Physiology Flashcards
Pathogenesis and clinical findings of Dysbetalipoproteinemia (type III)
Defective ApoE. ↑ Chylomicrons, VLDL. Premature atherosclerosis, tuberoeruptive and palmar xanthomas.
pathogenesis and clinical findings of familial hyperchylomicronemia
Defective Apo CII or Lipoprot Lipase
⬆️ Chylomicrons/ TG/ Cholesterol
Pancreatitis common, no ⬆️ Risk of atherosclerosis
Pathogenesis and clinical findings of Hypertriglyceridemia (type IV)
Hepatic overproductionof VLDL. ↑ TG and VLDL. Hypertrigliceridemia >1000mg/dl, acute pancreatitis, insulin resistance
Pathogenesis and clinical findings of Familial hypercholesterolemia
Defective LDL receptor or Apo B100.
⬆️ Total chilesterol/ LDL >300 or > 700 in homozygous
May be Myocardial infarction in Age of 20’s.
Tendon achiles xanthomas and corneal arcus.
Adverse effect of hypothyroidism on lipid regulation
↓ Expression of LDL receptors and ↓ expression of lipoprotein lipase
Clinical findings of Niemann-Pick disease
Deficient enzyem: sphingomyelinase. ↑ Sphingomyelin. CNS neurodegeneration, cherry-red spot on macula, 2° thrombocytopenia, foam cells, hepatosplenomegaly.
Clinical findings of homocystinuria
Ectopial lentis (down and in), intellectual disability, thromboembolic occlusion, osteoporosis, Marfanoid habitus.
Pathogenesis and treatment of homocystinuria
Cystathionine synthase deficiency. Tx: avoid methionine, supplement with cysteine and B6.
Clinical findings of Maple syrup urine disease
At first days of life: poor feeding, urine smells like burnt sugar, hypertonia, lethargy.
Disease that causes ↑ alfa ketoacids in the blood (isoleucine, leucine, valine)
Maple syrup urine disease. Must be supplemented with Thiamine
Main substances that leads to ↑ insulin in response of oral and IV glucose
Incretins, like GLP-1 and GIP
Clinical findings of Primary adrenal insufficiency
Preexisting history of autoimmune disease, hypovolemia (due to salt wasting), orthostasis, hypoglycemia, normo anemia and eosinophilia.
Lab findings at PAI
↓ Cortisol ↓ Glucose ↓ Na ↑ K ↑ urinary Na ↓ urinary K
Pathway on the ATP production during intense exercise
<10 sec: phosphocreatine shuttle
10-60 sec: anaerobic glycolysis
>60 sec: oxidative phosporylation
Sites with rich smooth endoplasmic reticulum
Liver hepatocytes and steroid hormone-producing cells of the adrenal cortex and gonads