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Author: Richard P. Lifton
Publisher: Academic Press
ISBN: 0080924271
Category : Science
Languages : en
Pages : 895
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Book Description
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)
Author: Richard P. Lifton
Publisher: Academic Press
ISBN: 0080924271
Category : Science
Languages : en
Pages : 895
Get Book
Book Description
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)
Author: Harvest F. Gu
Publisher: Frontiers Media SA
ISBN: 2889637379
Category :
Languages : en
Pages : 119
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Book Description
Author: David B. Mount
Publisher: Elsevier Health Sciences
ISBN: 1416002529
Category : Medical
Languages : en
Pages : 604
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Book Description
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.
Author: Jong Hoon Park
Publisher: Springer
ISBN: 9811020418
Category : Medical
Languages : en
Pages : 126
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Book Description
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.
Author: Amin Y. Barakat
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 384
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Book Description
Author: Peter D. Vize
Publisher: Elsevier
ISBN: 0080521541
Category : Science
Languages : en
Pages : 534
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Book Description
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
Author: Denis F. Geary
Publisher: Springer
ISBN: 3662529726
Category : Medical
Languages : en
Pages : 2005
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Book Description
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.
Author: Adrian Spitzer
Publisher: Springer Science & Business Media
ISBN: 1461316030
Category : Medical
Languages : en
Pages : 453
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Book Description
Genetic disorders have emerged as a prominent cause of morbidity and mor tality among infants and adults. As many as 10% to 20% of hospital admis sions and at least 10% of the mortality in this age group are due to inherited diseases. There are at least two factors that have brought genetic disorders into the forefront of pediatrics. One is a great reduction in childhood mortality due to infections and nutritional deficiency states, and the other is the rapid progress made in the identification of genetic defects. Amniocentesis, chorionic villus sampling, and recombinant DNA technology have already had a tremendous impact on the practice of medicine. This is why the first two chapters of this volume are dedicated to general principles of molecular genetics and to a description of the techniques used to diagnose genetic disorders at the DNA level. The relevance of this new area of science to the study of inherited renal diseases is reflected in the large body of knowledge that has been generated regarding the association between various glomerular nephritides and genetic markers such as the HLA system, and even more impressively in the direct or indirect identification of abnormal genes or gene products in Alport's syn drome, autosomal dominant polycystic kidney disease, and Lowe's syndrome. These discoveries figure prominently in the pages of this book. Yet, the progress we have made has barely scratched the surface of the problem.
Author: Robert B. Colvin
Publisher: Elsevier Health Sciences
ISBN: 0443109230
Category : Medical
Languages : en
Pages : 1267
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Book Description
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
Author: Jinghua Hu
Publisher: CRC Press
ISBN: 0429888953
Category : Medical
Languages : en
Pages : 361
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Book Description
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
