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Genetic Diseases of the Kidney

Author: Richard P. Lifton

Publisher: Academic Press

Published: 2009-02-25

Total Pages: 895

ISBN-13: 0080924271

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)

Hereditary Kidney Diseases

Author: A. Sessa

Publisher: Karger Medical and Scientific Publishers

Published: 1997-01-01

Total Pages: 234

ISBN-13: 9783805565516

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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

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.

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.

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.

Genetics of Kidney Diseases

Author: Harvest F. Gu

Publisher: Frontiers Media SA

Published: 2020-05-22

Total Pages: 119

ISBN-13: 2889637379

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Silva's Diagnostic Renal Pathology

Author: Xin J. Zhou

Publisher: Cambridge University Press

Published: 2017-03-02

Total Pages: 691

ISBN-13: 1316613984

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An algorithmic approach to interpreting renal pathology, updated in light of recent advances in understanding and new classification schemes.

Understanding Kidney Diseases

Author: Hugh C. Rayner

Publisher: Springer Nature

Published: 2020-06-05

Total Pages: 401

ISBN-13: 3030430278

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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.

Living Kidney Donation

Author: Krista L. Lentine

Publisher: Springer Nature

Published: 2021-03-05

Total Pages: 390

ISBN-13: 3030536181

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This book provides a complete guide to the evaluation, care, and follow-up of living kidney donors. Living donor kidney transplantation is established as the best treatment option for kidney failure. However, despite the tremendous benefits of living donation to recipients and society, the outcomes and optimal care of donors themselves have received relatively less attention. Fortunately, things are changing – including recent landmark developments in living donor risk assessment, policy and guidance. This volume offers authoritative, evidence-based guidance on the full range of clinical scenarios encountered in the evaluation and care of living kidney donors. The approach to key elements of risk assessment, ethical considerations and informed consent is accompanied by recommendations for patient-centered care before, during, and after donation. Advocacy initiatives and policies to remove disincentives to donation and advance a defensible system of practice are also discussed. General and transplant nephrologists, as well as related allied health professionals, can look to this book as a comprehensive resource addressing contemporary clinical topics in the practice of living kidney donation.

Pediatric Kidney Disease

Author: Denis F. Geary

Publisher: Springer

Published: 2017-02-16

Total Pages: 1968

ISBN-13: 3662529726

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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.