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Paediatrics > Cystic Fibrosis > Flashcards

Cystic Fibrosis Flashcards

1
Q

cystic fibrosis cause?

which gene mutated

A

delta f508 mutated (80% of cases) on CFTR gene of chromosome 7

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2
Q

what is CFTR?

A

Cl- channel

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3
Q

CFTR stands for what?

A

cystic fibrosis transmembrane regulator gene

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4
Q

cystic fibrosis mode of inheritance?

A

Autosomal recessive

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5
Q

Pathophys of cystic fibrosis?

step by step

A

CFTR shape is malformed > Cl- can not pass through CFTR channel > Cl- cannot get int lung mucus (or any secretion really) > water does not follow > mucus becomes very thick

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6
Q

If Cl- can not move what other electrolytes can not move into skin?

A

Na+

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7
Q

Lung mucus very thick, what will this cause?

-2

A

breathing is difficult + infections

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8
Q

recurrent lung infections will eventually cause what complication?

A

bronchiectasis

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9
Q

Lung mucus very thick, what can happen to pulmonary vasculature blood pressure?

A

pulmonary HTN

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10
Q

pulmonary HTN will lead to what eventually?

A

cor pulmonale

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11
Q

in cystic fibrosis what happens to pancreas?

A

Pancreas secretion are very thick

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12
Q

Pancreas secretion are very thick, effect of this?

A

thick secretions block exocrine enzyme leaving pancreas > malabsorption

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13
Q

what happens at the liver in CF?

A

Bile very thick > bile ducts blocked

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14
Q

blocked bile ducts will cause what complications?

-2

A

liver fibrosis

cirrhosis

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15
Q

liver fibrosis eventually leads to what?

A

Portal HTN

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16
Q

what happens to sweat in CF?

A

sweat is high in chloride

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17
Q

why is there high Cl- sweat in CF?

A

CFTR not functioning > ions from sweats ducts can not be resorbed > instead Cl- in sweat ducts gets trapped and then pumped into skin

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18
Q

what CF problem happens to men specifically?

why?

A

Male infertility

do not have vas deferens

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19
Q

why do men not have vas deferens?

A

when in womb the thick mucus blocks vas deferens being made

20
Q

vas deferens not being made is called what medically?

A

vas deferens agenesis

21
Q

what CF problem happens to women specifically?

why?

A

female subfertility

mucus in cervix way too thick

22
Q

Thick mucus in sinus will cause a lot of what?

-1

A

infections (easily infected)

23
Q

recurrent sinus infections will cause what in the sinuses to be formed?

A

nasal polyps

24
Q

how many CF pts are diagnosed over 18?

A

5%

25
Q

when are most CF pts diagnosed?

A

as babies

26
Q

which organisms which may colonise CF patients lungs?

-4

A

Staphylococcus aureus
Pseudomonas aeruginosa
Burkholderia cepacia
Aspergillus

27
Q

features (signs and symptoms) of CF?

A

Lots of chest infections
Malabsorption (30%): steatorrhoea, failure to thrive

Foul smelling stool 
Short stature
Diabetes mellitus 
Delayed puberty – can’t get fat 
Rectales prolapse (due to bulky stools) 
Nasal polyps 
Male infertility
Female subfertility 
Liver disease
28
Q 
why is there:
Foul smelling stool 
Short stature
Diabetes mellitus 
Delayed puberty – can’t get fat 
??
A

No pancreas enzymes

29
Q

which test can you use to diagnose CF antenatally?

A

chorionic villus sampling or amniocentesis

30
Q

which test is used to diagnose CF neonatally?

A

Guthrie heel-prick test

31
Q

which test is used to diagnose CF in children?

A

sweat test

32
Q

suspected CF neonate will have what test?

this test is looking for what?

A

Guthrie heel-prick test

serum immunoreactive trypsinogen (IRT)

33
Q

suspected CF child will have what test?

this test is looking for what?

A

Sweat Test

high Cl- in sweat

34
Q

normal Cl- levels in sweat?

A

< 40 mEq/l

35
Q

abnormal Cl- levels in sweat?

A

> 60 mEq/l

36
Q

if CF confirmed in child what test do you do with family?

what mutation are you looking for?

A

Gene test pt/relatives/partners

Δ-F508 - (this is most common mutation)

37
Q

why do CF pts have skin oedema?

A

Hypoalbuminaemia

38
Q

skin oedema can cause what problems when Ix CF?

A

False negative sweat test

39
Q

what IX can you consider?

and why/ what are you looking for?
-6

A

Spirometry – <0.7 obstructive

Sputum sample – do if infected or want to check if pt been colonised

Faecal elastase – pancreatic insufficiency

CXR – check bronchiectasis

CT scans – signet rings + tram tracks (diagnostic for bronchiectasis and Gold.S)

LFTs – check liver health

40
Q

how do you manage the mucusy lungs?

-3

A

chest physiotherapy + postural drainage 2x a day

deep breathing is good
acute breathing

exacerbation – salbutamol

41
Q

how do you manage the lack of pancreas enzymes/ malabsorption?
-4

A

Eat lots of calories

Eat lots of fat

Take vitamins supplement (ADEK)

Take pancreatic enzyme supplements (pancreatin)

42
Q

how do you manage increased risk of infections in CF patients?
-3

A

CF people ought not meet other CF people – risk of cross infection

Extra vaccine doses

Prophylactic antibiotics given sometimes

43
Q

Last line Mx for CF?

A

lung transplant

44
Q

what drugs can be used to specifically target the CFTR protein?
-2

A

Lumacaftor

Ivacaftor

45
Q

what drugs can be used to specifically target the CFTR protein?
-2 named e.g.

how does each work?

A

Lumacaftor - ↑number of CFTR protein transported into cell surface

Ivacaftor - lets CFTR open and allow Cl- in

46
Q

most CF pts die at what age?

A

40

47
Q

CFTR gene located on which chromosome?

A

chromosome 7

Paediatrics (30 decks)

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