Clinical Conditions Flashcards
Amyloidosis
misfolding of proteins making them insoluble (normally soluble)
effects dependent on location (brain -> alzheimers/dementia)
Sickle Cell Anaemia
Autosomal Recessive (Glutamate (hydrophilic) -> Valine (hydrophobic))
Hydrophobic know which joins to natural hydrophobic pocket when Hb in T state. Polymerised Hb adopts a sickle shape.
Blocks microvasculature causing a crisis (pain and ischaemia)
Made worse by anything that reduces O2 availability eg smoking, obesity, cold, infection etc
Cystic Fibrosis
Defective CFTR (CF Transmembrane Regulator) gene. Impaired ability to transport Na+ and Cl-. Water wont move out by osmosis, thus thick sticky mucus is produced
Gout
sodium urate crystals
usually in the big toe and comes on suddenly
Psoriasis
long-term auto immune condition
scaly red patches of skin due to increased proliferation of skin cells
Cystic Fibrosis
CFTR mutation so the transporter doesn’t work
Cl- wont move out so H20 wont move out
you get very thick mucus
Diarrhoea
lots of chloride ions move out
and lots of water follows which is excreted in the poo
Myasthenia Gravis
autoimmune disease targeting nACh receptors
profound weakness in skeletal muscles
Osteoporosis
mineralised bone is decreased, not enough mechanical support
leads to weakened bones and increased fractures
Osteogenesis Imperfecta
abnormal type 1 collagen
bones break easily and reform strangely
blue sclera
Scurvy
vitamin C needed for prolyl hydroxylase enzyme
no hydroxylation of lysine and proline so a weaker triple helix
bleeding from gums
Ehlers - Danlos Syndrome
abnormal collagen, CT has more elastic fibres
stretchy skin, double jointedness, hypermobility
Ischaemia
Na/K ATPase doesnt work so Na accumulates in cells
deplarises the cell as the NCX stops working
Ca moves in which is toxic to the cell
Type 2 Diabetes
give sulfonurea
binds and shuts K channel, insulin levels go back up
(wont work for T1 as they have no Beta cells)
Multiple Sclerosis
affects all the myelination of the nerves in the CNS
vision problems
tingling numbness