Genetic approaches have revolutionized our understanding of the fundamental causes of human disease by permitting the identification of specific genes in which variation causes or contributes to susceptibility to, or protection from, disease. More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine. Genetic Diseases of the Kidney offers expert insight into the role of genetic abnormalities in the pathogenesis of abnormal kidney function and kidney disease. Genetic abnormalities are carefully presented within the appropriate physiologic context so that readers will understand not only which genes are linked to which diseases but also which pathways lead from a genetic "disturbance to the systemic appearance of disease.
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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.
Authors
Richard P. Lifton Yale University School of Medicine, New Haven, CT, USA.
Stefan Somlo Yale University School of Medicine, New Haven, CT, USA.
Gerhard H. Giebisch Yale University School of Medicine, New Haven, CT, USA.
Donald W. Seldin Southwestern Medical School, University of Texas, Dallas, USA.
