Del 48 i serien Oxford Monographs on Medical Genetics

The Genetics of Renal Disease

Inbunden, Engelska, 2004

AvFrances Flinter,Eamon Maher,Anand Saggar-Malik

6 299 kr

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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.

Produktinformation

Utgivningsdatum2004-01-22
Mått173 x 248 x 33 mm
Vikt1 230 g
FormatInbunden
SpråkEngelska
SerieOxford Monographs on Medical Genetics
Antal sidor582
FörlagOUP OXFORD
ISBN9780192631466

Tillhör följande kategorier

1. Introduction to clinical genetics ; 2. Renal function and management of renal disease ; 3. Renal development ; 4. Kidney and lower urinary tract malformations ; 5. Urinary tract defects and chromosomal disorders ; 6. Dysmorphic syndromes with renal involvement ; 7. Primary hereditary nephropathies ; 8. Alport Syndrome ; 9. Autosomal dominant polycystic kidney disease ; 10. Autosomal recessive polycystic kidney disease ; 11. Cystic renal diseases ; 12. Primary inherited metabolic diseases of the kidney ; 13. Genetics of stone forming diseases ; 14. Disorders of tubular transport ; 15. Tuberous Sclerosis complex ; 16. Neurofibromatosis ; 17. The Bardet-Biedl and Alstrom syndromes ; 18. Genetic syndromes with a renal component ; 19. The genetics of glomerulonephritis and systemic disorders affecting the kidney ; 20. Wilms tumour and the Wilms tumour predisposition syndromes ; 21. Von Hippel-Lindau disease ; 22. Inherited predispositions to kidney cancer ; 23. Gene therapy in renal disease ; 24. Gene therapy for renal cancer

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.