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2. Respiratory Medicine (Lectures) > Cystic Fibrosis 1 > Flashcards

Cystic Fibrosis 1 Flashcards

1
Q

What is the most common life shortening inherited disease in Northern Europeans?

A

Cystic fibrosis

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2
Q

What kind of inheritance does CF show?

A

Autosomal recessive

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3
Q

What is the gene prevalence of CF?

A

1:25

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4
Q

What is the disease prevalence of CF?

A

1:2500

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5
Q

Where does the CF gene lie?

A

Long arm of chromosome 7

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6
Q

What is the CF gene?

A

Cystic fibrosis transmembrane conductance regulator (CFTR)

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7
Q

How many known mutations are there of the CF gene?

A

>2000

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8
Q

How many mutations of the CF gene are CF disease associated?

A

About 30

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9
Q

What can different mutations result in?

A

Different phenotypes of the disease

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10
Q

How many classes of mutations are there?

A

6

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11
Q

What is the most common CF gene mutation?

A

phe508del ((DF508)

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12
Q

What is the class of mutation 1?

A

No synthesis

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13
Q

What is the class of mutation 2?

A

Block in processing

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14
Q

What is the class of mutation 3?

A

Block in regulation

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15
Q

What is the class of mutation 4?

A

Altered conductance

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16
Q

What is the class of mutation 5?

A

Reduced synthesis

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17
Q

What is the function of the cystic fibrosis transmembrane regulator (CFTR) gene?

A

Cilial collapse (regulates lipid volume on epithelial surface by reducing chloride and increasing sodium)

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18
Q

What does a mutation of the CFTR gene cause?

A

Excessive, innate inflammation

Thick, sticky mucus

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19
Q

What does collapsed cilia cause?

A

Traps organisms

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20
Q

What are the presenting features of CF?

A

Recurrent chest infection

Failure to thrive in children

Nasal polyps and sinusitis

Male infertility

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21
Q

What neonatal screening is done for CF?

A

New-born bloodspot day 5 (Guthrie test)

22
Q

What is the test called for screening CF?

A

Guthrie test

23
Q

What happens if the Guthrie test is positive?

A

Refered for clinical assessment and sweat test

24
Q

What is required to make the diagnosis of CF?

A

Clinical assessment

Sweat test

Repeat CF mutation analysis

25
Q

What are the possible diagnostic outcomes?

A

CF

Not CF

CF screen postive inconclusive diagnosis

26
Q

Why could a screen positive still be an inconclusive diagnosis?

A

Dependant on sweat test (normal)

27
Q

What is done following the identification of a CF patient who is going to become a parent?

A

Antenatal screening

28
Q

What antenatal screening is done for CF?

A

Pre-implantation genetic diagnosis

Chorionic villus sampling

Amniocentesis

29
Q

What does the management of CF involve?

A

Multi-organ disease

Specialist multi-disciplinary team

Share care with local clinics

Primary care

30
Q

What role does primary care have for CF?

A

Surveillance

Early treatment of infection

31
Q

What are cardinal features?

A

Major clinical symptoms

32
Q

What are major clinical symptoms called?

A

Cardinal features

33
Q

What are the 2 cardinal features of CF?

A

Pancreatic insufficiency (85-90%)

Recurrent bronchopulmonary infection

34
Q

What does pancreatic insuficiency cause?

A

Abnormal stools (pale or orange, very offensive and greasy)

Failure to thrive

35
Q

What are some consequences of recurrent bronchopulmonary infections?

A

Pneumonitis

Bronchiectasis

Scarring

Abscesses

36
Q

What does the treatment of pancreatic insuficiency involve?

A

Enteric coated enzyme pellets

High energy diet

Fat-soluble vitamin and mineral supplements

37
Q

What is the cycle of CF lung disease?

A

1) Mucus obstruction inflammation
2) Infection
3) Increased inflammation
4) Fibrosis/scarring/bronchiectasis

38
Q

What is mucus obstruction helped by?

A

Airway clearance physiotherapy

39
Q

What is infection helped by?

A

Antibiotics

40
Q

What is inflammation helped by?

A

Azithromycin

41
Q

What are common organisms in infections with CF?

A

Staph aureus and haemophilus influenza in early years

Pseudonomas aeruginosa in later years

42
Q

What are less common organisms with infections with CF?

A

Burkholderia cepacia

Stenotrophomonas maltophilia

MRSA

Atypical mycobacterium

Lung microbiome

43
Q

What can be done to try and prevent infections?

A

Eradication of early infections

Reduce inflammation

Suppress bacterial load of chronic infections

Annual influenza vaccine

Mucolytics

Airway clearance

Prophylactic against staph aureus

44
Q

What is mucolytics?

A

Medicine that makes mucus less thick

45
Q

What is medicine that makes mucus less thick called?

A

Mucolytics

46
Q

What medicines reduce inflammation?

A

Ibuprofen

Azithromycin

Prednisolone

47
Q

What treatment is currently being trialed?

A

CFTR modulator treatment which allows us to edit the gene

48
Q

What are some complications of CF?

A

Dysmotility

Hepatopathy

Upper airway popyps and sinusitis

Osteopenia

Arathropathy

Heat exhaustion

Bilateral absence of vas deferens

Vaginal candidiasis

49
Q

What social and economical impacts does CF have on the patient and their family?

A

Barriers to making friends as seen as different (drugs, missing school, cough, different diet)

Increased depression/anxiety

Low adherence to time consuming treatments

Siblings

Increased cost to family (time of work, financial benefits)

50
Q

What are the cornerstones of CF treatment?

A

Proactive treatment of airway infection

Good nutrition

Active lifestyle

51
Q

How has the prognosis for CF changed in the last few decades?

A

Massively improved

2. Respiratory Medicine (Lectures) (50 decks)

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