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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.
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