Genetic Diseases of the Kidney
Genetic Diseases of the Kidney

Author: Richard P. Lifton

Publisher: Academic Press

Published: 2009-02-25

Total Pages: 895

ISBN-13: 0080924271

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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)

Molecular and Genetic Basis of Renal Disease
Molecular and Genetic Basis of Renal Disease

Author: David B. Mount

Publisher: Elsevier Health Sciences

Published: 2008-01-01

Total Pages: 604

ISBN-13: 1416002529

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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.

Cystogenesis
Cystogenesis

Author: Jong Hoon Park

Publisher: Springer

Published: 2016-10-12

Total Pages: 128

ISBN-13: 9811020418

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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.

Handbook of Life Course Health Development
Handbook of Life Course Health Development

Author: Neal Halfon

Publisher: Springer

Published: 2017-11-20

Total Pages: 667

ISBN-13: 3319471430

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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.

Podocytopathy
Podocytopathy

Author: Z.-H. Liui

Publisher: Karger Medical and Scientific Publishers

Published: 2014-05-16

Total Pages: 274

ISBN-13: 3318026514

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The podocyte is a key cell that forms the last barrier of the kidney filtration unit. One of the most exciting developments in the field of nephrology in the last decade has been the elucidation of its biology and its role in the pathophysiology of inherited and acquired glomerular disease, termed podocytopathy. In this publication, world-renowned experts summarize the most recent findings and advances in the field: they describe the unique biological features and injury mechanisms of the podocyte, novel techniques used in their study, and diagnosis and potential therapeutic approaches to glomerular diseases. Due to its broad scope, this publication is of great value not only for clinical nephrologists and researchers, but also for students, residents, fellows, and postdocs.

Chronic Kidney Disease
Chronic Kidney Disease

Author: Thomas Rath

Publisher: BoD – Books on Demand

Published: 2018-02-21

Total Pages: 307

ISBN-13: 953513843X

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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.

Genetics of Bone Biology and Skeletal Disease
Genetics of Bone Biology and Skeletal Disease

Author: Rajesh V. Thakker

Publisher: Academic Press

Published: 2017-10-31

Total Pages: 880

ISBN-13: 0128041986

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Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. - Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments - Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders - Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder

Diagnostic Pathology: Kidney Diseases E-Book
Diagnostic Pathology: Kidney Diseases E-Book

Author: Robert B. Colvin

Publisher: Elsevier Health Sciences

Published: 2023-08-16

Total Pages: 1267

ISBN-13: 0443109230

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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 - Includes an eBook version that enables you to access all text, figures, and references, with the ability to search, customize your content, make notes and highlights, and have content read aloud

Understanding Kidney Diseases
Understanding Kidney Diseases

Author: Hugh C. Rayner

Publisher: Springer

Published: 2020-07-15

Total Pages: 398

ISBN-13: 9783030430269

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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.

Diabetic Nephropathy
Diabetic Nephropathy

Author: Joris J. Roelofs

Publisher: Springer

Published: 2018-10-29

Total Pages: 540

ISBN-13: 3319935216

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This book provides an overview of the most up-to-date research on diabetic nephropathy and the current understanding of its pathogenesis, clinical features and socio-economic developments. Written by leading experts in the field, it provides a comprehensive synthesis of clinical and pathophysiological aspects from a mechanism-based point of view, and reviews evidence-based treatment modalities for the prevention and management of diabetic nephropathy. In addition, closely related areas such as diabesity, diabetic eye disease and macrovascular involvement in diabetes are addressed. Diabetic Nephropathy will be of interest for nephrologists, diabetologists, internists, transplant physicians, public health professionals, basic scientists, geneticists, epidemiologists, pathologists, and molecular and cell biologists working in the field of diabetes and its complications.