Genetic Diseases of the Kidney

Elsevier Science and Technology, December 2008, Pages: 848

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.

Lays the essential foundation of mammalian genetics principles for medical professionals with little to no background in genetics
Analyzes specific renal diseases - both monogenic disorders confined to the kidney as well as systemic diseases with renal involvement - and explains their genetic causes.
World-renowned editors and authors offer expert frameworks for understanding the links between genes and complex clinical disorders (i.e., lupus, diabetes, HIV, and hypertension)

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

Lifton, Richard P.
Somlo, Stefan
Giebisch, Gerhard H.
Seldin, Donald W.

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