Genetic Diseases of the KidneyRichard P. Lifton, Stefan Somlo, Gerhard H. Giebisch, Donald W. Seldin Academic Press, 25 feb 2009 - 848 pagine 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) |
Sommario
| 37 | |
Genetic Abnormalities of Renal Development and Morphogenesis | 363 |
Inherited Neoplastic Diseases Affecting the Kidney | 495 |
Systemic Diseases with Renal Involvement Monogenic Disorders | 543 |
Altre edizioni - Visualizza tutto
Parole e frasi comuni
abnormalities acidosis activity aldosterone allele amino acids apical AQP2 associated autosomal dominant autosomal recessive Bartter's syndrome basement membrane basolateral bicarbonate Biol Ca2+ calcium cause cells channel Chem chloride chromosome cilia Clin clinical collecting duct cotransporter cystic cystinuria cysts defect Dent's disease disorder distal domain effect ENaC encoding epithelial excretion exons expression extracellular factor Fanconi syndrome Figure function gene Genet genome Gitelman's glomerular glomerulus glucose heterozygous homozygous human hypercalcemia hypertension hypomagnesemia identified increased inherited inhibition interaction Kidney Int kinase linkage magnesium metabolic mice missense molecular mouse muta mutations Nephrol nephron nephronophthisis nephropathy nephrotic syndrome normal NPHP pathway patients Pax2 Pediatr phenotype phosphorylation Physiol plasma podocin podocyte polycystic kidney disease potassium protein proximal tubule reabsorption receptor regulation renal failure renal tubular role segment serum sodium studies TBMN tion transcription transport TSC1 TSC2 tumor urate ureteric bud urinary Wilms WNK4 X-linked