Renal Genetics and Clinical Practice
Special Topic Issue: Nephron Physiology 2011, Vol. 118, No. 1
1st Edition
Published on 11. November 2010
Book
Paperback/Softback
140 pages
978-3-8055-9647-3 (ISBN)
Description
The identification of the underlying genetic cause of many disorders has had a major impact not only on our understanding of disease pathogenesis and the design of novel therapies, but also on the routine clinical diagnosis and management of diseases seen in the nephrological clinic. Moreover, personalized screening, reliable pre-symptomatic testing and preconception counseling have become widely available for many diseases. In this publication, international experts in the field of renal genetics review the current knowledge based on renal phenotypes with variable genetic influences. After an introduction dealing with the role of renal genetics in clinical practice, contributions discuss genetics in various disorders such as: autosomal dominant polycystic kidney disease, hemolytic uremic syndrome, transplant outcomes and genetic variation, nephrotic and proteinuric syndromes, genetics of familial renal cancers, loop disorders, disorders of calcium metabolism, and renal stone disease. Clinicians interested in the genetic causes of renal diseases and their practical implications will find the publication at hand a valuable source of information.
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Sedor | Sandford
Renal Genetics and Clinical Practice
Special Topic Issue: Nephron Physiology 2011, Vol. 118, No. 1
Online / Databases
11/2010
1st Edition
S. Karger
€59.50
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Content
Introduction; Renal Genetics and Clinical Practice: The Present and the Possible: Sandford, R.; Sedor, J.; Towards the Integration of Genetic Knowledge into Clinical Practice: Ong, A.C.M.; Devuyst, O.; Genetic Disorders of Glomerular Basement Membranes: Kashtan, C.E.; Segal, Y.; Genetics in Clinical Practice: Nephrotic and Proteinuric Syndromes: McCarthy, H.J.; Saleem, M.A.; Disorders of the Renal Proximal Tubule: Bokenkamp, A.; Ludwig, M.; Loop Disorders: Insights Derived from Defined Genotypes: Jeck, N.; Seyberth, H.W.; Genetic Disorders of NaCl Transport in the Distal Convoluted Tubule: Miller, R.T.; Disorders of Calcium Metabolism: O'Toole, J.F.; Disorders of Water and Acid-Base Homeostasis: Karet, F.E.; Practical Genetics for Autosomal Dominant Polycystic Kidney Disease: Pei, Y.; Mechanisms of Nephronophthisis and Related Ciliopathies: Hurd, T.W.; Hildebrandt, F.; Uromodulin-Associated Kidney Disease: Bleyer, A.J.; Zivna, M.; Kmoch, S.; Tuberous Sclerosis Complex Renal Disease: Dixon, B.P.; Hulbert, J.C.; Bissler, J.J.; Genetics of Familial Renal Cancers: Maher, E.R.; Haemolytic Uraemic Syndrome: Kavanagh, D.; Goodship, T.; Renal Stone Disease: Sayer, J.A.; Blood Pressure, Proteinuria and Nephropathy in Fabry Disease: Jain, G.; Warnock, D.G.; Genetic Variations and Transplant Outcomes: Kruger, B.; Schroppel, B.; Genetics of Chronic Kidney Disease: O'Seaghdha, C.M.; Fox, C.S.