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| GENETIC DISEASES OF THE KIDNEY
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Edited By
Richard Lifton, 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
Donald Seldin, Southwestern Medical School, University of Texas, Dallas, USA
Description
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
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 Palacin
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, Jurg 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
| Bibliographic details |
Hardbound, 848 pages, publication date: DEC-2008
ISBN-13: 978-0-12-449851-8
ISBN-10: 0-12-449851-5
Imprint: ACADEMIC PRESS
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