By Richard P. Lifton, Stefan Somlo, Gerhard H. Giebisch, Donald W. Seldin
''A effective booklet like this for nephrology is lengthy late. The kidney, traditionally wealthy in its contribution to fashionable genetics, wishes an authoritative landmark for brand spanking new studying, realizing, and reference. Genetic ailments of the Kidney is entire, containing forty seven well-written chapters which are edited fantastically. Clinicians, trainees, and scientists will simply surprise at seeming complexity made really comprehensible. Written with readability and acumen through top gurus, it moves definitely the right stability among assessment and aspect. References to every bankruptcy were conscientiously chosen to mirror a filthy rich source for additional reading.''Eric G. Neilson, MD, Hugh Jackson Morgan Professor of medication, Vanderbilt college university of medication, Nashville, TN, USA'' The box of kidney illnesses has been fortunate to have Richard Lifton, one of many significant figures during this revolution, commit his energies to syndromes inflicting kidney failure and high blood pressure. His discoveries have energized the sphere, bringing into it many fascinating younger investigators the hot textbook Genetics ailments of the Kidney, edited by way of Lifton, Somlo Giebisch and Seldin, combines the services of genetics and body structure in an admirable demeanour. The chapters conceal many useful and theoretical parts: from simple ideas of genetic inheritance to distinct research of the numerous newly defined syndromes of genetic renal disorder. For the overall nephrologist or internist there's additionally a priceless bankruptcy on what's on hand this present day in genetic prognosis this could relief the clinician in checking out and making the precise analysis. The explosion of contemporary genetic details had made the final textbooks of genetic drugs particularly unwieldy however the ebook of this textbook is a welcome boost and fills a true desire. The identity of the functionality of such medically very important genes makes this e-book crucial not just for nephrologists yet for all scientists attracted to the constitution and serve as of the kidney.''--
Qais Al-Awqati, MB, ChB, Professor of drugs & body structure, Columbia college, university of Physicians & Surgeons, long island, USA''This multi-authored textbook, protecting just about all of the inherited issues of the kidney, is written by means of experts working within the entrance row of this fast paced examine box. i used to be really inspired with the large volume of literature coated in each bankruptcy of the ebook, reflecting the quick development during this quarter of medication. during this time of data overflow it's fairly worthwhile for busy clinicians to learn available experiences that summarize the mountain of articles now to be had on each topic, and supply the mandatory hyperlinks had to comprehend the larger photo. This booklet is a must-have for all of these all in favour of the basic in addition to the medical study on kidney illness in addition to medical professionals taking care of patients.''-- Prof.Dr. Martijn.H. Breuning, division of medical Genetics, heart for Human and medical Genetics, Leiden collage clinical heart, The Netherlands
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Extra info for Genetic Diseases of the Kidney
With the clinical application of pharmacogenomics, the era of ‘one size fits all’ for drugs and dosages promises to give way to personalized drug treatment, with improved efficacy and safety (Chung 2007). In the last several years, the US Food and Drug Administration (FDA) has approved several pharmacogenomic tests to guide individualized therapy. These tests detect variations in genes encoding hepatic enzymes involved in drug metabolism: cytochrome P450 CYP2C19 and CYP2D6 (Roche AmpliChip, http://www.
PHARMOCOGENOMICS Pharmacogenomics is the fusion of pharmacology and genomics, designed to elucidate how genetic variations affect the ways in which people respond to drugs. , single nucleotide polymorphisms (SNP), copy number variation (CNV)) can be assessed directly through genotyping or indirectly through protein, metabolite, or other biomarker assays (Swen et al 2007). Numerous recent studies demonstrate that genetic variation can modulate individual response to specific medications, as well as the susceptibility to drug toxicity (Evans &McLeod 2003, Phillips & Van Bebber 2004, Toffoli & Cecchin 2004, Sconce et al 2005, van den Akker-van Marle et al 2006).
J. Am. Coll. Cardiol. 2007; 50: 727–37. Rossetti S, Harris PC. Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease. J. Am. Soc. Nephrol. 2007; 18: 1374–80. Ruf R, Schultheiss M, Lichtenberger A, et al. Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome. Kidney Int. 2004a; 66: 564–70. Ruf RG, Lichtenberger A, Karle SM, et al. Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.