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Clinical Cases

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CHEM 4465
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Clinical Cases Dr. Faller – Sickle Cell Anemia I. PRESENTATION a. Around 6-7 months b. Symptoms: i. Rapid breathing, heart rate, murmur ii. Enlarged spleen iii. Dactylitis (enlarged hands and feet) c. To diagnose: take blood sample, remove O2, see if there is sickling II. GENETICS/BIOCHEMISTRY a. 1 copy of gene – protects from malaria (sickle cell endemic wherever malaria present) b. 2 copies of gene – disease: i. Single base mutatation - 6 Glu becomes Val ii. Patients have 22 and 2 2 III. PATHOPHYSIOLOGY a. Tetramers aggregate and form elongated tubes b. Polymerization occurs when Hb in deoxy form - changes shape of cell to sickle shape c. Cell can reoxygenate and revert back to normal shape for a few cycles, but after a while too much membrane damage – can no longer oxidize – starts to deform d. Components of disease: i. Vasoocclusion: sickle cells can get through vessel and build up (also build up in other structures) ii. RBCs finally burst (hemolysis) after sickling and release chemicals 1. nitric oxide – changes in vessel tone –affects ability to relax 2. damage to endothelial tissues e. Sickling enhanced by i. Hypoxia – decreases O2 availability ii. Stasis – increases o2 extraction in tissues iii. RBCs release more O2 (disease propagates itself) IV. THERAPIES a. Pain medication (morphine), hydration, oxygen (never been shown it actually helps) b. Try to relieve dactylitis c. Prophylactic antibiotics – to replace spleen’s job of clearing bacterial infections i. Daily penicillin ii. Vaccines – but not good response without spleen iii. Rapid cultures and treatment for infections d. Folic acid – RBCs unstable and break down – require folic acid to make new ones e. Hydroxyurea – chemo drug f. *α-amino butyric acid (first observed in patients with diabetic mothers) - transcriptionally reactivates fetal hemoglobin – only need about 20% fetal Hb to ameliorate all complications – any amount to extend life span Dr. Nunes – Bilirubin Metabolism I. BILIRUBIN METABOLISM – see Offner notes II. HYPERBILIRUBINEMIAS a. Pre-hepatic – increased BR production – doesn’t have to do with liver i. Hemolysis (incr RBC destruction) – increased production of BR 1. excess unconjugated BR 2. no BR in urine 3. increased urobilinogen (if BR makes it to liver is conjugated normally) ii. ineffective erythropoesis b. Hepatic – metabolic abnormalities i. Problems with conjugation (Gilbert’s, Crigler-Najjar): 1. normal BR production but failure to conjugate  increased unconj BR in blood(poss. jaundice) 2. no increase in urobilinogen 3. no BR in urine ii. Other causes of poor conjugation 1. Hepatitis – due to direct hepatic injury – viral or autoimmune 2. Drug-induced causes of liver injury 3. Cirrhosis – liver failure c. Post-hepatic i. Obstruction of bile flow: gallstones, structure of bile duct, pancreatic cancer, bile duct cancer, surgical injury ii. Normal production of BR, but can’t be excreted: 1. conj BR found in blood 2. incr BR excretion by kidneys (BR in blood - dark urine), 3. pale stools (no BR in stool) III. DIAGNOSING TYPE OF HYPERBILIRUBINEMIA a. Levels of BR in blood i. Excess unconjugated BR – prehepatic (just more BR) or hepatic (can’t conjugate) ii. Conj
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