Cystic Fibrosis Flashcards

(49 cards)

1
Q

what type of genetic disorder is CF

A

autosomal recessive

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2
Q

how many people are carriers

A

one in 25

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3
Q

describe CF trans-membrane conductance regulators

A

chloride channels ATP regulators

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4
Q

describe the role of trans-membrane conductance regulators

A

transport of chloride, sodium and water in and out of cell

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5
Q

what does a defect in the TMCR mean on a cellular level

A

sodium channels defective so suck in sodium and water back into the cells

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6
Q

what are the resulting consequences of a TMCR gene mutation

A

altered secretions, blocked ducts, impaired mucosal defence, infection, inflammation, cystic fibrosis

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7
Q

what are the clinical presentations of a defective CFTR

A

CYSTIC FIBROSIS OF THE PANCREAS salty sweaty, intestinal blockage, fibrotic pancreas, failure to thrive, recurrent bacterial lung infections, congenital bilateral absence of vas deferens, filled sinuses, gallbladder and liver disease

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8
Q

What are the reasons behind the clinical presentations of CF

A

infection/ inflammation because of blocked ducts

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9
Q

what class of CFTR defect is the most severe

A

class 1- many die in utero

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10
Q

what is the biochemical phenotype of a class 1 CFTR defect

A

no CFTR synthesis

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11
Q

what is the biochemical phenotype of a class 2 CFTR defect

A

CFTR trafficking defect (delta F508)

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12
Q

how can patients with class 2 defect survive

A

as golgi helps to stop some defect genes

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13
Q

what is the biochemical phenotype of a class 3 CFTR defect

A

dysregulation of CFTR- diminished ATP binding and hydrolysis, protiens cant get through membrane

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14
Q

how severe is a class three CFTR defect

A

mild forms

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15
Q

what is the biochemical phenotype of a class 4 CFTR defect

A

defective chloride conductance or channel gating, proteins embedded in membrane

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16
Q

how severe is a class 4 CFTR defect

A

milder than class three

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17
Q

what is the biochemical phenotype of a class 5 CFTR defect

A

reduced CFTR transcription and synthesis, dont make enough protein, normal function but at reduced level

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18
Q

what are the five types of mutations

A

missense, deletion, premature stop, deletion (frameshift)

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19
Q

name two mutations that affect the CF gene working correctly

A

delta F508, G551D

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20
Q

in a recessive disease, are the mutations on each gene the same

A

no can be different

21
Q

patients with what conditions get tested for CF and sweat testing

A

bronchiectasis under 40, upper lobe bronchiectasis, colonisation with Staph, infertility, low weight

22
Q

why do some people not get diagnosed until adulthood

A

don’t present, lack of continuity of care, present sporadically or out of hours, don’t think about it

23
Q

what is upper lobe bronchiectasis

A

dilated bronchi and thickening of bronchi walls in upper lobes of the lung

24
Q

what are the difficulties of CF

A

treatment burden and complications can be rapid in onset

25
what are many of the treatments for CF
preventative treatment
26
how is CF prophylactically managed
antibiotics, treatment for pancreas (excrine and endocrine), bowls and liver as well as regular clinic review
27
what happens during exocrine failure in the pancreas
ducts sludged up, failure of secretion of lipases, amylase; digestive failure
28
how is exocrine failure treated, how does it work and why is it not effective
creon- allows patient to absorb energy, patient avoid taking it to lose weight
29
describe endocrine failure in the pancreas
destruction of pancreatic islet cells, fatty replacement of pancreatic tisse, leads to diabetes
30
how is endocrine failure in the pancreas treated
annual oral glucose tolerance test, diabetes treated with CGMs and insulin
31
what is a common bowl problem in CF and what causes it and its symptoms
distal intestinal obstruction syndrome (DIOS) thick mucus blocks the large and small intestine, similar symptoms to constipation
32
how is dios treated
gastrograffin, laxido, fluids
33
how is dios prevented
laxido, hydration, keep moving
34
how is the liver usually affected in CF
sludging up of hepatic ducts (inta and extrahepatic), portal hypertension (anastamoses, variceal bleeding, hepatic encephalopathy)
35
what treatment is used to treat liver problems in CF
TIPPS
36
how are exacerbations managed
in hospital for two weeks antibiotics, physiotherapy (autogenic drainage), adequate hydration, increased dietary input
37
why are two antibiotics always used in CF
reduce resistance
38
what oral antibiotics are used in CF
augmentin, fluclox, minocycline, septrin, fusidin, ciprofloxacin
39
what IV antibiotics are used to treat pseudomonas infections in CF
tazocin, ceftazidime, tobramicin, meropenem, colistin
40
what IV antibiotics are used to treat staph. Aureus infections in CF
flucloxacillin, tigecycline
41
what IV antibiotics are used to treat cepacia infections in CF
temocillin
42
what severity of CF does the G551D lead to
moderatly severe
43
what class of mutation is the G551D gene
class III
44
what is the phenotype of the G551D mutation
normal CFTR, delivered to epithelium normally, non functioning channel
45
how is the G551D treated
open channel, Ivacaftor- improves chloride flow
46
what is the downside of ivacaftor
very expensve
47
in recessive disorders like CF do you need to treat both mutations or just one
just one
48
what are the methods in which a gene can be treated
direct effects on proteins, post-translational modification, increased transcription, gene replacement
49
how is a F508 delta mutation treated
lumacaftor- binds to CFTR changes its shape so it can pass through golgi- very expensive £200,000 per annum