MEH Flashcards
microcytic anaemia causes
TAILS
Thalassaemia- mutation in globin genes (alpha or beta globin)
Anaemia of chronic disease- increased hepcidin leads to functional iron deficiency
Iron deficiency- normocytic in early stages then microcytic due to abnormal haem synthesis and insufficient haemoglobin synthesis
Lead poisoning
Sideroblastic anaemia- inherited defect in haem synthesis
vit B12 absorption
- forms complex with HAPTOCORRINS
- pancreatic proteases digest complex, releasing B12 which binds to INTRINSIC FACTOR
- once internalised, B12 forms complex with transcobalamin II and is released into bloodstream as complex
storage occurs in the liver, lack of intrinsic factor causes pernicious anaemia
cell signalling control of insulin release
Increase in extracellular [glucose] causes it to move through glut 2 transporters into beta cells, more ATP produced, binds to K+ ATPase and inhibits K+ exiting cell, depolarises membrane activating VG Ca2+ channels, Ca2+ moves into cell causing vesicles containing insulin to fuse with outer membrane
homocystinuria
issue breaking down METHIONINE
defect in CRYSTATHIONINE BETA SYNTHASE
treatment= low methionine diet (avoid meat, fish, eggs, cheese) also cysteine vit B12, betaine and folate supplements taken (cysteine not produced by crystathionine)
affects CVS, CNS, muscles, connective tissues
Phenylketonuria
presence of phenylketones in urine- lack of phenylalanine hydroxylase
phenylalanine accumulates in blood, instead transaminated to phenylpyruvate and phenylketones are produced
symptoms= intellectual disability, developmental delay, seizures, microcephaly. Treatment= low protein, avoid artificial sweeteners, tyrosine supplementation
Adrenal gland layers
Go Find Rex, Make Good Sex
layers= Glomerulosa, Fasciculata, Reticularis
produces… Mineralocorticoids, Glucocorticoids, Sex hormones (androgens)
Paracetamol overdose
excess paracetamol causes production of toxic metabolite NAPQI
NAPQI causes direct toxicity to liver cells and depletes glutathione levels (glutathione conjugates NAPQI) causing oxidative damage to hepatocytes
Acetylcysteine= antidote- replenishes glutathione levels
key regulators of gluconeogenesis
PEPCK and fructose 1,6 bisphosphatase
activated by cortisol/glucagon, inhibited by insulin
activated by fasting/starvation, prolonged exercise, stress
signs associated w/ anaemia
abnormal facial bone structure- thalassaemia koilonychia (spoon shaped nails)- iron deficiency angular stomatitis (inflammation of corners of mouth)- iron deficiency glossitis (inflammation+ depapillation of the tongue)- vit B12 deficiency
causes of macrocytic anaemia
FAT RBC
Foetus- increased folate requirements during pregnancy
Alcohol- toxicity towards bone marrow + likely secondary B12/folate deficiency
hypoThyroidism- low thyroid hormones affect hormones involved in erythropoiesis
Reticulocytosis- secondary to blood loss, reticulocyte larger than RBC
B12/Folate- deficiency/pernicious, thymidine deficiency, uracil used, constant DNA repair, nucleus never matures
Cirrhosis/chronic liver disease