Genetic diseases of the kidney /

Genetic diseases of the kidney /

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Bibliographic Details
Imprint:Amsterdam ; London : Academic Press, 2009.
Description:xiv, 829 p. : ill. (some col.) ; 29 cm.
Language:English
Subject:
Kidneys -- Diseases -- Genetic aspects.
Kidney Diseases -- genetics.
Kidney Diseases -- physiopathology.
Kidneys -- Diseases -- Genetic aspects.
Format: E-Resource Print Book
URL for this record:http://pi.lib.uchicago.edu/1001/cat/bib/7632567
Hidden Bibliographic Details
Other authors / contributors:Lifton, Richard P.
ISBN:9780124498518 (hbk.)
0124498515 (hbk.)
Notes:Includes bibliographical references and index.
Summary: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).
Table of Contents:
  • I. General Background
  • Principles of Mammalian Genetics
  • Approaches to Identification of Disease Genes
  • Clinical Applications of Genetics
  • II. Primary Genetic Diseases of Nephron Function
  • Logic of the Kidney
  • Primary Genetic Diseases of the Glomerulus: Alport's and Thin Basement Membrane Disease
  • Congenital Nephrotic Syndrome
  • Focal Segmental Glomerulosclerosis
  • Primary Genetic Diseases of the Proximal Renal Tubules
  • Diseases of Renal Glucose Handling
  • Diseases of Renal Amino Acid Handling
  • Primary Renal Uricosuria
  • Fanconi Syndrome
  • Proximal Renal Tubular Acidosis
  • Dent's Disease
  • Primary Genetic Diseases of the Thick Ascending Limb of Henle: Salt and Potassium Handling (Bartter's Syndrome)
  • Renal Mg2+ Wasting Due to Paracellin-1 Mutation
  • Ca2+-Sensor Receptor-related Diseases
  • Primary Genetic Diseases of the Distal Convoluted Tubule and Collecting Duct: Gitelman's Syndrome
  • Syndrome of Hypertension Plus Hyperkalemia
  • Liddle's Syndrome
  • The Syndrome of Apparent Mineralocorticoid Excess
  • Pseudohypaldosteronism Type I and Hypertension Exacerbated in Pregnancy
  • Distal Renal Tubular Acidosis
  • Nephrogenic Diabetes Insipidus: Vasopressin Receptor Defect
  • Nephrogenic Diabetes Insipidus: Aquaporin-2 Defect
  • III. Genetic Abnormalities of Renal Development and Morphogenesis
  • Overview of Renal Development
  • Polycystic Kidney Disease
  • Juvenile Nephronopthisis
  • Medullary Cystic Disease
  • Renal Dysgenesis
  • IV. Inherited Neoplastic Diseases Affecting the Kidney
  • The Genetic Basis of Cancer of the Kidney
  • Wilm's Tumor
  • Tuberous Sclerosis
  • V. Systemic Diseases with Renal Involvement
  • Monogenic Disorders
  • Nail-Patella Syndrome
  • The Systemic Anti-Inflammatory Diseases
  • Renal Defects Due to Mitochondrial Mutations
  • Primary Hyperoxaluria
  • Lowe's Syndrome
  • Fabry's Disease
  • Hereditary Fructose Intolerance
  • The Branchio-Oto-Renal Syndrome
  • Primary Metabolic and Renal Gout
  • Hereditary Cystinosis
  • Hepatorenal Tyrosinemia
  • Renal Disease in Type I Glycogen Storage Disease
  • Wilson's Disease
  • Renal Hypophosphatemia Due to Intrinsic Renal Defects
  • VI. Systemic Hereditary Diseases with Renal Involvement: Multifactorial Diseases
  • Systemic Lupus Erythematosis
  • IGA Nephropathy
  • Type I and II Diabetes Mellitus
  • Susceptibility to Diabetic Nephropathy
  • HIV-Associated Nephropathy
  • Hypertension
Purchased from the William T. Belfield Fund for the John Crerar Library bookplate
The John Crerar Library bookplate

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