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8 Cards in this Set
- Front
- Back
Lesch-Nyhan syndrome
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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
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Cystinuria
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Hereditary defect (AR) of renal tubular amino acid transporter for cysteine, ornithine, lysine, and arginine in PCT. Leads to precipitation of cystine kidney stones.
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Actions of ALDOSTERONE
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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)
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Actions of PTH
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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.
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Actions of ATII
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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
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Actions of ANP
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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
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Actions of CORTISOL
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1. Anti-inflammatory
2. Increase gluconeogenesis, lipolysis, and proteolysis 3. Decrease immune function 4. Maintain blood pressure 5. Decrease bone formation |
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von Hippel-Lindau syndrome
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(AD) Cavernous hemangiomas in cerebellum and retina. Increased incidence of pheochromocytoma and bilateral renal cell carcinomas
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