN 13 : 953513843X
Total Pages : 307 pages
Book Rating : 4.5/5 (351 download)

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Book Synopsis Chronic Kidney Disease by : Thomas Rath

Download or read book Chronic Kidney Disease written by Thomas Rath and published by BoD – Books on Demand. This book was released on 2018-02-21 with total page 307 pages. Available in PDF, EPUB and Kindle. Book excerpt: Known worldwide, chronic kidney disease (CKD) is a disease that affects up to 4% of the population with increasing figures also in the developing countries. Life expectancy of patients affected by CKD is shortened compared to the overall population, and only a minority of patients reach end-stage renal disease (ESRD) with the need for dialysis or renal transplantation; death overtakes dialysis. In the 13 chapters, this book sheds light on the different aspects related to pathophysiology and clinical aspects of CKD, providing interesting insights into not only inflammation and cardiovascular risk but also the interplay of hormones and the functional aspects of endothelial function. In addition, chapters dealing with genetic aspects of polycystic kidney disease and also the clinical handling of patients with CKD and peritoneal dialysis will be beneficial for the open-minded reader.

Podocytopathy

Author : Z.-H. Liui
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3318026514
Total Pages : 274 pages
Book Rating : 4.3/5 (18 download)

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Book Synopsis Podocytopathy by : Z.-H. Liui

Download or read book Podocytopathy written by Z.-H. Liui and published by Karger Medical and Scientific Publishers. This book was released on 2014-05-16 with total page 274 pages. Available in PDF, EPUB and Kindle. Book excerpt: The podocyte is a key cell that forms the last barrier of the kidney filtration unit. One of the most exciting developments in the field of nephrology in the last decade has been the elucidation of its biology and its role in the pathophysiology of inherited and acquired glomerular disease, termed podocytopathy. In this publication, world-renowned experts summarize the most recent findings and advances in the field: they describe the unique biological features and injury mechanisms of the podocyte, novel techniques used in their study, and diagnosis and potential therapeutic approaches to glomerular diseases. Due to its broad scope, this publication is of great value not only for clinical nephrologists and researchers, but also for students, residents, fellows, and postdocs.

Oxford Textbook of Clinical Nephrology

Author : Neil N. Turner
Publisher : Oxford University Press
ISBN 13 : 0191017655
Total Pages : 3045 pages
Book Rating : 4.1/5 (91 download)

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Book Synopsis Oxford Textbook of Clinical Nephrology by : Neil N. Turner

Download or read book Oxford Textbook of Clinical Nephrology written by Neil N. Turner and published by Oxford University Press. This book was released on 2015-10-29 with total page 3045 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fourth edition of the Oxford Textbook of Clinical Nephrology builds on the success and international reputation of the publication as an important resource for the practising clinician in the field. It provides practical, scholarly, and evidence-based coverage of the full spectrum of clinical nephrology, written by a global faculty of experts. The most relevant and important reference to clinical nephrology, this is an authoritative and comprehensive textbook combining the clinical aspects of renal disease essential to daily clinical practice with extensive information about the underlying basic science and current evidence available. Each section of the textbook has been critically and comprehensively edited under the auspices of a leading expert in the field. This new edition has been significantly expanded and reapportioned to reflect developments and new approaches to topics, and includes treatment algorithms to aid and enhance patient care where possible. The fourth edition offers increased focus on the medical aspects of transplantation, HIV-associated renal disease, and infection and renal disease, alongside entirely new sections on genetic topics and clinical and physiological aspects of fluid/electrolyte and tubular disorders. The emphasis throughout is on marrying advances in scientific research with clinical management. Richly illustrated throughout in full colour, this is a truly modern and attractive edition which reinforces the Oxford Textbook of Clinical Nephrology's position as an indispensable reference work of consistent quality and reliability. Enriched and refined by careful revision, this new edition continues the tradition of excellence. This print edition of The Oxford Textbook of Clinical Nephrology comes with a year's access to the online version on Oxford Medicine Online. By activating your unique access code, you can read and annotate the full text online, follow links from the references to primary research materials, and view, enlarge and download all the figures and tables. Oxford Medicine Online is mobile optimized for access when and where you need it.

