Cystic fibrosis Flashcards

1
Q

what is cystic fibrosis

A

an autosomal inherited recessive trait caused by a mutant form of the CFTR gene

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2
Q

what does the non mutant form of the transmembrane protein do

A

controls the chloride balance in cells lining the lungs and the digestive system by channeling the chloride ions in and out

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3
Q

if both parents are carriers of the CF gene what are the chances that they will have a child that is affected

A

1 in 4

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4
Q

what does CFTCR stand for

A

Cystic fibrosis transmembrane conductance regulator

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5
Q

what is the normal function of Cystic fibrosis transmembrane conductance regulator

A

active transport channel for chloride

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6
Q

cilia functions abnormally in CF why

A

This cleansing action of the cilia is impaired in CF because of the presence of very sticky mucus and dry airways

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7
Q

describe neonatal screening for CF

A

heelprick test day 5

screens for immuno-reactive trypsinogen in blood

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8
Q

if the presence of immuno-reactive trypsinogen is high what is the next step

A

mutation analysis performed

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9
Q

if a newborn has undergone screening for mutation analysis and screened positive, what would you do next

A

refer for a sweat test to test for cl in sweat

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10
Q

a false positive result can be obtained for sweat cl tests why

A

sweat cl is naturally high in newborns and gradually levels out

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11
Q

is there any benefit associated with screening and CF prognosis

A

there is a nutritional benefit from screening

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12
Q

what level of chloride in sweat is indicative of CF

A

> 60

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13
Q

what care teams are involved in managing cystic fibrosis

A

specialist multi-disciplinary team

primary care to give early treatment of infections and keep monitored

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14
Q

what are the 2 cardinal features of CF

A
pancreatic insufficiency(85-90%)
Failure to thrive
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15
Q

describe the pancreatic insufficiency CF patients experience

A

Abnormal stools as failure of fat absorption

failure to thrive as they may have deficiencies of fat soluble vitamins

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16
Q

what is the treatment of pancreatic insufficiency in CF patients

A

enteric coated enzyme pellets
high energy diet
fat-soluble vitamin and mineral supplements
H2 antagonist

17
Q

what are H2 antagonists

A

class of drugs that help reduce stomach acid. They are prescribed for CF patients in an effort to create a more alkaline environment so the pancreatic enzymes can do their job. They can help break up clumps of undigested food that lead to distal intestinal obstruction.

18
Q

in terms of infection what are CF patients prone to

A

recurrent bronchopulmonary infection ( esp stap aures )

19
Q

what can be done to prevent patients with CF getting respiratory infections

A
segregation to prevent cross infection
airway clearance 
mucolytics
prophylactic antibiotics
annual flu vac
20
Q

what are common respiratory pathogens to patients with CF

A

Staphylococcus aureus and Haemophilus influenzae in early years
Pseudomonas aeruginosa later

21
Q

what are other health complications that patients with CF can experience (7)

A
GI dysmotility
co-existent disease ( e.g Crohn's and coeliac)
hepatopathy
diabetes
bone problems
heat exhaustion 
upper airway polyps and sinusitis
22
Q

what are urology related health problems a CF patient can experience

A

Bilateral absence of vas deferens

Vaginal candidiasis; stress incontinence