The Genetics of Renal Disease
Series: Oxford Monographs on Medical Genetics; 48;
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Product details:
- Publisher OUP Oxford
- Date of Publication 22 January 2004
- Number of Volumes Cover-to-boards
- ISBN 9780192631466
- Binding Hardback
- No. of pages582 pages
- Size 248x173x33 mm
- Weight 1230 g
- Language English
- Illustrations 8pp colour plates; numerous black and white photographs and line drawings 0
Categories
Short description:
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. It is a practical manual which clinicians seeing patients with inherited renal diseases will find themselves referring to often.
MoreLong description:
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 is very nice to read. It offers a clear and adequately illustrated overview of the many achievements in nephrogenetic research and their major impact in advancing our understanding of the aetiology and pathogenesis of a wide variety of renal disorders . . . this book is highly recommended for clinicians, who take care of patients with these diseases, such as paediatricians, (paediatric) nephrologists, urologists, internal physicians, and clinical geneticists, and for residents in training for these specialties.
Table of Contents:
Introduction to clinical genetics
Renal function and management of renal disease
Renal development
Kidney and lower urinary tract malformations
Urinary tract defects and chromosomal disorders
Dysmorphic syndromes with renal involvement
Primary hereditary nephropathies
Alport Syndrome
Autosomal dominant polycystic kidney disease
Autosomal recessive polycystic kidney disease
Cystic renal diseases
Primary inherited metabolic diseases of the kidney
Genetics of stone forming diseases
Disorders of tubular transport
Tuberous Sclerosis complex
Neurofibromatosis
The Bardet-Biedl and Alström syndromes
Genetic syndromes with a renal component
The genetics of glomerulonephritis and systemic disorders affecting the kidney
Wilms tumour and the Wilms tumour predisposition syndromes
Von Hippel-Lindau disease
Inherited predispositions to kidney cancer
Gene therapy in renal disease
Gene therapy for renal cancer
