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Genetics of Renal Disease

Author: E. R. Maher
Published: September 2003
Publisher: Oxford University Press
ISBN: 0192631462
Hardcover Book
Number of Pages: 584
 
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Genetics of Renal Disease


Genetic renal disorders may become apparent at any time in life and diagnosing them correctly is essential. Accurate genetic counselling requires knowledge about the natural history of the disorder, an understanding of the genetic component and mode of inheritance, the 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 contributions 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 syndrome, cystic renal diseases, and 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 its incidence, the pattern of inheritance, genetic linkage and gene assignment, and carrier detection and prenatal diagnosis. Original studies are extensively quoted and are referenced at the end of each section. sAimed primarily at clinical geneticists, this book will also appeal to researchers in genetic kidney disease and genetic counsellors as well as nephrologists with an interest in this area.


Table of Contents:


List of contributors
1 Introduction to clinical genetics 1
2 Renal function and management of renal disease 27
3 Renal development 57
4 Kidney and lower urinary tract malformations 89
5 Urinary tract defects and chromosomal disorders 117
6 Dysmorphic syndromes with renal involvement 147
7 Primary hereditary nephropathies 167
8 Alport syndrome 183
9 Autosomal dominant polycystic kidney disease 203
10 Autosomal recessive polycystic kidney disease 239
11 Cystic renal diseases 253
12 Primary inherited metabolic diseases of the kidney 261
13 Genetics of stone forming diseases 281
14 Disorders of tubular transport 307
15 Tuberous sclerosis complex 337
16 Neurofibromatosis 349
17 The Bardet-Biedl and Alstrom syndromes 361
18 Genetic syndromes with a renal component 399
19 The genetics of glomerulonephritis and systemic disorders affecting the kidney 417
20 Wilms tumour and the Wilms tumour predisposition syndromes 455
21 Von Hippel-Lindau disease 487
22 Inherited predispositions to kidney cancer
23 Gene therapy in renal disease 511
24 Gene therapy for renal cancer 515
Index 557


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Genetics of Renal Disease





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