"Genetic Diseases of the Kidney" provides expert insight into the role of genetic abnormalities in the pathogenesis of deranged kidney function and kidney disease. The principles of mammalian genetics are first elaborated, with special consideration given to the application of genetic analysis to clinical syndromes and diseases. Specific renal diseases are next analyzed. Monogenic disorders confined to the kidney - diseases of nephron function, renal development, and renal neoplasia - are then treated in detail in some 30 chapters. Both specific diseases - Fanconi syndrome, Bartter's Syndrome, Nephrogenic diabetes insipidus, and the like - as well as physiologic abnormalities - renal glycosuria, renal aminoaciduria, etc. - are described and their genetic causes explained. Finally systemic diseases with renal involvement, both monogenic and polygenic, are analyzed in some 20 further chapters. The genetic background of such complex clinical disorders as systemic lupus erythematosis, diabetes mellitus, HIV, and hypertension are critically examined.
Every attempt has been made to present the genetic abnormality in an appropriate physiologic context, so as to promote an understanding of the pathway of a genetic disturbance to a phenotypic expression in disease. For this reason, the genetic lesion is not simply described as a disturbance in a reductive cascade. Rather, the emergence of the disease state is analyzed as an expression of a system disturbance, where compensatory mechanisms, interactions with other pathways, and locus of the disorder combine to determine the phenotypic expression. Such an approach throughout the text provides an explanatory framework for understanding the linkage between a disease gene or genes and a clinical disturbance or disease. The book lays the essential foundation of mammalian genetics principles for medical professionals with little to no background in genetics; and 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)