Genetic Diseases of the Kidney

• Author : Richard P. Lifton,Stefan Somlo,Gerhard H. Giebisch,Donald W. Seldin
• Publisher : Academic Press
• Release : 25 February 2009

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

• Author : Harvest F. Gu,Martin H. De Borst
• Publisher : Frontiers Media SA
• Release : 22 May 2020

• Author : David B. Mount,Martin R. Pollak
• Publisher : Elsevier Health Sciences
• Release : 01 January 2008

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

• Author : Frances Flinter,E. R. Maher,Anand Saggar-Malik
• Publisher : Oxford Monographs on Medical G
• Release : 07 June 2023

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

• Author : Lisa M. Guay-Woodford,Vicente E. Torres,American Society of Nephrology
• Publisher : Unknown
• Release : 07 June 2023

• Author : Adrian Spitzer,Ellis D. Avner
• Publisher : Springer Science & Business Media
• Release : 06 December 2012

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

• Author : Ellis D. Avner,Lisa M. Guay-Woodford
• Publisher : Unknown
• Release : 07 June 1999

• Author : Amin Y. Barakat
• Publisher : Unknown
• Release : 07 June 1986

• Author : Jinghua Hu,Yong Yu
• Publisher : CRC Press
• Release : 24 October 2019

This volume focuses on the investigatory methods applied to autosomal dominant polycystic kidney disease (ADPKD), one of the most common human genetic diseases. ADPKD is caused by mutations in PKD1 and TRPP2, two integral membrane proteins that function as receptor/ion channels in primary cilia of tubular epithelial cells. Thus, ADPKD belongs to ciliopathies, a group of disorders caused by abnormal cilia formation or function. This proposed book will cover the state-of-the-art methods ranging from molecular biology, biochemistry, electrophysiology, to

• Author : Stephen H. Morgan,Jean-Pierre Grünfeld
• Publisher : Unknown
• Release : 07 June 1998

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 coversthe dramatic clinical and scientific advances that have been made in the past decade.

• Author : Ariela Benigni,Giuseppe Remuzzi
• Publisher : Karger Medical and Scientific Publishers
• Release : 01 January 2008

Initially conceived as a strategy to remedy inherited genetic disorders, gene therapy has been successfully applied in the last decade to ameliorate the renal function compromised by progressive renal diseases and to prevent kidney allograft rejection in experimental animals. In the present book, world-renowned experts are presenting new insights into viral and non-viral systems used to effect gene delivery, one chapter being dedicated to the new field of RNA interference (RNAi). This latter method may be successfully used in renal

• Author : Jong Hoon Park,Curie Ahn
• Publisher : Springer
• Release : 12 October 2016

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

• Author : A. Sessa
• Publisher : Karger Medical and Scientific Publishers
• Release : 07 June 1997

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 : Martin d'A. Crawfurd
• Publisher : Oxford University Press, USA
• Release : 07 June 1988

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

• Author : Gianluigi Zaza,Giovanni Gambaro
• Publisher : MDPI
• Release : 29 December 2020

Rare kidney diseases comprise a large group of different life-threatening or chronically debilitating disorders that affect very small numbers of people (<1 in 2000 individuals in Europe and <200,000 in USA) with local or systemic manifestations. For several years, the research and development of treatments in this field have been neglected in favor of more common diseases. The main reasons for the lack of interest in rare kidney diseases seem to be the small numbers of patients and limited epidemiological data on the