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6 Cards in this Set

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PKD
Polycystic kidney disease.
Enlargement with hundreds to thousands of cysts, and renal failure in 5th decade.
Occurs in 1/800
85-90% are mutations in PKD1
10-15% are mutation in PKD2
Accounts for 10% end-stage renal disease
Nephrotic Syndrome
Proteinuria > 3.5 g/day

Increased glomerular capillary permeability and podocyte process effacement
Often presents with hypoalbuminemia
Alport's Syndrome
Irregular basement membrane thickness, fails as filter.
Presents with hematuria progressing to glomerulonephritis
85% X-linked mutation of COL4A5 (encodes type IV collagen)

1-2% of end-stage renal disease
Fanconi's Syndrome
Acidosis
Oseomalacia
Glucosuria
Hypokalemia
Impaired ability of PT to reabsorb HCO3-, AA, glucose, and low MW proteins.
Proteinuria (most common causes)
Filtration w incomple reab

TAL cells produce and secrete Tamm-Horsfall glycoprotein
Bartter's Syndrome
Hypokalemia, metabolic acidosis, and hyperaldosteronism.
Inact mutation is NKCC2, ROMK, or ClCNKB decrease TAL reab of Na and K. ECF decreases, stimulation aldosterone -- NaCl reab in DT and CD.