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AUTOSOMAL-DOMINANT (ADULT) POLYCYSTIC KIDNEY DISEASEAutosomal-dominant (adult) polycystic kidney disease (ADPKD) is a hereditary disorder characterized by multiple expanding cysts of both kidneys that ultimately destroy the renal parenchyma and cause renal failure.[10] It is a common condition affecting roughly 1 of every 400 to 1000 live births and accounting for about 5% to 10% of cases of chronic renal failure requiring transplantation or dialysis. The pattern of inheritance is autosomal dominant, with high penetrance. The disease is universally bilateral; reported unilateral cases probably represent multicystic dysplasia. The cysts initially involve only portions of the nephrons, so renal function is retained until about the fourth or fifth decade of life. ADPKD is genetically Figure 20-6Renal dysplasia. A, Gross appearance. B, Histologic section showing disorganized architecture, dilated tubules with cuffs of primitive stroma, and an island of cartilage (H&E stain). (A, courtesy of Dr. D. Schofield, Children's Hospital, Los Angeles, CA; B, courtesy of Dr. Laura Finn, Children's Hospital, Seattle, WA.) Figure 20-7Possible mechanisms of cyst formation in polycystic kidney disease (see text). Figure 20-8 A and B, Autosomal-dominant adult polycystic kidney disease (ADPKD) viewed from the external surface and bisected. The kidney is markedly enlarged with numerous dilated cysts. C, Autosomal-recessive childhood polycystic kidney disease, showing smaller cysts and dilated channels at right angles to the cortical surface. D, Liver with cysts in adult PKD. Figure 20-9Uremic medullary cystic disease. Cut section of kidney showing cysts at the corticomedullary junction and in the medulla. TABLE 20-3-- Glomerular Diseases Primary Glomerulopathies Acute diffuse proliferative glomerulonephritis ••Poststreptococcal ••Non-poststreptococcal Rapidly progressive (crescentic) glomerulonephritis Membranous glomerulopathy Minimal change disease Focal segmental glomerulosclerosis Membranoproliferative glomerulonephritis IgA nephropathy Chronic glomerulonephritis Systemic Diseases with Glomerular Involvement Systemic lupus erythematosus Diabetes mellitus Amyloidosis Goodpasture syndrome Microscopic polyarteritis/polyangiitis Wegener granulomatosis Henoch-Schönlein purpura Bacterial endocarditis Hereditary Disorders Alport syndrome Thin basement membrane disease Fabry disease TABLE 20-4-- The Glomerular Syndromes Acute nephritic syndrome • Hematuria, azotemia, variable proteinuria, oliguria, edema, and hypertension Rapidly progressive glomerulonephritis • Acute nephritis, proteinuria, and acute renal failure Nephrotic syndrome • >3.5 gm proteinuria, hypoalbuminemia, hyperlipidemia, lipiduria Chronic renal failure • Azotemia Õ uremia progressing for years Asymptomatic hematuria or proteinuria • Glomerular hematuria; subnephrotic proteinuria Date: 2016-04-22; view: 857
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