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Heart, Lungs and Blood > cystic fibrosis > Flashcards

cystic fibrosis Flashcards

1
Q

what is the most inherited genetic condition in the uk

A

cystic fibrosis

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2
Q

What is CF?

A

CF is an autosomal recessive condition

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3
Q

Which organ systems are affected by CF?

A

The respiratory system, gastrointestinal system, skin, and reproductive system are affected by CF.

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4
Q

What are the respiratory symptoms of CF?

A

Bronchiectasis, recurrent respiratory infections, and respiratory failure are the respiratory symptoms of CF.

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5
Q

What are the gastrointestinal symptoms of CF?

A

Pancreatic insufficiency and diabetes mellitus are the gastrointestinal symptoms of CF.

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6
Q

What is a skin symptom of CF?

A

Increased sweat is a skin symptom of CF.

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7
Q

What is a reproductive symptom of CF?

A

Infertility is a reproductive symptom of CF.

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8
Q

how does CF affect the lungs

A

Cf gene causes a defective protein
decreased chloride secretion
sticky mucous
airway obstruction, infection inflammation

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9
Q

how does CF affect the pancreas

A

sticky secretion
blockage of ducts
failure to deliver digestive enzymes

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10
Q

How does CF affect the intestine

A

sticky secretions
obstruction

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11
Q

How does CF affect the skin

A

CFTR not working so then chloride builds up in sweat
high chloride in CF on sweat test

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12
Q

What is the cause of Cystic Fibrosis (CF)?

A

CF is caused by mutations on the gene on chromosome 7, resulting in a defect of the CFTR protein.

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13
Q

What is the function of CFTR protein?

A

CFTR protein sits in the membrane of epithelial cells and regulates the transport of chloride ions through activation of (CAMP) and through calcium-activated chloride channels. It also inhibits the transport of sodium through the sodium channels in the epithelial cell membrane and regulates the movement of bicarbonate ions.

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14
Q

What are the consequences of CFTR protein defects in CF?

A

Defects in CFTR protein result in a malfunctioning chloride transport system, leading to a buildup of thick, sticky mucus in various organs, particularly in the respiratory and digestive systems. This can cause recurrent infections, bronchiectasis, respiratory failure, pancreatic insufficiency, and other symptoms of CF.

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15
Q

What are features of faulty CFTR protein

A

faulty CFR affects chloride channel
chloride builds up in cell
negative charge attracts sodium into cell
which move with water
mucous becomes dry and thick
impairment of muco-ciliary escalator

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16
Q

what is a class 1 CFTR mutation

A

no CFTR

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17
Q

Where does a class 1 CFTR mutation stem from

A

gene transcription
it is not transcribed
in the nucleus

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18
Q

What is a class 2 CFTR mutation

A

misfolding of CFTR

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18
Q

What is a class 3 CFTR mutation

A

CFTR poor function

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19
Q

Where does a class 2 CFTR mutation stem from

A

protein translation and processing in the gogli and endoplasmic reticulum

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20
Q

Where does a class 3 CFTR mutation stem from

A

protein trafficking

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21
Q

what is a class 4 CFTR mutation

A

CFTR ion channel faulty

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22
Q

Where does a class 4 CFTR mutation stem from

A

protein insertion in the cell membrane

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23
Q

What happens to the CFTR protein when it’s abnormal?

A

Abnormal CFTR protein results in decreased chloride reabsorption and increased sodium reabsorption.

24
Q

What is the impact of decreased chloride reabsorption on secretions?

A

Secretions have a very high viscosity and reduced water content.

25
Q

Why does this affect mucociliary clearance in the bronchi?

A

This impedes mucociliary clearance in the bronchi so respiratory secretions are stagnant.

26
Q

What is the effect of stagnant respiratory secretions?

A

Decreased defence from respiratory infections.

27
Q

What are the methods used for the diagnosis of CF?