Pediatric Nephrology for Primary Care

Author : Amin J. Barakat
Publisher :
ISBN 13 :
Total Pages : 540 pages
Book Rating : 4.3/5 (555 download)

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Book Synopsis Pediatric Nephrology for Primary Care by : Amin J. Barakat

Download or read book Pediatric Nephrology for Primary Care written by Amin J. Barakat and published by . This book was released on 2009 with total page 540 pages. Available in PDF, EPUB and Kindle. Book excerpt: In the present health care environment, primary care physicians are under pressure to refer fewer patients to specialists. They are expected to perform more diagnostic studies and treat more patients who have renal disease than ever before.As part of the for Primary Care line, this new resource will help primary care physicians diagnose and treat children with uncomplicated kidney problems and advise physicians when to refer to a specialist.

The Cystic Kidney

Author : K.D. Gardner
Publisher : Springer Science & Business Media
ISBN 13 : 9400904576
Total Pages : 441 pages
Book Rating : 4.4/5 (9 download)

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Book Synopsis The Cystic Kidney by : K.D. Gardner

Download or read book The Cystic Kidney written by K.D. Gardner and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 441 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is a book about renal cysts and cystic kidneys. Its contributors have created a resource of current information in a field that once aroused only curiosity, but that now stands at the leading edge of molecular nephrology. Its authorship includes 'oldtimers', who bring the wisdom of experience, and 'newcomers', whose presence attests to the contributions made by the investigative and technological advances of the past decade. Its text is organized to carry the reader from renal cyst to cystic renal disease. Each of its chapters defines or explores a challenge or an advance. Cells that line renal cysts are diverse in structure, type, and perhaps function. The cysts themselves lie within an interstitium that is not normal and may influence cyst development and growth. Experimental analogs of human disease offer increasing opportunities to basic researchers to examine, in sequence and under controlled circumstances, those events that favor nephron dilation, cyst growth and ultimate renal failure.

Living Kidney Donation

Author : Krista L. Lentine
Publisher : Springer Nature
ISBN 13 : 3030536181
Total Pages : 390 pages
Book Rating : 4.0/5 (35 download)

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Book Synopsis Living Kidney Donation by : Krista L. Lentine

Download or read book Living Kidney Donation written by Krista L. Lentine and published by Springer Nature. This book was released on 2021-03-05 with total page 390 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a complete guide to the evaluation, care, and follow-up of living kidney donors. Living donor kidney transplantation is established as the best treatment option for kidney failure. However, despite the tremendous benefits of living donation to recipients and society, the outcomes and optimal care of donors themselves have received relatively less attention. Fortunately, things are changing – including recent landmark developments in living donor risk assessment, policy and guidance. This volume offers authoritative, evidence-based guidance on the full range of clinical scenarios encountered in the evaluation and care of living kidney donors. The approach to key elements of risk assessment, ethical considerations and informed consent is accompanied by recommendations for patient-centered care before, during, and after donation. Advocacy initiatives and policies to remove disincentives to donation and advance a defensible system of practice are also discussed. General and transplant nephrologists, as well as related allied health professionals, can look to this book as a comprehensive resource addressing contemporary clinical topics in the practice of living kidney donation.

Phosphate Metabolism

Author : Shaul Massry
Publisher : Springer Science & Business Media
ISBN 13 : 1461342171
Total Pages : 611 pages
Book Rating : 4.4/5 (613 download)

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Book Synopsis Phosphate Metabolism by : Shaul Massry

Download or read book Phosphate Metabolism written by Shaul Massry and published by Springer Science & Business Media. This book was released on 2013-11-21 with total page 611 pages. Available in PDF, EPUB and Kindle. Book excerpt: We present to our readers the proceedings of the Second International Workshop on Phosphate. A short account of the history of the effort led to the Phosphate Workshops is appro priate and can be of interest to the reader. The idea for Phosphate Workshops was born in the early days of November, 1974. One of us (S. G. M. ) suggested the thought to a group of scientists gathered for a luncheon in one of the attrac tive small restaurants in Weisbaden, Germany. The purpose of the workshop was to bring together interested scientists to discuss the newer developments and the recent advances in the field of phosphate metabolism and the other related minerals. An Organizing Committee made of Shaul G. Massry (USA), Louis V. Avioli (USA), Philippe Bordier (France), Herbert Fleisch (Switzerland), and Eduardo Slatopolsky (USA) was formed. The First Workshop was held in Paris during June 5-6, 1975 and was hosted by Dr. Philippe Bordier. Its proceeding was already published. The Second Workshop took place in Heidelberg during June 28-30, 1976 and was hosted by Dr. Eberhard Ritz. Both of these workshops were extremely successful scientific endeavors, and the need for them was demonstrated by the great interest they generated among the scientific community. The Or ganizing Committee, therefore, decided to continue with the tradi tion to hold additional Workshops annually or every other year.