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:
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).
Description
Summary: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.
Physical Description:xiv, 829 p. : ill. (some col.) ; 29 cm.
Bibliography:Includes bibliographical references and index.
ISBN:9780124498518
0124498515