Genetic Diseases of the Kidney (ePub)

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