The Genetics of Renal Disease

Hardcover | February 2, 2004

EditorFrances Flinter, Eamon Maher, Anand Saggar-Malik

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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 andmode 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, chromosomaldisorders, 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. Eachsection 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.

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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 andmode of inheritance, risk of the disorder in ot...

Frances Flinter, Director, Clinical Genetics Unit, Guy's Hospital, London, UK Eamon Maher, Professor of Clinical Genetics, Clinical Genetics Unit, Birmingham Maternity Hospital, Queen Elizabeth Medical Centre, Birmingham, UK Anand Saggar-Malik, Clinical Geneticist, St George's Hospital Medical School, London, UK
Format:HardcoverDimensions:544 pages, 9.45 × 6.73 × 1.3 inPublished:February 2, 2004Publisher:Oxford University PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:0192631462

ISBN - 13:9780192631466

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Table of Contents

1. Shehla Mohammed: Introduction to clinical genetics2. A David Makanjuola and John E Scoble: Renal function and management of renal disease3. Paul J D Winyard: Renal development4. Adrian S Woolf: Kidney and lower urinary tract malformations5. David J Amor, Lachlan de Crespigny and R J McKinlay Gardner: Urinary tract defects and chromosomal disorders6. Ian D Young: Dysmorphic syndromes with renal involvement7. Karl Tryggvason: Primary hereditary nephropathies8. Frances Flinter: Alport Syndrome9. Anand K Saggar-Malik and Stefan Somlo: Autosomal dominant polycystic kidney disease10. Lisa M Guay-Woodford: Autosomal recessive polycystic kidney disease11. Anand K Saggar-Malik: Cystic renal diseases12. Margaret Town and William van't Hoff: Primary inherited metabolic diseases of the kidney13. Pasquale Strazzullo and Pietro Vuotto: Genetics of stone forming diseases14. David Geller, Mark A J Devonald and Fiona E Karet: Disorders of tubular transport15. Astrid P Weber and Robert F Mueller: Tuberous Sclerosis complex16. Susan M Huson and Natalie Canham: Neurofibromatosis17. Phil L Beales, Patrick S Parfrey and Nicholas Katsanis: The Bardet-Biedl and Alstrom syndromes18. Richard Sandford and Robin G Woolfson: Genetic syndromes with a renal component19. Stephen H Powis: The genetics of glomerulonephritis and systemic disorders affecting the kidney20. Richard Grundy: Wilms tumour and the Wilms tumour predisposition syndromes21. Eamonn R Maher: Von Hippel-Lindau disease22. Berton Zbar, Gladys Glenn, Maria Turner, Gregor Weirich, Peter Choyke, Stephen Hewitt, Michael Nickerson, Naboru Nakaigawa, W Marston Linehan and Laura Schmidt: Inherited predispositions to kidney cancer23. Amand K Saggar-Malik: Gene therapy in renal disease24. Michael J Gough and Richard G Vile: Gene therapy for renal cancer