Förlagets beskrivning
Renal genetic disorders may become apparent at any time in life and
recognition of specific renal disorders is important in allowing accurate
genetic counselling. Active counselling requires knowledge about the natural
history of the disorder, an understanding of the genetic component and mode of
inheritance, risk of the disorder in other family members, information about
patient attitudes towards family planning and the possibility of pre-natal
diagnosis. The Genetics of Renal Disease provides a comprehensive account of both the
hereditary nephropathies and more generalised disorders, which may affect the
renal tract. It includes comprehensive guidelines from an international group
of authors on renal function and development, chromosomal disorders, dysmorphic
syndromes, inherited predisposition to kidney cancer and gene therapy for renal
cancer. Specific chapters deal with individual renal tract disorders such as an
extensive discussion of Alport's disease, cystic renal diseases, the Bardet-Biedl and
Alstrom syndromes. Each section gives a brief description of the clinical and
pathological features of a particular disorder, followed by a review of the
genetics of the disorder including incidence, inheritance of familial
occurrence, genetic linkage and gene assignment, and prenatal diagnosis and carrier
detection. Original studies are extensively quoted and are referenced at the
end of each section. There are a great many dysmorphic syndromes that involve
the urinary tract. These are incorporated within the book. This book covers renal disorders which have a genetic basis, starting from
the perspective of clinical and medical genetics, rather than taking as its
primary focus the clinical management of these disorders by nephrologists.
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The Genetics of Renal Disease
Bokrecensioner » The Genetics of Renal Disease (Oxford Monographs on Medical Genetics)
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