Inheritance Of Kidney And Urinary Tract Diseases

Author : Adrian Spitzer,Ellis D. Avner
Publisher : Springer Science & Business Media
Page : 453 pages
File Size : 45,5 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 : Dean T. Jamison,Joel G. Breman,Anthony R. Measham,George Alleyne,Mariam Claeson,David B. Evans,Prabhat Jha,Anne Mills,Philip Musgrove
Publisher : World Bank Publications
Page : 1449 pages
File Size : 48,8 Mb
Release : 2006-04-02
Category : Medical
ISBN : 9780821361801

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Disease Control Priorities in Developing Countries by Dean T. Jamison,Joel G. Breman,Anthony R. Measham,George Alleyne,Mariam Claeson,David B. Evans,Prabhat Jha,Anne Mills,Philip Musgrove Pdf

Based on careful analysis of burden of disease and the costs ofinterventions, this second edition of 'Disease Control Priorities in Developing Countries, 2nd edition' highlights achievable priorities; measures progresstoward providing efficient, equitable care; promotes cost-effectiveinterventions to targeted populations; and encourages integrated effortsto optimize health. Nearly 500 experts - scientists, epidemiologists, health economists,academicians, and public health practitioners - from around the worldcontributed to the data sources and methodologies, and identifiedchallenges and priorities, resulting in this integrated, comprehensivereference volume on the state of health in developing countries.

Author : Stephen H. Morgan,Jean-Pierre Grünfeld
Publisher : Unknown
Page : 654 pages
File Size : 50,7 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 : Martin d'A. Crawfurd
Publisher : Unknown
Page : 688 pages
File Size : 50,6 Mb
Release : 1988
Category : Medical
ISBN : UOM:39015012562875

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The Genetics of Renal Tract Disorders by Martin d'A. Crawfurd Pdf

This comprehensive account of renal tract disorders examines both hereditary nephropathies and more generalized disorders which affect the renal system. Beginning with introductory chapters on renal anatomy, embryology, and physiology, this extensive study covers many aspects of various disorders, including: urinary tract abnormality in chromosomal disorders and in inherited metabolic diseases; renal stones and crystalluria; renal tubular defects; and primary hereditary nephropathies, including a discussion of Alport's disease. Each chapter describes clinical and pathological features of particular disorders, and reviews the genetics of the disorders, including incidence, inheritance or familial occurrence, and prenatal diagnosis. Original studies are referred to in each section, making this a clear and thorough text for nephrologists, urologists, and geneticists.

Author : Amin Y. Barakat
Publisher : Unknown
Page : 384 pages
File Size : 48,9 Mb
Release : 1986
Category : Medical
ISBN : UOM:39015011453720

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The Kidney in Genetic Disease by Amin Y. Barakat Pdf

Author : Amin J. Barakat,H. Gil Rushton
Publisher : Springer
Page : 368 pages
File Size : 47,7 Mb
Release : 2016-06-08
Category : Medical
ISBN : 9783319292199

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Congenital Anomalies of the Kidney and Urinary Tract by Amin J. Barakat,H. Gil Rushton Pdf

This comprehensive, easy to read reference addresses the clinical implications of congenital anomalies of the kidney and urinary tract (CAKUT) in children. Authored by a panel of internationally recognized pediatric nephrologists and urologists, chapters discuss clinical presentation, workup, interpretation of imaging studies, genetics, prenatal diagnosis, prevention and treatment of various anomalies to help the practitioner understand, diagnose and manage CAKUT. Tables, figures, algorithms and an extensive appendix listing conditions and syndromes associated with CAKUT are featured to assist physicians in the differential diagnosis and workup of different conditions.

