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OverviewRenal 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. Full Product DetailsAuthor: 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)Publisher: Oxford University Press Imprint: Oxford University Press Volume: 48 Dimensions: Width: 17.30cm , Height: 3.30cm , Length: 24.80cm Weight: 1.230kg ISBN: 9780192631466ISBN 10: 0192631462 Pages: 582 Publication Date: 22 January 2004 Audience: Professional and scholarly , Professional & Vocational Format: Hardback Publisher's Status: Active Availability: To order ![]() Stock availability from the supplier is unknown. We will order it for you and ship this item to you once it is received by us. Table of Contents1: Shehla Mohammed: Introduction to clinical genetics 2: A David Makanjuola & John E Scoble: Renal function and management of renal disease 3: Paul J D Winyard: Renal development 4: Adrian S Woolf: Kidney and lower urinary tract malformations 5: David J Amor, Lachlan de Crespigny & R J McKinlay Gardner: Urinary tract defects and chromosomal disorders 6: Ian D Young: Dysmorphic syndromes with renal involvement 7: Karl Tryggvason: Primary hereditary nephropathies 8: Frances Flinter: Alport Syndrome 9: Anand K Saggar-Malik & Stefan Somlo: Autosomal dominant polycystic kidney disease 10: Lisa M Guay-Woodford: Autosomal recessive polycystic kidney disease 11: Anand K Saggar-Malik: Cystic renal diseases 12: Margaret Town & William van't Hoff: Primary inherited metabolic diseases of the kidney 13: Pasquale Strazzullo & Pietro Vuotto: Genetics of stone forming diseases 14: David Geller, Mark A J Devonald & Fiona E Karet: Disorders of tubular transport 15: Astrid P Weber & Robert F Mueller: Tuberous Sclerosis complex 16: Susan M Huson & Natalie Canham: Neurofibromatosis 17: Phil L Beales, Patrick S Parfrey & Nicholas Katsanis: The Bardet-Biedl and Alstroem syndromes 18: Richard Sandford & Robin G Woolfson: Genetic syndromes with a renal component 19: Stephen H Powis: The genetics of glomerulonephritis and systemic disorders affecting the kidney 20: Richard Grundy: Wilms tumour and the Wilms tumour predisposition syndromes 21: Eamonn R Maher: Von Hippel-Lindau disease 22: Berton Zbar, Gladys Glenn, Maria Turner, Gregor Weirich, Peter Choyke, Stephen Hewitt, Michael Nickerson, Naboru Nakaigawa, W Marston Linehan & Laura Schmidt: Inherited predispositions to kidney cancer 23: Amand K Saggar-Malik: Gene therapy in renal disease 24: Michael J Gough & Richard G Vile: Gene therapy for renal cancerReviewsThis 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. Community Genetics 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. Community Genetics Author InformationTab Content 6Author Website:Countries AvailableAll regions |