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Author: Richard P. Lifton Publisher: Academic Press ISBN: 0080924271 Category : Science Languages : en Pages : 895
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
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: David B. Mount Publisher: Elsevier Health Sciences ISBN: 1416002529 Category : Medical Languages : en Pages : 604
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: Matthew R Lindberg Publisher: Elsevier Health Sciences ISBN: 0323400590 Category : Medical Languages : en Pages : 1140
Book Description
Part of the highly regarded Diagnostic Pathology series, this updated volume is a visually stunning, easy-to-use reference covering all aspects of common and rare renal diseases and their variants. Outstanding images—including gross and microscopic pathology, a wide range of stains, and detailed medical illustrations—make this an invaluable diagnostic aid for every practicing pathologist, resident, or fellow. Written by leading pathologists, this second edition presents an up-to-date, concise presentation of major pathological, clinical, pathophysiological, and genetic information for over 240 diagnoses. High-quality, carefully annotated images highlight critical information, including difficult issues of grading and staging and diagnostic dilemmas not covered in depth in other texts Time-saving reference features include bulleted text, a variety of test data tables, key facts in each chapter, annotated images, and an extensive index Thoroughly updated content throughout with a particular emphasis on practical information that directly assists in making and supporting a diagnosis Over 25 new chapters with information on major advances in nephropathology/nephrology that have occurred since the first edition, especially in the classification of MPGN/complement-related diseases, lupus nephritis, transplant pathology, and newly recognized immunologic and genetic diseases such as ciliopathies, tubulointerstitial nephritis, and glomerulopathies
Author: Jong Hoon Park Publisher: Springer ISBN: 9811020418 Category : Medical Languages : en Pages : 128
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: Xin J. Zhou Publisher: Cambridge University Press ISBN: 1316613984 Category : Medical Languages : en Pages : 691
Book Description
An algorithmic approach to interpreting renal pathology, updated in light of recent advances in understanding and new classification schemes.
Author: Peter D. Vize Publisher: Elsevier ISBN: 0080521541 Category : Science Languages : en Pages : 534
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: Adrian Spitzer Publisher: Springer Science & Business Media ISBN: 1461316030 Category : Medical Languages : en Pages : 453
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: Denis F. Geary Publisher: Springer ISBN: 3662529726 Category : Medical Languages : en Pages : 1968
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: Richard P. Lifton
Author: Richard P. Lifton
Author: David B. Mount
Author: Harvest F. Gu
Author: Matthew R Lindberg
Author: Jong Hoon Park
Author: Amin Y. Barakat
Author: Xin J. Zhou
Author: Peter D. Vize
Author: Adrian Spitzer
Author: Denis F. Geary