Inherited Disorders Of The Kidney

Author : Richard P. Lifton,Stefan Somlo,Gerhard H. Giebisch,Donald W. Seldin
Publisher : Academic Press
Page : 895 pages
File Size : 40,7 Mb
Release : 2009-02-25
Category : Science
ISBN : 9780080924274

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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 : Stephen H. Morgan,Jean-Pierre Grünfeld
Publisher : Unknown
Page : 654 pages
File Size : 40,6 Mb
Release : 1998
Category : Medical
ISBN : UOM:39015046876911

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Inherited Disorders of the Kidney by Stephen H. Morgan,Jean-Pierre Grünfeld Pdf

A high proportion of adults with end-stage renal failure are suffering from an inherited disorder of the kidneys. This is the first book to present a practical approach to the investigation and management of people with inherited renal disorders. Taking an international perspective, it covers the dramatic clinical and scientific advances that have been made in the past decade.

Author : David B. Mount,Martin R. Pollak
Publisher : Elsevier Health Sciences
Page : 604 pages
File Size : 50,5 Mb
Release : 2008-01-01
Category : Medical
ISBN : 9781416002529

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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 : 52,7 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9781461316039

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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 : Harvest F. Gu,Martin H. De Borst
Publisher : Frontiers Media SA
Page : 119 pages
File Size : 51,7 Mb
Release : 2020-05-22
Category : Electronic
ISBN : 9782889637379

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

Author : Stephen H. Morgan
Publisher : Unknown
Page : 632 pages
File Size : 52,7 Mb
Release : 1998
Category : Genetic disorders
ISBN : OCLC:1176178592

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Inherited Disorders of the Kidney by Stephen H. Morgan Pdf

Author : Jong Hoon Park,Curie Ahn
Publisher : Springer
Page : 126 pages
File Size : 47,9 Mb
Release : 2016-10-12
Category : Medical
ISBN : 9789811020414

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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 : Hugh C. Rayner,Mark E. Thomas,David V. Milford
Publisher : Springer Nature
Page : 401 pages
File Size : 49,8 Mb
Release : 2020-06-05
Category : Medical
ISBN : 9783030430276

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Understanding Kidney Diseases by Hugh C. Rayner,Mark E. Thomas,David V. Milford Pdf

This book combines the reference material of a nephrology textbook with the everyday relevance of a clinical handbook. This second edition develops and expands upon the success of the first. All the content has been updated and entirely new chapters on acid-base disorders and stone disease have been added. Understanding Kidney Diseases includes over 60 real-life case studies and is illustrated with over 200 figures. Readers can test their knowledge with a bank of multiple-choice questions and put it into practice by answering questions that patients frequently ask. The book provides all that students, residents and fellows need in order to approach a patient with a kidney problem with confidence.

Author : A. Sessa
Publisher : Karger Medical and Scientific Publishers
Page : 234 pages
File Size : 54,7 Mb
Release : 1997-01-01
Category : Medical
ISBN : 3805565518

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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 : Amin Y. Barakat
Publisher : Unknown
Page : 384 pages
File Size : 45,7 Mb
Release : 1986
Category : Medical
ISBN : UOM:39015011453720

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The Kidney in Genetic Disease by Amin Y. Barakat Pdf

Author : Thomas Rath
Publisher : BoD – Books on Demand
Page : 307 pages
File Size : 52,7 Mb
Release : 2018-02-21
Category : Medical
ISBN : 9789535138433

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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 : Neil N. Turner,Norbert Lameire,David J. Goldsmith,Christopher G. Winearls,Jonathan Himmelfarb,Giuseppe Remuzzi
Publisher : Oxford University Press
Page : 3045 pages
File Size : 51,5 Mb
Release : 2015-10-29
Category : Medical
ISBN : 9780191017650

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Oxford Textbook of Clinical Nephrology by Neil N. Turner,Norbert Lameire,David J. Goldsmith,Christopher G. Winearls,Jonathan Himmelfarb,Giuseppe Remuzzi Pdf

This fourth edition of the Oxford Textbook of Clinical Nephrology builds on the success and international reputation of the publication as an important resource for the practising clinician in the field. It provides practical, scholarly, and evidence-based coverage of the full spectrum of clinical nephrology, written by a global faculty of experts. The most relevant and important reference to clinical nephrology, this is an authoritative and comprehensive textbook combining the clinical aspects of renal disease essential to daily clinical practice with extensive information about the underlying basic science and current evidence available. Each section of the textbook has been critically and comprehensively edited under the auspices of a leading expert in the field. This new edition has been significantly expanded and reapportioned to reflect developments and new approaches to topics, and includes treatment algorithms to aid and enhance patient care where possible. The fourth edition offers increased focus on the medical aspects of transplantation, HIV-associated renal disease, and infection and renal disease, alongside entirely new sections on genetic topics and clinical and physiological aspects of fluid/electrolyte and tubular disorders. The emphasis throughout is on marrying advances in scientific research with clinical management. Richly illustrated throughout in full colour, this is a truly modern and attractive edition which reinforces the Oxford Textbook of Clinical Nephrology's position as an indispensable reference work of consistent quality and reliability. Enriched and refined by careful revision, this new edition continues the tradition of excellence. This print edition of The Oxford Textbook of Clinical Nephrology comes with a year's access to the online version on Oxford Medicine Online. By activating your unique access code, you can read and annotate the full text online, follow links from the references to primary research materials, and view, enlarge and download all the figures and tables. Oxford Medicine Online is mobile optimized for access when and where you need it.

Author : Neal Halfon,Christopher B. Forrest,Richard M. Lerner,Elaine M. Faustman
Publisher : Springer
Page : 667 pages
File Size : 45,7 Mb
Release : 2017-11-20
Category : Medical
ISBN : 9783319471433

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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 : Frances Flinter,E. R. Maher,Anand Saggar-Malik
Publisher : Unknown
Page : 600 pages
File Size : 53,6 Mb
Release : 2003
Category : Genetic disorders
ISBN : UOM:39015058871636

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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 : Ellis D. Avner,William E. Harmon,Patrick Niaudet,Norishige Yoshikawa
Publisher : Springer Science & Business Media
Page : 2059 pages
File Size : 46,8 Mb
Release : 2009-08-20
Category : Medical
ISBN : 9783540763277

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Pediatric Nephrology by Ellis D. Avner,William E. Harmon,Patrick Niaudet,Norishige Yoshikawa Pdf

Here is an extensive update of Pediatric Nephrology, which has become the standard reference text in the field. It is global in perspective and reflects the international group of editors, who are well-recognized experts in pediatric nephrology. Within this text, the development of kidney structure and function is followed by detailed and comprehensive chapters on all childhood kidney diseases.