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.

Download or read book Inherited Disorders of the Kidney written by Stephen H. Morgan and published by . This book was released on 1998 with total page 654 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Congenital Anomalies of the Kidney and Urinary Tract written by Amin J. Barakat and published by Springer. This book was released on 2016-06-08 with total page 368 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

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:

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)

Download or read book Prevention of Kidney and Urinary Tract Diseases written by National Institutes of Health (États-Unis) and published by . This book was released on 1978 with total page 340 pages. Available in PDF, EPUB and Kindle. Book excerpt:

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.

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:

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 126 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.

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

Download or read book Prevention of Kidney and Urinary Tract Diseases written by Cecil H. Coggins and published by . This book was released on 1978 with total page 348 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Molecular and Genetic Basis of Renal Disease E Book written by David B. Mount and published by Elsevier Health Sciences. This book was released on 2007-10-25 with total page 606 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.

Download or read book The Genetics of Renal Tract Disorders written by Martin d'A. Crawfurd and published by . This book was released on 1988 with total page 688 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Kidney Disease and Urinary Tract Disorders Sourcebook Fourth Edition written by James Chambers and published by . This book was released on 2024-12 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Millions of Americans experience difficulties involving the kidneys, ureters, bladder, and urethra--the components of the urinary system. Problems can be caused by illness, injury, genetics, or aging and include disorders such as urinary incontinence, urinary tract infections and cancers, kidney stones, and kidney failure. According to the Centers for Disease Control and Prevention (CDC), about 37 million U.S. adults are estimated to have chronic kidney disease (CKD), and most of them do not know they have it. Although kidney disease and urinary tract disorders can have a significant impact on a person's physical, emotional, and social well-being, recent medical advances offer the promise of more effective treatments and they provide the means by which those affected can learn to cope more successfully with related challenges. Additionally, by understanding the risk factors associated with these types of disorders, people can make lifestyle adjustments and take preventive measures to preserve urological health. Kidney Disease and Urinary Tract Disorders Sourcebook, Fourth Edition provides information about the vital organs of the urinary system and explains how they work. It talks about the causes, symptoms, diagnosis, and treatment of various problems that impact the kidney and urinary system, including acute kidney injury, bladder stones, chronic kidney disease, kidney cysts, kidney stones, solitary kidney, urethral stricture, urinary tract infections (UTIs), and so on. It also discusses the genetic and congenital disorders along with the cancers that affect the kidneys and urinary tract. Various diagnostic tests such as creatinine test, blood urea nitrogen test, cystatin marker test, kidney biopsy, renal panel test, urine test, and urinary tract imaging that are used to detect kidney disease are also discussed in detail. It explains the treatments used to replace lost kidney function such as hemodialysis, peritoneal dialysis, and kidney transplantation. Information about Medicare coverage available for dialysis and kidney transplant service is also provided. The book concludes with a glossary of related terms, and a directory of additional resources that provide help and information to patients with kidney disease and urinary tract disorders. Part 1: Understanding the Urinary System provides information about the vital organs of the urinary system and explains how they work. It talks about risk factors for kidney disease and provides statistical data on the prevalence of kidney disease in the United States. Part 2: Acute and Chronic Kidney Diseases focuses on diseases and disorders affecting the kidneys, including acute kidney injury, chronic kidney disease, kidney cysts, renal artery stenosis, and diabetes insipidus. Kidney diseases that affect children are also explained in detail along with the information about immune disorders of kidney. Part 3: Diagnostic Tests for Kidney Disease provides information about various tests used to diagnose kidney disease such as creatinine test, blood urea nitrogen test, cystatin marker test, kidney biopsy, renal panel test, urine test, and urinary tract imaging. Part 4: Disorders of the Urinary Tract provides an overview about urinary tract infections (UTIs) and explains how they can affect adults, children, and pregnant women. Facts about novel treatment approach and complementary therapy for UTI are also provided. It provides information about various other disorders of the urinary tract such as solitary kidney, glomerular diseases, amyloidosis, urethral stricture, and so on. The congenital defects of the urinary tract and genitals are also explained. Part 5: Disorders of the Bladder pays particular attention to problems of the bladder including bladder stones, urinary incontinence, urinary retention, interstitial cystitis, etc. Symptoms, diagnostic tests, and available treatments are discussed. Part 6: Genetic and Congenital Disorders that Affect the Kidneys offers information about the causes, symptoms, diagnosis, and treatment of various genetic and congenital disorders that affect the kidney such as Alport syndrome, Bartter syndrome, ectopic kidney, Fabry disease, medullary sponge kidney, and primary hyperoxaluria. Part 7: Cancers of the Kidneys and Urinary Tract describes the causes, symptoms, diagnosis, and treatment of various cancers that can affect the different components of the urinary system, including kidney cancer, bladder cancer, urethral cancer, and prostate cancer. Part 8: Kidney Failure: End-Stage Renal Disease explains treatments used to replace lost kidney function such as hemodialysis, peritoneal dialysis, and kidney transplantation. It talks about conservative management for kidney failure along with Medicare coverage available for dialysis and kidney transplant service. Information about end-of-life care for patients suffering from kidney disease is also provided. Part 9: Additional Help and Information offers a glossary of important terms and a directory of government and private organizations that provide help and information to patients with kidney disease and urinary tract disorders.

Download or read book Pediatric Nephrology written by Ellis D. Avner and published by Springer Science & Business Media. This book was released on 2009-08-20 with total page 2059 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Oxford Textbook of Clinical Nephrology written by Neil N. Turner and published by Oxford University Press. This book was released on 2015-10-29 with total page 3045 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Handbook of Life Course Health Development written by Neal Halfon and published by Springer. This book was released on 2017-11-20 with total page 667 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.