The Kidney In Genetic Disease

Author : Richard P. Lifton,Stefan Somlo,Gerhard H. Giebisch,Donald W. Seldin
Publisher : Academic Press
Page : 895 pages
File Size : 40,9 Mb
Release : 2009-02-25
Category : Science
ISBN : 9780080924274

Get Book

Genetic Diseases of the Kidney by Richard P. Lifton,Stefan Somlo,Gerhard H. Giebisch,Donald W. Seldin Pdf

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 : Amin Y. Barakat
Publisher : Unknown
Page : 384 pages
File Size : 50,5 Mb
Release : 1986
Category : Medical
ISBN : UOM:39015011453720

Get Book

The Kidney in Genetic Disease by Amin Y. Barakat Pdf

Author : Harvest F. Gu,Martin H. De Borst
Publisher : Frontiers Media SA
Page : 119 pages
File Size : 44,9 Mb
Release : 2020-05-22
Category : Electronic
ISBN : 9782889637379

Get Book

Genetics of Kidney Diseases by Harvest F. Gu,Martin H. De Borst Pdf

Author : David B. Mount,Martin R. Pollak
Publisher : Elsevier Health Sciences
Page : 604 pages
File Size : 55,7 Mb
Release : 2008-01-01
Category : Medical
ISBN : 9781416002529

Get Book

Molecular and Genetic Basis of Renal Disease by David B. Mount,Martin R. Pollak Pdf

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 : Adrian Spitzer,Ellis D. Avner
Publisher : Springer Science & Business Media
Page : 453 pages
File Size : 53,9 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9781461316039

Get Book

Inheritance of Kidney and Urinary Tract Diseases by Adrian Spitzer,Ellis D. Avner Pdf

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 : Peter D. Vize,Adrian S. Woolf,Jonathan B.L. Bard
Publisher : Elsevier
Page : 592 pages
File Size : 49,8 Mb
Release : 2003-03-14
Category : Science
ISBN : 0080521541

Get Book

The Kidney by Peter D. Vize,Adrian S. Woolf,Jonathan B.L. Bard Pdf

Organogenesis of the kidney has been intensely studied for over a century. In recent years advances in molecular techniques have not only made great inroads into exploring the genetic regulation of this complex process but also began to unravel the molecular basis of many forms of congenital kidney disease. This book is a comprehensive study on these findings and the only book available with such in depth coverage of the kidney. Hundreds of color figures depicting key events in all aspects of kidney development Full coverage of the genetic and cellular basis of kidney development Analysis of the genetic basis of the major congenital kidney diseases

Author : Jong Hoon Park,Curie Ahn
Publisher : Springer
Page : 126 pages
File Size : 42,9 Mb
Release : 2016-10-12
Category : Medical
ISBN : 9789811020414

Get Book

Cystogenesis by Jong Hoon Park,Curie Ahn Pdf

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 : Frances Flinter,E. R. Maher,Anand Saggar-Malik
Publisher : Unknown
Page : 600 pages
File Size : 52,6 Mb
Release : 2003
Category : Genetic disorders
ISBN : UOM:39015058871636

Get Book

The Genetics of Renal Disease by Frances Flinter,E. R. Maher,Anand Saggar-Malik Pdf

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 : A. Sessa
Publisher : Karger Medical and Scientific Publishers
Page : 234 pages
File Size : 44,5 Mb
Release : 1997-01-01
Category : Medical
ISBN : 3805565518

Get Book

Hereditary Kidney Diseases by A. Sessa Pdf

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 : Melissa Helen Little
Publisher : Academic Press
Page : 614 pages
File Size : 54,8 Mb
Release : 2015-08-06
Category : Medical
ISBN : 9780128004388

Get Book

Kidney Development, Disease, Repair and Regeneration by Melissa Helen Little Pdf

Kidney Development, Disease, Repair and Regeneration focuses on the molecular and cellular basis of kidney development, exploring the origins of kidney lineages, the development of kidney tissue subcompartments, as well as the genetic and environmental regulation of kidney development. Special coverage is given to kidney stem cells and possible steps towards kidney repair and regeneration. Emphasis is placed on the fetal origins of postnatal renal disease and our current understanding of the molecular basis of damage and repair. Biomedical researchers across experimental nephrology and developmental biology will find this a key reference for learning how the underlying developmental mechanisms of the kidney will lead to greater advances in regenerative medicine within nephrology. Offers researchers a single comprehensive resource written by leaders from both the developmental biology and the experimental nephrology communities Focuses on understanding the molecular basis of organogenesis in the kidney as well as how this can be affected both genetically and environmentally Explains the underlying developmental mechanisms which influence the kidney’s inherent repair capacity Demonstrates how a deeper understanding of mechanisms will lead to greater advances in regenerative medicine

Author : Jinghua Hu,Yong Yu
Publisher : CRC Press
Page : 361 pages
File Size : 51,6 Mb
Release : 2019-10-24
Category : Medical
ISBN : 9780429888953

Get Book

Polycystic Kidney Disease by Jinghua Hu,Yong Yu Pdf

This volume focuses on the investigatory methods applied to autosomal dominant polycystic kidney disease (ADPKD), one of the most common human genetic diseases. ADPKD is caused by mutations in PKD1 and TRPP2, two integral membrane proteins that function as receptor/ion channels in primary cilia of tubular epithelial cells. Thus, ADPKD belongs to ciliopathies, a group of disorders caused by abnormal cilia formation or function. This proposed book will cover the state-of-the-art methods ranging from molecular biology, biochemistry, electrophysiology, to tools in model animal studies. Key Features Explores the role of cilia in polycystic kidney disease Focuses on myriad state-of-the-art methods and techniques Reviews specific mutations integral to this autosomal genetic disease Includes discussions of model systems

