Genetic Diseases Of The Kidney

118,21 € 113,66 €
Richard P Lifton
Academic Press
Fecha Publicacion
14 ene. 2009
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 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
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