Genetic Diseases of the Kidney

Genetic Diseases of the Kidney PDF

Author: Richard P. Lifton

Publisher: Academic Press

Published: 2009-02-25

Total Pages: 895

ISBN-13: 0080924271

DOWNLOAD EBOOK →

Genetic approaches have revolutionized our understanding of the fundamental causes of human disease by permitting the identification of specific genes in which variation causes or contributes to susceptibility to, or protection from, disease. More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine. Genetic Diseases of the Kidney offers expert insight into the role of genetic abnormalities in the pathogenesis of abnormal kidney function and kidney disease. Genetic abnormalities are carefully presented within the appropriate physiologic context so that readers will understand not only which genes are linked to which diseases but also which pathways lead from a genetic “disturbance to the systemic appearance of disease. Lays the essential foundation of mammalian genetics principles for medical professionals with little or no background in genetics Analyzes specific renal diseases – both monogenic disorders confined to the kidney and systemic diseases with renal involvement – and explains their genetic causes World-renowned editors and authors offer expert frameworks for understanding the links between genes and complex clinical disorders (i.e., lupus, diabetes, HIV, and hypertension)

Molecular and Genetic Basis of Renal Disease

Molecular and Genetic Basis of Renal Disease PDF

Author: David B. Mount

Publisher: Elsevier Health Sciences

Published: 2008-01-01

Total Pages: 604

ISBN-13: 1416002529

DOWNLOAD EBOOK →

This companion to Brenner and Rector's The Kidney offers a state-of-the-art summary of the most recent advances in renal genetics. Molecular and Genetic Basis for Renal Disease provides the nephrologist with a comprehensive look at modern investigative tools in nephrology research today, and reviews the molecular pathophysiology of the nephron as well as the most common genetic and acquired renal diseases. A comprehensive clinical review of Medelian renal disease is also be included. Detailed review of the molecular anatomy and pathophysiology of the nephron that provides relevant basic science to consider when diagnosing and managing patients with these disorders.

The Genetics of Renal Disease

The Genetics of Renal Disease PDF

Author: Frances Flinter

Publisher:

Published: 2003

Total Pages: 600

ISBN-13:

DOWNLOAD EBOOK →

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.

Inheritance of Kidney and Urinary Tract Diseases

Inheritance of Kidney and Urinary Tract Diseases PDF

Author: Adrian Spitzer

Publisher: Springer Science & Business Media

Published: 2012-12-06

Total Pages: 453

ISBN-13: 1461316030

DOWNLOAD EBOOK →

Genetic disorders have emerged as a prominent cause of morbidity and mor tality among infants and adults. As many as 10% to 20% of hospital admis sions and at least 10% of the mortality in this age group are due to inherited diseases. There are at least two factors that have brought genetic disorders into the forefront of pediatrics. One is a great reduction in childhood mortality due to infections and nutritional deficiency states, and the other is the rapid progress made in the identification of genetic defects. Amniocentesis, chorionic villus sampling, and recombinant DNA technology have already had a tremendous impact on the practice of medicine. This is why the first two chapters of this volume are dedicated to general principles of molecular genetics and to a description of the techniques used to diagnose genetic disorders at the DNA level. The relevance of this new area of science to the study of inherited renal diseases is reflected in the large body of knowledge that has been generated regarding the association between various glomerular nephritides and genetic markers such as the HLA system, and even more impressively in the direct or indirect identification of abnormal genes or gene products in Alport's syn drome, autosomal dominant polycystic kidney disease, and Lowe's syndrome. These discoveries figure prominently in the pages of this book. Yet, the progress we have made has barely scratched the surface of the problem.

Hereditary Kidney Diseases

Hereditary Kidney Diseases PDF

Author: A. Sessa

Publisher: Karger Medical and Scientific Publishers

Published: 1997-01-01

Total Pages: 234

ISBN-13: 9783805565516

DOWNLOAD EBOOK →

I would recommend this slim volume for geneticists with an interest in hereditary kidney diseases who would appreciate well written and referenced, up to date papers on the specific conditions included.' Journal of Medical Genetics

Gene Therapy for Renal Diseases and Transplantation

Gene Therapy for Renal Diseases and Transplantation PDF

Author: Ariela Benigni

Publisher: Karger Medical and Scientific Publishers

Published: 2008-01-01

Total Pages: 177

ISBN-13: 3805585055

DOWNLOAD EBOOK →

Initially conceived as a strategy to remedy inherited genetic disorders, gene therapy has been successfully applied in the last decade to ameliorate the renal function compromised by progressive renal diseases and to prevent kidney allograft rejection in experimental animals. In the present book, world-renowned experts are presenting new insights into viral and non-viral systems used to effect gene delivery, one chapter being dedicated to the new field of RNA interference (RNAi). This latter method may be successfully used in renal ischemia-reperfusion injury, trauma and transplantation. In the near future, gene therapy might also prove to be a new strategy to target molecules involved in tissue damage and inflammation processes that underlie ARF. So far, gene transfer has been successfully applied in experimental glomerulonephritis and interstitial fibrosis, and studies in larger animals are keenly awaited. Also covered are issues related to transplantation, which is the therapy of choice in many end-stage organ failures. Transfer of genes whose protein products have immunomodulatory properties have proven beneficial in treating acute and chronic graft rejection, one of the problems not satisfactorily solved by current anti-rejection drugs. Gene therapy thus may become a reality in clinical transplantation once its efficacy in larger animals has been demonstrated. Last but not least, a possible benefit of targeted gene therapy in renal cancer or HIV-associated nephropathy is explored. Covering a wide spectrum of topics, this publication provides a valuable overview of current developments and issues.

Chronic Kidney Disease

Chronic Kidney Disease PDF

Author: Thomas Rath

Publisher: BoD – Books on Demand

Published: 2018-02-21

Total Pages: 307

ISBN-13: 953513843X

DOWNLOAD EBOOK →

Known worldwide, chronic kidney disease (CKD) is a disease that affects up to 4% of the population with increasing figures also in the developing countries. Life expectancy of patients affected by CKD is shortened compared to the overall population, and only a minority of patients reach end-stage renal disease (ESRD) with the need for dialysis or renal transplantation; death overtakes dialysis. In the 13 chapters, this book sheds light on the different aspects related to pathophysiology and clinical aspects of CKD, providing interesting insights into not only inflammation and cardiovascular risk but also the interplay of hormones and the functional aspects of endothelial function. In addition, chapters dealing with genetic aspects of polycystic kidney disease and also the clinical handling of patients with CKD and peritoneal dialysis will be beneficial for the open-minded reader.

Lanterna Rally - Theme by Grace Themes