The Genetics of Renal Disease

ISBN-13: 9780192631466 / Angielski / Twarda / 2004 / 584 str.

Eamon Maher; Anand Saggar-Malik; Frances Flinter

Opis

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 covers these issues in detail.
The 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, choromosomal 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.
Aimed primarily at clinical and medical geneticists, this book will also appeal to researchers into genetic kidney disease and genetic counsellors as well as nephrologists with an interest in this area.

Recenzje

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.