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Genetic Diseases of the Kidney

Genetic Diseases of the Kidney

Richard P. Lifton | Stefan Somlo | Gerhard H. Giebisch | Donald W. Seldin



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)
“A fine book like this for nephrology is long overdue. The kidney, historically rich in its contribution to modern genetics, needs an authoritative landmark for new learning, understanding, and reference. Genetic Diseases of the Kidney is comprehensive, containing 47 well-written chapters that are edited beautifully. Clinicians, trainees, and scientists will easily marvel at seeming complexity made truly understandable. Written with clarity and acumen by leading authorities, it strikes the right balance between overview and detail. References to each chapter have been carefully selected to reflect a wealthy resource for further reading.”
—Eric G. Neilson, MD, Hugh Jackson Morgan Professor of Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA
“…The field of kidney diseases has been lucky to have Richard Lifton, one of the major figures in this revolution, devote his energies to syndromes causing kidney failure and hypertension. His discoveries have energized the field, bringing into it many exciting young investigators… The new textbook Genetics Diseases of the Kidney, edited by Lifton, Somlo Giebisch and Seldin, combines the expertise of genetics and physiology in an admirable manner. The chapters cover many practical and theoretical areas: from basic principles of genetic inheritance to detailed analysis of the many newly described syndromes of genetic renal disease. For the general nephrologist or internist there is also a helpful chapter on what is available today in genetic diagnosis – this should aid the clinician in testing and making the appropriate diagnosis. The explosion of recent genetic information had made the general textbooks of genetic medicine quite unwieldy but the publication of this textbook is a welcome addition and fills a real need. The identification of the function of such medically important genes makes this book essential not only for nephrologists but for all scientists interested in the structure and function of the kidney.”
-- Qais Al-Awqati, MB, ChB, Professor of Medicine & Physiology, Columbia University, College of Physicians & Surgeons, New York, USA
“This multi-authored textbook, covering almost all of the inherited disorders of the kidney, is written by specialists running in the front row of this fast moving research field. I was quite impressed with the enormous amount of literature covered in each and every chapter of the book, reflecting the fast progress in this area of medicine. In this time of information overflow it is particularly helpful for busy clinicians to read accessible reviews that summarize the mountain of articles now available on every subject, and provide the necessary links needed to understand the bigger picture. This book is a must have for all of those involved in the fundamental as well as the clinical research on kidney disease as well as doctors caring for patients.”
-- Prof.Dr. Martijn.H. Breuning, Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
"Over 10% of cases in the adult nephrology clinic and a much greater proportion in the paediatric nephrology clinic have a primary genetic or developmental kidney disorder. Therefore a comprehensive reference book addressing ‘genetic diseases of the kidney’ will be essential reading for all nephrologists, clinical geneticists and other healthcare professionals involved in the care of patients with this type of disease. The rapid pace of new developments in renal genetics and the identification of genes responsible for many common and rare diseases make this volume very timely. It assembles an enormous body of clinical and scientific literature in to one volume in a format that will be accessible to a diverse range of readers. It is however a reference book and not a ‘bedside pocket reference’ which means that it is able to include a vast wealth of information. The book uses a classification of genetic renal disease disease based broadly on the nephron segment primarily involved before addressing disorders of development and morphogenesis, neoplasia, systemic and multifactoral diseases. This is a logical approach which makes the book easy to navigate.
The chapter on polycystic kidney disease illustrates the principle of integrating clinical, molecular, functional, translational and therapeutic information to provide a comprehensive and detailed review of a disease. In addition to bringing the reader up-to-date on a particular field it also provides valuable evidence-based information on the clinical management of individuals and their families.
The specific genetic issues that are an essential part of managing any genetic disease are detailed in section 1. This covers genetic testing, counselling and consent and ethical issues. This is also set against a chapter describing basic genetic principles which will be a valuable reference for other sections of the book. This book therefore fills a very large gap in the current market."
--Richard Sandford PhD, FRCP, University Reader in Renal Genetics, Honorary Consultant in Medical Genetics, University of Cambridge,
Department of Medical Genetics, Cambridge Institute of Medical Research, Addenbrooke's Hospital,Cambridge, United Kingdom