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RM - Resp Conditions Profiles > Cystic Fibrosis > Flashcards

Cystic Fibrosis Flashcards

1
Q

Is CF autosomal dominant or recessive?

A

Recessive

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2
Q

What is the carrier rate for CF?

A

1 in 25

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3
Q

Where is the CF gene located?

A

Long arm of chromosome 7

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4
Q

What does a mutation in the CF gene cause (on a cellular level)

A

Abnormalities in the production of the CFTR protein

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5
Q

What does the CFTR protein stand for?

A

Cystic fibrosis Transmembrane Conductance Regulator

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6
Q

What kind of channel is CFTR and where is it located?

A

Chloride channel

Apical membrane of epithelial cells

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7
Q

What is the most common mutation of the CF gene?

A

F508 del

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8
Q

The CFTR channel stimulates the ____ channel, which facilitates __ ____.

A

ORCC

Cl- efflux

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9
Q

The CFTR channel inhibits the ____ channel, which facilitates __ _____ .

A

ENAC

Na+ infflux

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10
Q

Currently, how are people diagnosed with CF?

A

Heel prick test in new borns

Measures the immunoreactive trypsinogen

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11
Q

If a CF patient is not picked up via the heel-prick test, what are the 3 ways in which they can be diagnosed?

A

History of common clinical features
CFTR functional testing
Genetic testing

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12
Q

What is the CFTR functional test used in CF diagnosis?

A

Sweat test - pilocarpine iontophoresis

Measures the Cl- conc in sweat - raised in CF

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13
Q

What are the 3 managements for the pulmonary disease caused by CF?

A

Airway clearance techniques (such as physio)
Nebulised therapy
Anti-inflammatories

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14
Q

What are the 2 nebulised therapies for CF and what do they do?

A

Hypertonic saline - draws water out into mucus

Mannitol - increased mucociliary clearance

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15
Q

What is the common anti-inflammatory given to CF patients?

A

Azithromycin

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16
Q

What is the prophylactic management of CT?

A

Antibiotics

17
Q

Why does CF result in digestive failure?

A

The pancreas is unable to secrete lipase and amylase

18
Q

What is the treatment for exocrine failure of the pancreas in CF?

A

CREON

19
Q

What are the 2 components of the endocrine dysfunction in CF?

A

Islet cell destruction

Fatty replacement of pancreatic tissue

20
Q

Ultimately, what does pancreatic dysfunction in CF patients cause?

A

Diabetes

21
Q

What is the common bowel side effect of CF?

A

Distal intestinal obstruction syndrome

22
Q

How is Distal Intestinal Obstruction Syndrome caused?

A

Thick mucus blocks the small and large intestine

23
Q

What can distal intestinal obstruction syndrome present like?

A

Constipation

24
Q

What are the 3 treatments for distal intestinal obstruction syndrome?

A

Gastrogaffin (laxative)
Laxido
Fluids

25
Q

What are the 3 components of prevention of distal intestinal obstruction syndrome?

A

Laxido
Hydration
Exercise

26
Q

What is the main hepatic consequence of CF and why does it occur?

A

Portal hypertension

Due sticky bile clogging the bile ducts

27
Q

What are the 2 complications of CF induced portal hypertension?

A

Variceal bleeding

Hepatic encephalopathy

28
Q

What treatment can be done for the CF induced portal hypertension?

A

TIPSS

29
Q

What is the positive and negative of doing a TIPSS in a CF patient?

A

Reduces bleeding risk, but increases encephalopathy risk

30
Q

What symptom is very common in CF patients with hepatic problems?

A

Steatorrhoea

31
Q

Why do you always treat CF exacerbations with 2 antibiotics?

A

To reduce resistance

32
Q

What antibiotic treatment is often offered to CF patients with infective exacerbations?

A

OHPAT - out patient and home parenteral antibiotic treatment

33
Q

How long is spent in hospital and how long is spent at home in OHPAT?

A

2 weeks in hospital, 2 weeks at home

34
Q

What are the 4 components to treatment of a CF exacerbation?

A

Antibiotics (always 2)
Physiotherapy
Adequate hydration
Increased dietary input

35
Q

What is the new drug that can improve CFTR function?

A

Ivacafor

36
Q

What kind of CF patients does ivacafor work in?

A

Those with a G551D mutation

37
Q

What is the disadvantage of Ivacafor?

A

Very expensive

RM - Resp Conditions Profiles (8 decks)

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