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.
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Sommario
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Genetic Abnormalities of Renal Development and Morphogenesis | 363 |
Inherited Neoplastic Diseases Affecting the Kidney | 495 |
Systemic Diseases with Renal Involvement Monogenic Disorders | 543 |
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abnormalities acidosis activity aldosterone allele amino acids apical AQP2 associated autosomal dominant autosomal recessive Bartter’s syndrome basement membrane basolateral bicarbonate Biol 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 expression extracellular factor Fanconi syndrome Figure function gene Genet genome Gitelman’s glomerular glomerulus glucose HCO3 heterozygous human hypercalcemia hypertension hypomagnesemia identified increased inherited inhibition interaction Kidney Int kinase linkage magnesium mesenchyme metabolic mice missense molecular mouse muta mutations Nephrol nephronophthisis nephropathy nephrotic syndrome normal NPHP pathway patients Pax2 Pediatr phenotype phosphorylation Physiol PKD1 PKD2 PKHD1 plasma podocin podocyte polycystic kidney disease potassium protein proteinuria 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