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Genetic Diseases of the Kidney

Edited by
  • Richard Lifton, Yale University School of Medicine, New Haven, CT, USA
  • Richard Lifton, Yale University School of Medicine, New Haven, CT, USA
  • Stefan Somlo, Yale University School of Medicine, New Haven, CT, USA
  • Stefan Somlo, Yale University School of Medicine, New Haven, CT, USA
  • Gerhard Giebisch, Yale University School of Medicine, New Haven, CT, USA
  • Gerhard Giebisch, Yale University School of Medicine, New Haven, CT, USA
  • Donald Seldin, Southwestern Medical School, University of Texas, Dallas, USA
  • Donald Seldin, Southwestern Medical School, University of Texas, Dallas, USA

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.

Audience
Nephrologists, clinicians and researchers

Hardbound, 848 Pages

Published: December 2008

Imprint: Academic Press

ISBN: 978-0-12-449851-8

Reviews

  • "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


Contents

  • I. General Background1. Genetic approaches to human diseaseRichard 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 Function3. Logic of the kidneyOrson 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 syndromeCorinne 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 handlingErnest M. Wright8. Primary Inherited Aminoacidurias: Genetic defects in the renal handling of amino acidsManuel Palacín9. Primary renal uricosuria/ Renal Hyperuricemia and Renal Hypouricemia Makoto Hosoyamada, Kimiyoshi Ichida, Tatsuo Hosoya, Hitoshi Endou10. The Fanconi syndromeOrson W. Moe, Donald W. Seldin, and Michel Baum 11. Proximal renal tubular acidosis Peter Aronson and Gerhard Giebisch 12. Dent’s DiseaseSteven 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 variationRichard P. Lifton and Ute I. Scholl 14. Renal Mg2+ wasting due to paracellin-1 mutationWilliam Asch 15. Ca2+-sensor receptor-related diseasesSteven C. Hebert and Edward M. Brown Primary genetic diseases of the distal convoluted tubule and collecting duct16. Liddle’s syndrome (pseudoaldosteronism)Laurent Schild and Bernard C. Rossier 17. The syndrome of apparent mineralocorticoid excessPerrin C. White 18. Pseudohypaldosteronism type I and hypertension exacerbated in pregnancy David S. Geller19. PHAII/Wnk KinaseRichard P. Lifton 20. Distal renal tubular acidosisFiona E. Karet 21. Nephrogenic diabetes insipidus: vasopressin receptor defectDaniel G. Bichet 22. Nephrogenic Diabetes Insipidus: aquaporin-2 defectPeter M.T. Deen, Carel H. van Os, Nine V.A.M. Knoers III. Genetic abnormalities of renal development and morphogenesis23. Overview of renal developmentArnaud Marlier and Lloyd G. Cantley24. Polycystic kidney disease Stefan Somlo and Lisa M. Guay-Woodford 25 Nephronopthisis Friedhelm Hildebrandt 26. Medullary cystic diseaseAnthony J. Bleyer and Thomas C. Hart 27. Renal dysgenesisPeter Igarashi, Fangming Lin and Vishal Patel IV. Inherited neoplastic diseases affecting the kidney28. The Genetic Basis of Cancer of the KidneyRobert L. Grubb III, McClellan M. Walther, W. Marston Linehan 29. Wilm’s tumorSunny Hartwig and Jordan A. Kreidberg 30. Tuberous sclerosisDavid J. Kwiatkowski V. Systemic diseases with renal involvement: monogenic disorders31. Nail-patella syndrome Roy Morello, Daryl Scott, and Brendan Lee 32. Mitochondrial Diseases of KidneyAli Hariri 33. Primary Hyperoxaluria Scott D. Cramer and Tatsuya Takayama 34. The Oculocerebrorenal Syndrome of LoweSteven G. Coca and Robert F. Reilly35. Fabry’s disease Robert J. Desnick 36. Hereditary fructose intoleranceTimothy M. Cox 37. The Branchio-Oto-Renal Syndrome Nine V.A.M. Knoers and Cor W.J.R. Cremers38. Overproduction type hyperuricemia Makoto Hosoyamada, Kimiyoshi Ichida, Tatsuo Hosoya, Hitoshi Endou39. Hereditary cystinosisCorinne Antignac and Vasiliki Kalatzis 40. Hepatorenal tyrosinemia Robert M. Tanguay, Anne Bergeron 41. Renal Disease in Type I Glycogen Storage DiseaseJanice Y. Chou, Brian Mansfield and David A. Weinstein 42. Wilson’s disease Michael L. Schilsky and Pramod Mistry 43. Genetic defects in Renal Phosphate HandlingCarsten A Wagner, Nati Hernando, Ian C. Forster, Jürg Biber, Heini Murer VI. Systemic hereditary diseases with renal involvement: multifactorial diseases44. Genetic susceptibility to kidney disease as a consequence of systemic autoimmunity Andrew Wang, Chandra Mohan, and Edward K. Wakeland 45. IgA nephropathyIsabel 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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