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Respiratory > Cystic Fibrosis > Flashcards

Cystic Fibrosis Flashcards

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
Q

what are many of the treatments for CF

A

preventative treatment

26
Q

how is CF prophylactically managed

A

antibiotics, treatment for pancreas (excrine and endocrine), bowls and liver as well as regular clinic review

27
Q

what happens during exocrine failure in the pancreas

A

ducts sludged up, failure of secretion of lipases, amylase; digestive failure

28
Q

how is exocrine failure treated, how does it work and why is it not effective

A

creon- allows patient to absorb energy, patient avoid taking it to lose weight

29
Q

describe endocrine failure in the pancreas

A

destruction of pancreatic islet cells, fatty replacement of pancreatic tisse, leads to diabetes

30
Q

how is endocrine failure in the pancreas treated

A

annual oral glucose tolerance test, diabetes treated with CGMs and insulin

31
Q

what is a common bowl problem in CF and what causes it and its symptoms

A

distal intestinal obstruction syndrome (DIOS) thick mucus blocks the large and small intestine, similar symptoms to constipation

32
Q

how is dios treated

A

gastrograffin, laxido, fluids

33
Q

how is dios prevented

A

laxido, hydration, keep moving

34
Q

how is the liver usually affected in CF

A

sludging up of hepatic ducts (inta and extrahepatic), portal hypertension (anastamoses, variceal bleeding, hepatic encephalopathy)

35
Q

what treatment is used to treat liver problems in CF

A

TIPPS

36
Q

how are exacerbations managed

A

in hospital for two weeks antibiotics, physiotherapy (autogenic drainage), adequate hydration, increased dietary input

37
Q

why are two antibiotics always used in CF

A

reduce resistance

38
Q

what oral antibiotics are used in CF

A

augmentin, fluclox, minocycline, septrin, fusidin, ciprofloxacin

39
Q

what IV antibiotics are used to treat pseudomonas infections in CF

A

tazocin, ceftazidime, tobramicin, meropenem, colistin

40
Q

what IV antibiotics are used to treat staph. Aureus infections in CF

A

flucloxacillin, tigecycline

41
Q

what IV antibiotics are used to treat cepacia infections in CF

A

temocillin

42
Q

what severity of CF does the G551D lead to

A

moderatly severe

43
Q

what class of mutation is the G551D gene

A

class III

44
Q

what is the phenotype of the G551D mutation

A

normal CFTR, delivered to epithelium normally, non functioning channel

45
Q

how is the G551D treated

A

open channel, Ivacaftor- improves chloride flow

46
Q

what is the downside of ivacaftor

A

very expensve

47
Q

in recessive disorders like CF do you need to treat both mutations or just one

A

just one

48
Q

what are the methods in which a gene can be treated

A

direct effects on proteins, post-translational modification, increased transcription, gene replacement

49
Q

how is a F508 delta mutation treated

A

lumacaftor- binds to CFTR changes its shape so it can pass through golgi- very expensive £200,000 per annum

Respiratory (26 decks)

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