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Thread: some biochemistry factoids

  1. #1
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    Default some biochemistry factoids

    these are from a former med student who passed these notes onto some of his friend.

    17--hydroxylase deficiency:
    HTN, no puberty; hypokalemia, hypernatremia, alkalosis
    increase in LH and FSH, decreased 17-ketosteroids.
    Mech: steroid biosynthesis shunted towards 11-deoxycorticosterone and corticosterone  salt wasting
    Tx: sex steroids and glucocorticoids

    21--hydroxylase deficiency:
    female is virilized; hyperkalemia, hyponatremia
    increase in 17--progesterone
    Mech: steroid biosynthesis shunted towards testosterone  salt retention
    Tx: fludrocortisone / glucocorticoids

    11--hydroxylase deficiency:
    virilized female; salt retention
    Mech: 11-deoxycorticosterone synth. still possible. Shunting to testosterone.
    Tx: just glucocorticoids.

    • Bartter’s syndrome:
    HTN <vs. Conn’s> Weakness; hyponatremia <vs Conn’s>, hypokalemia, alkalosis
    Mech: sodium wasting nonresponsive to aldo
    hyperreninemia secondary to JGA hyperplasia and PG oversynthesis
    Tx: Indomethacin to inhibit prostaglandin synthesis

    Neuropathy, high-output heart failure.
    Mech: Thiamine deficiency. TPP required for -ketoglutarate dehydrogenase, pyruvate dehydrogenase
    Tx: Thiamine.

    Xanthomas on palms and tendons, yellow discoloration of palmar creases, EII/EII ApoE genotype
    Tx: low fat diet, gemfibrozil / niacin / statins

    Caused by a genetic defect that increases iron absorption in the intestine
    Associated with the triad of diabetes, hyperpigmentation, and jaundice [hepato, cardiotoxic]
    Increased serum ferritin and serum iron; decreased TIBC
    Associated with increase in cirrhosis and hepatocellular carcinoma
    Tx: phlebotomy

    • Lead poisoning
    Retardation, anemia (basophilic stippling of RBCs)
    Increased urinary excretion of ALA and coproporphyrin
    Fanconi syndrome – impaired PCT reabsorption of aa’s, phosphate, glucose
    Lead Line – deposition of lead sulfate on teeth
    Mech: lead inhibits ferrochetalase and aminolevulinic acid dehydratase, preventing heme synthesis
    Tx: BAL

    • Acute Intermittent Porphyria
    Accumulation of porphobilinogen and aminolevulinic acid in urine
    No light sensitivity (no synthesis of porphyrins to generate ROS) vs. all other porphyrias
    Autosomal dominant (like most porphyrias, except congenital erythopoetic porphyria)
    Mech: uroporphyrinogen I synthetase
    Tx: stay away from barbiturates and other P450 inducing drugs
    • Porphyria Cutanea Tarda
    Most common porphyria, can be induced by hexachlorobenzene exposure (Light sensitive)

    • Congenital Erythropoietic Porphyria
    The only autosomal recessive porphyria. (Light sensitive)

  2. #2
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    nice poster

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