The Genetics of Renal Disease

Erscheinungsjahr 2004
ISBN: 978-0-19-263146-6
Verlag: Oxford University Press

Buch, Englisch, 582 Seiten, Cover-to-boards, Format (B × H): 173 mm x 248 mm, Gewicht: 1230 g

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.

Autoren/Hrsg.

Flinter, Frances

Maher, Eamon

Saggar-Malik, Anand

Fachgebiete

• Naturwissenschaften Biowissenschaften Molekularbiologie
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Nephrologie
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Humangenetik

Inhaltsverzeichnis

- 1: Shehla Mohammed: Introduction to clinical genetics

- 2: A David Makanjuola and 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 and 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 and 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 and William van't Hoff: Primary inherited metabolic diseases of the kidney

- 13: Pasquale Strazzullo and Pietro Vuotto: Genetics of stone forming diseases

- 14: David Geller, Mark A J Devonald and Fiona E Karet: Disorders of tubular transport

- 15: Astrid P Weber and Robert F Mueller: Tuberous Sclerosis complex

- 16: Susan M Huson and Natalie Canham: Neurofibromatosis

- 17: Phil L Beales, Patrick S Parfrey and Nicholas Katsanis: The Bardet-Biedl and Alström syndromes

- 18: Richard Sandford and 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 and Laura Schmidt: Inherited predispositions to kidney cancer

- 23: Amand K Saggar-Malik: Gene therapy in renal disease

- 24: Michael J Gough and Richard G Vile: Gene therapy for renal cancer