Genetic Diseases of the Kidney

Genetic Diseases of the Kidney identifies and analyzes genetic abnormalities causing renal diseases in human subjects. Although in a sense the genome contains all the instructions required for the formation of a phenotype, the information is encoded in an extremely complicated fashion. In primary genetic diseases, the genetic instruction specifies a phenotype clearly linked with a discreet lesion confined to the kidney. However, the genetic disturbance may be imbedded in a complicated physiologic ensemble, so that the nexus between the genetic disturbance and the phenotype may be obscured; in consequence, the causal sequence is extremely difficult to unravel. In many instances the renal disease is one component of a complicated systemic hereditary disease, either monogenic or polygenic. Indeed, renal disease may arise as the sum of minor inputs from many different, seemingly unrelated genes, so that the genetic contributions may be difficult to identify. Confounding the problem further are environmental influences, originating either in the chromosomal environment from modifier genes, or in the extra-chromosomal environmental from intrauterine or postnatal influences. These considerations have determined both the organization of the text as well as the detailed description of the genetic disorders and the physiologic derangements that emerge.

Readership

Nephrologists, clinicians and researchers
Quotes

“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

Table of Contents

I. General Background
1. Genetic approaches to human disease
Richard P. Lifton & Lynn M. Boyden
2. Clinical applications of genetics
Lisa M. Guay-Woodford and Nine V.A.M. Knoers
II. Primary Genetic Diseases of Nephron Function
3. Logic of the kidney
Orson W. Moe, Donald W. Seldin, and Gerhard Giebisch

Primary genetic diseases of the glomerulus
4. Alport’s disease and thin basement membrane nephropathy
Karl Tryggvason and Jaakko Patrakka
5. Congenital nephrotic syndrome
Corinne Antignac and Ernie Esquivel
6. Focal Segmental glomerulosclerosis
Krishna R. Polu and Martin R. Pollack

Primary genetic diseases of the proximal renal tubules
7. Diseases of renal glucose handling
Ernest M. Wright
8. Primary Inherited Aminoacidurias: Genetic defects in the renal handling of amino acids
Manuel Palacín
9. Primary renal uricosuria/ Renal Hyperuricemia and Renal Hypouricemia
Makoto Hosoyamada, Kimiyoshi Ichida, Tatsuo Hosoya, Hitoshi Endou
10. The Fanconi syndrome
Orson W. Moe, Donald W. Seldin, and Michel Baum
11. Proximal renal tubular acidosis
Peter Aronson and Gerhard Giebisch
12. Dent’s Disease
Steven J. Scheinman

Primary genetic diseases of the thick ascending limb of Henle
13. Molecular Genetics of Gitelman’s and Bartter’s Syndromes and their implications for blood pressure variation
Richard P. Lifton and Ute I. Scholl
14. Renal Mg2+ wasting due to paracellin-1 mutation
William Asch
15. Ca2+-sensor receptor-related diseases
Steven C. Hebert and Edward M. Brown

Primary genetic diseases of the distal convoluted tubule and collecting duct
16. Liddle’s syndrome (pseudoaldosteronism)
Laurent Schild and Bernard C. Rossier
17. The syndrome of apparent mineralocorticoid excess
Perrin C. White
18. Pseudohypaldosteronism type I and hypertension exacerbated in pregnancy
David S. Geller
19. PHAII/Wnk Kinase
Richard P. Lifton
20. Distal renal tubular acidosis
Fiona E. Karet
21. Nephrogenic diabetes insipidus: vasopressin receptor defect
Daniel G. Bichet
22. Nephrogenic Diabetes Insipidus: aquaporin-2 defect
Peter M.T. Deen, Carel H. van Os, Nine V.A.M. Knoers

III. Genetic abnormalities of renal development and morphogenesis
23. Overview of renal development
Arnaud Marlier and Lloyd G. Cantley
24. Polycystic kidney disease
Stefan Somlo and Lisa M. Guay-Woodford
25 Nephronopthisis
Friedhelm Hildebrandt
26. Medullary cystic disease
Anthony J. Bleyer and Thomas C. Hart
27. Renal dysgenesis
Peter Igarashi, Fangming Lin and Vishal Patel

IV. Inherited neoplastic diseases affecting the kidney
28. The Genetic Basis of Cancer of the Kidney
Robert L. Grubb III, McClellan M. Walther, W. Marston Linehan
29. Wilm’s tumor
Sunny Hartwig and Jordan A. Kreidberg
30. Tuberous sclerosis
David J. Kwiatkowski
V. Systemic diseases with renal involvement: monogenic disorders
31. Nail-patella syndrome
Roy Morello, Daryl Scott, and Brendan Lee
32. Mitochondrial Diseases of Kidney
Ali Hariri
33. Primary Hyperoxaluria
Scott D. Cramer and Tatsuya Takayama
34. The Oculocerebrorenal Syndrome of Lowe
Steven G. Coca and Robert F. Reilly
35. Fabry’s disease
Robert J. Desnick
36. Hereditary fructose intolerance
Timothy M. Cox
37. The Branchio-Oto-Renal Syndrome
Nine V.A.M. Knoers and Cor W.J.R. Cremers
38. Overproduction type hyperuricemia
Makoto Hosoyamada, Kimiyoshi Ichida, Tatsuo Hosoya, Hitoshi Endou
39. Hereditary cystinosis
Corinne Antignac and Vasiliki Kalatzis
40. Hepatorenal tyrosinemia
Robert M. Tanguay, Anne Bergeron
41. Renal Disease in Type I Glycogen Storage Disease
Janice Y. Chou, Brian Mansfield and David A. Weinstein
42. Wilson’s disease
Michael L. Schilsky and Pramod Mistry
43. Genetic defects in Renal Phosphate Handling
Carsten A Wagner, Nati Hernando, Ian C. Forster, Jürg Biber, Heini Murer

VI. Systemic hereditary diseases with renal involvement: multifactorial diseases
44. Genetic susceptibility to kidney disease as a consequence of systemic autoimmunity
Andrew Wang, Chandra Mohan, and Edward K. Wakeland
45. IgA nephropathy
Isabel Beerman, Francesco Scolari, Ali Gharavi
46. Susceptibility to Diabetic Nephropathy
Barry Freedman, Donald Bowden and Stephen Rich
47. HIV-associated nephropathy
Christina M. Wyatt and Paul E. Klotman

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