Author : Richard P. Lifton,Stefan Somlo,Gerhard H. Giebisch,Donald W. Seldin
Publisher : Academic Press
Page : 895 pages
File Size : 48,5 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 : Ajay Singh,Jeremy Levy,Charles Pusey
Publisher : Karger Medical and Scientific Publishers
Page : 146 pages
File Size : 49,6 Mb
Release : 2013-06-01
Category : Medical
ISBN : 9781908541185

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Fast Facts: Renal Disorders by Ajay Singh,Jeremy Levy,Charles Pusey Pdf

Early detection of renal problems coupled with the appropriate therapeutic strategy can radically reduce the progressive nature of, and complications associated with, chronic kidney disease, and in many instances will result in the successful treatment of acute kidney injury. As many patients will not be seen by nephrologists, it is essential that all healthcare professionals, in hospitals and in the community, have an awareness of renal disease – the presenting signs, differential diagnoses, treatment strategies and approach to the management of complications. 'Fast Facts: Renal Disorders' is an easy-to-read, evidence-based guide to renal diseases and disorders for all doctors, nurses and medical students. It includes: • A clear explanation of proteinuria, hematuria, electrolyte imbalances and acid–base disorders • A concise summary of kidney function tests, imaging techniques and biopsy • Important questions for prompt diagnosis of acute kidney injury • Management options for chronic kidney disease and its complications • Practical guidance on the most common renal problems, including glomerulonephritis, systemic disease, UTIs and kidney stones Written by three specialists of international repute, 'Fast Facts: Renal Disorders' provides the key information required for the optimal care of renal patients. This fully updated second edition will help healthcare professionals assess, identify, treat and refer patients with renal problems appropriately. Directly applicable to the clinical setting, it is essential reading for all primary care providers, junior hospital doctors, specialist trainees, renal nurses and medical students. Contents: • Proteinuria, hematuria and renal investigations • Electrolyte disturbances and acid–base disorders • Acute kidney injury • Chronic kidney disease • Hypertension and diabetic nephropathy • Glomerulonephritis • Systemic disease • Inherited kidney disease • Urinary tract infection • Kidney stones • Urinary tract obstruction and tumors • Renal replacement therapy and transplantation

Author : Frances Flinter,E. R. Maher,Anand Saggar-Malik
Publisher : Unknown
Page : 600 pages
File Size : 47,9 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 : Jong Hoon Park,Curie Ahn
Publisher : Springer
Page : 126 pages
File Size : 49,9 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 : Ellis D. Avner,William E. Harmon,Patrick Niaudet,Norishige Yoshikawa
Publisher : Springer Science & Business Media
Page : 2059 pages
File Size : 41,7 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.

Author : Neal Halfon,Christopher B. Forrest,Richard M. Lerner,Elaine M. Faustman
Publisher : Springer
Page : 667 pages
File Size : 46,8 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 : Robert W. Schrier
Publisher : Lippincott Williams & Wilkins
Page : 1046 pages
File Size : 55,9 Mb
Release : 2007
Category : Medical
ISBN : 0781793076

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Diseases of the Kidney and Urinary Tract by Robert W. Schrier Pdf

The thoroughly updated Eighth Edition of this classic three-volume work provides the most comprehensive, current, and authoritative information on diseases of the kidney and urinary tract. This clinically oriented reference focuses on diagnosis and treatment of specific diseases, disorders, and complications and incorporates the basic science practicing physicians need to evaluate and manage the disease process. Each of the fourteen sections is written by internationally renowned contributors and provides coverage comparable to a complete book. The first two sections review renal basic science and describe current diagnostic tools. The remaining twelve sections cover various types of diseases, including hypertension, urological problems, and urinary tract concerns. Each disease-oriented section begins with an up-to-date review of pathophysiology and then focuses on specific diseases. This edition has new lead authors for more than 25 chapters, and separate chapters on heart disease and the kidney, liver disease and the kidney, and the nephrotic syndrome.

Author : Hugh C. Rayner,Mark E. Thomas,David V. Milford
Publisher : Springer Nature
Page : 401 pages
File Size : 41,7 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 : Neil N. Turner,Norbert Lameire,David J. Goldsmith,Christopher G. Winearls,Jonathan Himmelfarb,Giuseppe Remuzzi
Publisher : Oxford University Press
Page : 3045 pages
File Size : 45,7 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.