Edited by
Richard Lifton, Yale University School of Medicine, New Haven, CT, USA
Stefan Somlo, Yale University School of Medicine, New Haven, CT, USA
Gerhard Giebisch, Yale University School of Medicine, New Haven, CT, USA
Donald Seldin, Southwestern Medical School, University of Texas, Dallas, USA
Description
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.
Audience:
Nephrologists, clinicians and researchers
