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The Genetics of Renal Disease
     

The Genetics of Renal Disease

by Frances Flinter, Anand Saggar-Malik, Eamon Maher
 

ISBN-10: 0192631462

ISBN-13: 9780192631466

Pub. Date: 09/15/2003

Publisher: Oxford University Press, USA

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,

Overview

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 covers these issues in detail.

The book 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, choromosomal 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 which involve the urinary tract. These are incorporated within the book.

Aimed primarily at clinical and medical geneticists, this book will also appeal to researchers into genetic kidney disease and genetic counsellors as well as nephrologists with an interest in this area.

Product Details

ISBN-13:
9780192631466
Publisher:
Oxford University Press, USA
Publication date:
09/15/2003
Series:
Oxford Monographs on Medical Genetics Series , #48
Pages:
584
Product dimensions:
9.60(w) x 6.70(h) x 1.40(d)

Related Subjects

Table of Contents

1. Introduction to clinical genetics, Shehla Mohammed
2. Renal function and management of renal disease, A David Makanjuola & John E Scoble
3. Renal development, Paul JD Winyard
4. Kidney and lower urinary tract malformations, Adrian S Woolf
5. Urinary tract defects and chromosomal disorders, David J Amor, Lachlan de Crespigny & RJ McKinlay Gardner
6. Dysmophic syndromes with renal involvement, Ian D Young
7. Primary hereditary nephropaties, Karl Tryggvason
8. Alport's Syndrome, Frances Flinter
9. Autosomal dominant polycystic kidney disease, Anand Saggar-Malik & Stefan Somlo
10. Autosomal recessive polycystic kidney disease, Lisa M Guay-Woodford
11. Cystic renal diseases, Anand Saggar-Malik
12. Primary inherited metabolic diseases of the kidney, Margaret Town & William van't Hoff
13. Genetics of stone forming diseases, Pasquale Strazzullo & Pietro Vuotto
14. Disorders of tubular support, David Geller, Mark AJ Devonald & Fiona E Karet
15. Tuberous Sclerosis complex, RF Mueller & AP Weber
16. Neurofibromatosis, Susan M Huson & Natalie Canham
17. The Bardet-Biedl and Alstrom syndromes, Phil Beales, Patrick Parfrey & Nicholas Katsanis
18. Genetic syndromes with a renal component, Richard Sandford & Robin G Woolfson
19. The genetics of glomerulonephritis and systemic disorders affecting the kidney, Stephen H Powis
20. Wilms tumour and the wilms tumour predisposition syndromes, Richard Grundy
21. Von Hippel Lindau disease, Eamonn R Maher
22. Inherited predispositions to kidney cancer, Berton Zbar et al
23. Gene therapy for renal cancer, Michael J Gough & Richard G Vile

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