Genetics of renal diseases, (2nd Ed.)
Oxford Monographs on Medical Genetics Series, Vol. 48

Coordinators: Flinter Frances, Maher Eamon, Saggar-Malik Anand

Language: Anglais
Cover of the book Genetics of renal diseases,

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544 p. · 17.3x24.8 cm · Hardback
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. This book 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 which involve the urinary tract. These are incorporated within the book.
1: Shehla Mohammed: Introduction to clinical genetics, 2: A David Makanjuola & John E Scoble: Renal function and management of renal disease, 3: Paul JD Winyard: Renal development, 4: Adrian S Woolf: Kidney and lower urinary tract malformations, 5: David J Amor, Lachlan de Crespigny & RJ McKinlay Gardner: Urinary tract defects and chromosomal disorders, 6: Ian D Young: Dysmophic syndromes with renal involvement, 7: Karl Tryggvason: Primary hereditary nephropaties, 8: Frances Flinter: Alport's Syndrome, 9: Anand Saggar-Malik & Stefan Somlo: Autosomal dominant polycystic kidney disease, 10: Lisa M Guay-Woodford: Autosomal recessive polycystic kidney disease, 11: Anand 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 AJ Devonald & Fiona E Karet: Disorders of tubular support, 15: RF Mueller & AP Weber: Tuberous Sclerosis complex, 16: Susan M Huson & Natalie Canham: Neurofibromatosis, 17: Phil Beales, Patrick Parfrey & Nicholas Katsanis: The Bardet-Biedl and Alstrom 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 et al: Inherited predispositions to kidney cancer, 23: Michael J Gough & Richard G Vile: Gene therapy for renal cancer