The Genetics Of Renal Disease

Author : Richard P. Lifton
Publisher : Academic Press
ISBN 13 : 0080924271
Total Pages : 895 pages
Book Rating : 4.74/5 ( download)

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Download or read book Genetic Diseases of the Kidney written by Richard P. Lifton and published by Academic Press. This book was released on 2009-02-25 with total page 895 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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)

Author : David B. Mount
Publisher : Elsevier Health Sciences
ISBN 13 : 1416002529
Total Pages : 604 pages
Book Rating : 4.29/5 ( download)

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Download or read book Molecular and Genetic Basis of Renal Disease written by David B. Mount and published by Elsevier Health Sciences. This book was released on 2008-01-01 with total page 604 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Author : Frances Flinter
Publisher :
ISBN 13 :
Total Pages : 600 pages
Book Rating : 4.36/5 ( download)

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Download or read book The Genetics of Renal Disease written by Frances Flinter and published by . This book was released on 2003 with total page 600 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Author : Harvest F. Gu
Publisher : Frontiers Media SA
ISBN 13 : 2889637379
Total Pages : 119 pages
Book Rating : 4.79/5 ( download)

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Download or read book Genetics of Kidney Diseases written by Harvest F. Gu and published by Frontiers Media SA. This book was released on 2020-05-22 with total page 119 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Author : Adrian Spitzer
Publisher : Springer Science & Business Media
ISBN 13 : 1461316030
Total Pages : 453 pages
Book Rating : 4.39/5 ( download)

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Download or read book Inheritance of Kidney and Urinary Tract Diseases written by Adrian Spitzer and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 453 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Author : A. Sessa
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 9783805565516
Total Pages : 234 pages
Book Rating : 4.18/5 ( download)

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Download or read book Hereditary Kidney Diseases written by A. Sessa and published by Karger Medical and Scientific Publishers. This book was released on 1997-01-01 with total page 234 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Author : Jong Hoon Park
Publisher : Springer
ISBN 13 : 9811020418
Total Pages : 128 pages
Book Rating : 4.14/5 ( download)

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Download or read book Cystogenesis written by Jong Hoon Park and published by Springer. This book was released on 2016-10-12 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a highly prevalent hereditary renal disorder in which fluid-filled cysts are appeared in both kidneys. Main causative genes of ADPKD are PKD1 and PKD2, encoding for polycystin-1 (PC1) and polycystin-2 (PC2) respectively. Those proteins are localized on primary cilia and function as mechanosensor in response to the fluid flow, translating mechanistic stimuli into calcium signaling. With mutations either of PKD1 or PKD2, hyper-activated renal tubular epithelial cell proliferation is observed, followed by disrupted calcium homeostasis and aberrant intracellular cyclic AMP (cAMP) accumulation. Increased cell proliferation with fluid secretion leads to the development of thousands of epithelial-lined, fluid-filled cysts in kidneys. It is also accompanied by interstitial inflammation, fibrosis, and finally reaching end-stage renal disease (ESRD). In human ADPKD, the age at which renal failure typically occurs is later in life, however no specific targeted medications are available to cure ADPKD. Recently, potential therapeutic targets or surrogate diagnostic biomarkers for ADPKD are proposed with the advances in the understanding of ADPKD pathogenesis, and some of them were attempted for clinical trials. Herein, we will summarize genetic and epi-genetic molecular mechanisms in ADPKD progression, and overview the currently available biomarkers or potential therapeutic reagents suggested.

Author : Ariela Benigni
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3805585055
Total Pages : 177 pages
Book Rating : 4.57/5 ( download)

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Download or read book Gene Therapy for Renal Diseases and Transplantation written by Ariela Benigni and published by Karger Medical and Scientific Publishers. This book was released on 2008-01-01 with total page 177 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Author : Jia Rao
Publisher : Frontiers Media SA
ISBN 13 : 2832517668
Total Pages : 190 pages
Book Rating : 4.66/5 ( download)

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Download or read book Genetics and epigenetics of chronic kidney disease written by Jia Rao and published by Frontiers Media SA. This book was released on 2023-03-15 with total page 190 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Author : Amin Y. Barakat
Publisher :
ISBN 13 :
Total Pages : 384 pages
Book Rating : 4.20/5 ( download)

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Download or read book The Kidney in Genetic Disease written by Amin Y. Barakat and published by . This book was released on 1986 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: