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8 Cards in this Set

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Lesch-Nyhan syndrome
Defective purine salvage owing to absence of HGPRT (converts hypoxanthine to IMP and guanine to GMP). Results in excess uric acid productions. Findings: retardation, self-mutilation, aggression, hyperuricemia, gout, choreoathetosis
Cystinuria
Hereditary defect (AR) of renal tubular amino acid transporter for cysteine, ornithine, lysine, and arginine in PCT. Leads to precipitation of cystine kidney stones.
Actions of ALDOSTERONE
1) increases Na+-H+ transporters in DCT and collecting tubes - increase Na+ absorption 2) increase K+ secretion 3) Increase renal H+ secretion (alpha-intercalated cells)
Actions of PTH
1) Increase bone reabsorption 2) Decrease phosphate reabsorption at PCT 3) Increase Ca+/Na+ exchange in distal tubule 4) Increase intestinal Ca++ absorption indirectly by stimulation prod of 1,25 OH Vit D.
Actions of ATII
1) Increase BP by acting on AT II receptors on vascular SM 2) Constrict efferent arterioles of glomerulus 3) Increase aldosterone prod. 4) Increase prox. tubule Na+/H+ activity 5) Increase ADH secretion. 6) Stimulate hypothalamus --> thirst
Actions of ANP
1) relax vascular SM 2) Increase excretion of Na+ and H20 in kidney by increasing GFR and Na+ filtration w/ no compensatory Na+ reabsorption in distal nephron
Actions of CORTISOL
1. Anti-inflammatory
2. Increase gluconeogenesis, lipolysis, and proteolysis
3. Decrease immune function
4. Maintain blood pressure
5. Decrease bone formation
von Hippel-Lindau syndrome
(AD) Cavernous hemangiomas in cerebellum and retina. Increased incidence of pheochromocytoma and bilateral renal cell carcinomas