Renal Genetics and Clinical Practice —— Special Topic Issue: Nephron Physiology 2011, Vol. 118, No. 1

----- 肾脏遗传学与临床实践

ISBN: 9783805596473 出版年：2010 页码：50 S.Karger

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.