Genetic renal disease

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Abstract

Many genetic renal disease now have specific genetic definitions, allowing prognostication. Several glomerular basement membrane defets include Alport's syndrome and benign familial hematurias. Genetic tubular or interstitial structural defects likely include familial juvenile nephronophthisis, as well as the polycystic diseases. Herediatry metabolic diseases can result in storage processes and circulating lipid disorders, which result in progressive glomerular sclerosis. Hereditary metabolic errors result in products causing obstruction and interstitial damage. Other hereditary disorders cause hemodynamic process that result in renal damage. The vascular structural defects of Marfan syndrome, Alagille syndrome, neurofibromatosis, and Cockayne's syndrome can secondarily result in renal vascular destruction. An awareness of these hereditary disease pathways to renal disease is essential to primary care pediatrics.

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