Eponymous Syndromes

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Author:
grignoter
ID:
162676
Filename:
Eponymous Syndromes
Updated:
2012-07-16 17:39:03
Tags:
eponymous syndromes medicine
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Description:
Eponymous Syndromes
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  1. Bartter Syndrome
    • Autosomal recessive
    • mutation in NaKCl symport in ascending loop of Henle
    • symptoms as though on a permenant loop diuretic - low K, dehydration?
  2. Gitelman Syndrome
    • mutation in NaCl channel in distal convoluted tubule
    • symptoms as though on a permanent thiazide - low K, dehydration?
  3. Wilson's Disease
    • Normal Copper Absorption
    • 1. CMT1 (copper membrane transporter) allows Cu into GI cells
    • 2. ATP7A (enzyme) releases copper from GI cells into the portal circulation
    • 3. ATP7B links copper to ceruloplasmin and secretes excess into bile 

    • Mutation in ATP7B therefore:
    • 1. Copper not bound to ceruloplasmin 
    • 2. Excess copper not excreted 

    • low ceruloplasmin, high free copper, high urinary copper 
    • * Liver disease
    • * Neuropsychiatric symptoms
    • * Kayser-Fleischer rings/sunflower cataracts
    • * renal tubular acidosis (calcium accumulation in kidneys
    • * cardiomyopathy, arrhythmias
    • * low PTH, infertility

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