AUTOSOMAL-DOMINANT (ADULT) POLYCYSTIC KIDNEY DISEASE

Autosomal-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: 856