GENETICS OF RENAL DISEASE

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.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 discussionof 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, geneticlinkage 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.

Contents:

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.