Bronchiectasis/CF Flashcards

1
Q

What are the baseline bloods for bronchiectasis investigation?

A

alpha1 antitripysin, aspergillus IgG and IgE, total IgE and IgG, IgG subclasses, serum electrophoresis, ANA, ANCA, anti-parietal ab, RF, MPO, PR3

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2
Q

What are the most common gene mutations in CF?

A

F508del (most common)
G551D
W1282X
G542X
N1303K

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3
Q

What is a class 1 and 2 CFTR gene mutation mean?

A

reduction in the quantity of expressed CFTR protein

Class 1- nonsense and frame-shift mutations, as well as mRNA splicing defects eg G542X

Class 2- folding or maturation defects, which can result in premature CFTR degradation eg F508del

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4
Q

What does class 3 and 4 gene mutations mean?

A

aberrant channel function rather than reduced quantities of CFTR

Class 3- limited channel gating that arises from ineffectual binding of nucleotide eg G551D

Class 4- able to open and close. However, Cl- and HCO3 ions are unable to freely pass

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5
Q

What does Class 5 gene mutation in CF mean? and the novel Class 6?

A

Class 5- normal CFTR, a limitation of transcriptional regulation results in a reduced quantity of the protein being produced

Class 6- high turnover of CFTR at the channel surface

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6
Q

Which class of gene reduces function of CFTR at the cell surface?

A

class 3 and 4

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7
Q

which class of gene reduces the quantity of CFTR at the cell surface?

A

class 1, 2, 5 and 6

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8
Q

What do CF modulators target?

A

potentiators- work in class 3. Ivacaftor specifically targets G551D, but also works in homozygous F508del
correctors- work in class 2 eg. tezacaftor and elexacaftor both work on F508del
premature stop codon suppressors or read-through agents- work in Class 1 (ataluren and gent)

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9
Q

what is the sweat test cut off for CF?

A

60 mmol/L

40-60 is intermediate

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10
Q

Where can I look up whether a CFTR mutation gene causes CF?

A

CFTR2 database

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11
Q

What are the three subspecies of m. Absessus?

A

Absessus, bolletii and massilisence. Massilisence has the worst prognosis

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12
Q

How does ceftrio affect the eyes?

A

Increase lens opacity- increased cataract

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13
Q

How is the liver affected in CF?

A

The cholangiocytes have CFTR in the membranes

Biliary: Lead to stones, dyskinesia, malignancy

Liver: portalHTN cirrhosis

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14
Q

What is special about CF gut?

A

Nothing. It is the same as IBD gut. And the management is as such

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15
Q

If sweat test is equivocal what can we do to diagnose?

A

A PD- give amiloride followed by isoprenaline and something else and the chloride increases if not CF otherwise it stays down

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