Author : Neal Halfon,Christopher B. Forrest,Richard M. Lerner,Elaine M. Faustman
Publisher : Springer
Page : 667 pages
File Size : 49,7 Mb
Release : 2017-11-20
Category : Medical
ISBN : 9783319471433

Get Book

Handbook of Life Course Health Development by Neal Halfon,Christopher B. Forrest,Richard M. Lerner,Elaine M. Faustman Pdf

This book is open access under a CC BY 4.0 license. ​This handbook synthesizes and analyzes the growing knowledge base on life course health development (LCHD) from the prenatal period through emerging adulthood, with implications for clinical practice and public health. It presents LCHD as an innovative field with a sound theoretical framework for understanding wellness and disease from a lifespan perspective, replacing previous medical, biopsychosocial, and early genomic models of health. Interdisciplinary chapters discuss major health concerns (diabetes, obesity), important less-studied conditions (hearing, kidney health), and large-scale issues (nutrition, adversity) from a lifespan viewpoint. In addition, chapters address methodological approaches and challenges by analyzing existing measures, studies, and surveys. The book concludes with the editors’ research agenda that proposes priorities for future LCHD research and its application to health care practice and health policy. Topics featured in the Handbook include: The prenatal period and its effect on child obesity and metabolic outcomes. Pregnancy complications and their effect on women’s cardiovascular health. A multi-level approach for obesity prevention in children. Application of the LCHD framework to autism spectrum disorder. Socioeconomic disadvantage and its influence on health development across the lifespan. The importance of nutrition to optimal health development across the lifespan. The Handbook of Life Course Health Development is a must-have resource for researchers, clinicians/professionals, and graduate students in developmental psychology/science; maternal and child health; social work; health economics; educational policy and politics; and medical law as well as many interrelated subdisciplines in psychology, medicine, public health, mental health, education, social welfare, economics, sociology, and law.

Author : Thomas Rath
Publisher : BoD – Books on Demand
Page : 307 pages
File Size : 50,5 Mb
Release : 2018-02-21
Category : Medical
ISBN : 9789535138433

Get Book

Chronic Kidney Disease by Thomas Rath Pdf

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.

Author : Robert B. Colvin,Anthony Chang,Lynn D. Cornell
Publisher : Elsevier Health Sciences
Page : 1267 pages
File Size : 45,7 Mb
Release : 2023-08-16
Category : Medical
ISBN : 9780443109232

Get Book

Diagnostic Pathology: Kidney Diseases E-Book by Robert B. Colvin,Anthony Chang,Lynn D. Cornell Pdf

This expert volume in the Diagnostic Pathology series is an excellent point-of-care resource for practitioners at all levels of experience and training. Covering the full range of common and rare nonneoplastic renal diseases, it incorporates the most recent scientific and technical knowledge in the field to provide a comprehensive overview of all key issues relevant to today’s practice. Richly illustrated and easy to use, Diagnostic Pathology: Kidney Diseases, fourth edition, is a visually stunning, one-stop resource for every practicing pathologist, nephrologist, resident, student, or fellow as an ideal day-to-day reference or as a reliable training resource. Provides a comprehensive source for key pathologies and clinical features of more than 265 kidney diseases Features two dozen new chapters on a variety of timely topics, including COVID-19 nephropathies, xenografts, artificial intelligence (AI), digital pathology analysis, harmonized nephropathology terminology, newly identified types of amyloidosis, common artifacts and pitfalls on kidney biopsy, vaccination-associated renal disease, crystal nephropathies, and much more Includes updates from the International Kidney and Monoclonal Gammopathy (IKMG) research group, the American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) classification criteria for IgG4-related disease, Banff Foundation for Allograft Pathology, and others Details updated genetic causes of nephrotic syndromes and antinephrin antibodies in podocytopathies—by the investigator who discovered it Discusses the newly identified variant IgG nephropathy and novel membranous autoantigens Contains chapters on techniques, including immunofluorescence on paraffin sections, C4d staining, and polyomavirus detection in tissue Contains more than 4,300 print and online images, including high-resolution photographs and histologic images, full-color medical illustrations, radiologic images, and more Employs consistently templated chapters, bulleted content, key facts, a variety of tables, annotated images, pertinent references, and an extensive index for quick, expert reference at the point of care Shares the expertise of internationally recognized authors who provide fresh perspectives on multiple topics, with a particular emphasis on practical information that directly assists in making and supporting a diagnosis

Author : Denis F. Geary,Franz Schaefer
Publisher : Springer
Page : 2005 pages
File Size : 46,5 Mb
Release : 2017-02-16
Category : Medical
ISBN : 9783662529720

Get Book

Pediatric Kidney Disease by Denis F. Geary,Franz Schaefer Pdf

The new edition of this valuable clinical resource offers a state of the art, comprehensive review on every clinical condition encountered in pediatric nephrology. International experts present the latest knowledge on epidemiology, diagnosis, management, and prognosis in one concise, clinically focused text, in which care has been taken to couple just the right amount of "need-to-know" basic science with practical clinical guidance that will enable the reader to make efficient, informed decisions. The topics covered include: disorders of renal development, glomerular disorders, the kidney and systemic disease, renal tubular disorders, tubulointerstitial disease, urinary tract disorders, acute kidney injury, hypertension, chronic and end-stage renal disease, and renal replacement therapy. The full-color, highly visual, meticulously crafted format will ensure that the practitioner is able to source and apply information with remarkable ease.