Genetic Diseases of the Kidney 1st Edition by Richard P. Lifton, Stefan Somlo, Gerhard H. Giebisch, Donald W. Seldin – Ebook PDF Instant Download/Delivery. 0080924271, 9780080924274
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Product details:
ISBN 10: 0080924271
ISBN 13: 9780080924274
Author: Richard P. Lifton, Stefan Somlo, Gerhard H. Giebisch, Donald W. Seldin
Genetic Diseases of the Kidney 1st Edition: 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.
- Lays the essential foundation of mammalian genetics principles for medical professionals with little or no background in genetics
- Analyzes specific renal diseases – both monogenic disorders confined to the kidney and 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)
Genetic Diseases of the Kidney 1st Edition Table of contents:
Part I: General Background
- Genetic Approaches to Human Disease
- Clinical Applications of Genetics
Part II
- Primary Genetic Diseases of Nephron Function
- Primary Genetic Diseases of the Glomerulus
- Primary Genetic Diseases of the Proximal Renal Tubules
- Primary Genetic Diseases of the Thick Ascending Limb of Henle
- Primary Genetic Diseases of the Distal Convoluted Tubule and Collecting Duct
Part III: Genetic Abnormalities of Renal Development and Morphogenesis
- An Overview of Renal Development
- Polycystic Kidney Disease
- Nephronophthisis
- Medullary Cystic Disease
- Renal Dysgenesis
Part IV: Inherited Neoplastic Diseases Affecting the Kidney
- The Genetic Basis of Cancer of the Kidney
- Wilms’ Tumor
- Tuberous Sclerosis
Part V: Systemic Diseases with Renal Involvement: Monogenic Disorders
- Nail-Patella Syndrome
- Mitochondrial Diseases of the Kidney
- Primary Hyperoxaluria
- The Oculocerebrorenal Syndrome of Lowe
- Fabry Disease (α-Galactosidase A Deficiency): An X-linked Nephropathy
- Hereditary Fructose Intolerance
- The Branchio-oto-renal Syndrome
- Primary Metabolic and Renal Hyperuricemia
- Hereditary Cystinosis
- Hepatorenal Tyrosinemia
- Renal Disease in Type I Glycogen Storage Disease
- Wilson Disease and the Kidney
- Genetic Defects in Renal Phosphate Handling
Part VI: Systemic Hereditary Diseases with Renal Involvement: Multifactorial Diseases
- Genetic Susceptibility to Kidney Disease as a Consequence of Systemic Autoimmunity
- IgA Nephropathy
- Susceptibility to Diabetic Nephropathy
- HIV-associated Nephropathy
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