A

The diagnosis of CF is made through genetic testing, sweat test and imaging studies (such as chest X-rays and CT scans).

28
Q

What is a sweat test in CF?

A

The sweat test is the most common diagnostic test for CF and measures the salt concentration in sweat.

29
Q

What are the symptoms of CF affecting the upper respiratory tract?

A

Chronic sinus disease and nasal polyps are the symptoms of CF affecting the upper respiratory tract.

30
Q

What are the symptoms of CF affecting the lower respiratory tract?

A

Chronic cough and sputum, bronchiectasis (dilated and inflamed bronchi), chronic suppurative lung disease (lots of pus), colonization with bacteria, frequent respiratory infections, and clubbing are the symptoms of CF affecting the lower respiratory tract.

31
Q

What are the organisms commonly found in CF patients?

A

Staphylococcus aureus, Haemophilus influenzae, Pseudomonas aeruginosa (Gram –ve), Burkholderia cepacia (Gram –ve) are the organisms commonly found in CF patients.

32
Q

What is the problem with these organisms in CF?

A

These organisms are difficult to eradicate and lead to colonization in CF patients.

33
Q

How does chest X-ray appear in CF patients?

A

Chest X-ray in CF patients is very abnormal and shows signs of bronchiectasis.

34
Q

How does defective CFTR affect the pancreas?

A

Defective CFTR leads to abnormal chloride transport in the pancreas, resulting in destruction of the pancreas and exocrine insufficiency.

35
Q

What are the common symptoms of fat malabsorption in CF patients?

A

Steatorrhoea, lack of fat-soluble vitamins, and failure to thrive in children are common symptoms of fat malabsorption in CF patients.

36
Q

Can CF cause diabetes mellitus?

A

Yes, failure of endocrine pancreatic function can lead to diabetes mellitus in CF patients.

37
Q

Can CF cause liver cirrhosis?

A

Yes, liver cirrhosis can occur in CF patients.

38
Q

What are the common presentations of CF in newborns?

A

Meconium ileus, failure to thrive, and recurrent respiratory infections are common presentations of CF in newborns.

39
Q

Can CF affect fertility in males?

A

Yes, CF can cause azoospermia and sub-fertility in males.

40
Q

What are the psychological and social impacts of CF?

A

The psychological and social impacts of CF can include depression, anxiety, and reduced quality of life.

41
Q

What are the options for carrier testing for CF during pregnancy?

A

Antenatal carrier testing and genetic counselling are options for CF during pregnancy.

42
Q

What are the options for prenatal screening for CF?

A

DNA analysis on a sample of chorionic villus and amniocentesis are options for prenatal screening for CF.

43
Q

What is the neonatal screening test for CF?

A

The Guthrie test and sweat test are neonatal screening tests for CF.

44
Q

What are the clinical presentations that suggest CF?

A

Recurrent respiratory infections, meconium ileus, and failure to thrive are clinical presentations that suggest CF.

45
Q

What is the normal range for chloride content in sweat test for CF?

A

Chloride content greater than 60 mmol/L is considered abnormal in the sweat test for CF.

46
Q

What is the significance of abnormal potential difference across the nasal epithelium in CF?

A

Abnormal potential difference across the nasal epithelium is a diagnostic test for CF.

47
Q

What is DNA analysis used for in diagnosing CF?

A

DNA analysis is used for genotyping for common mutations in diagnosing CF.

48
Q

What is typically found in a chest x-ray for someone with CF?

A

Chest x-rays for someone with CF are typically abnormal.

49
Q

What is the management for patients with CF?

A

The management for patients with CF includes specialist center care with a multi-disciplinary team consisting of doctors, CF nurse specialists, physiotherapists, occupational therapists, dieticians, psychologists, and support for family. There is also support available through the CF Trust.

50
Q

How is respiratory disease in CF treated?

A

Treatment of respiratory disease in CF includes prompt antibiotics for respiratory infections, intense chest physiotherapy, nebulized DNAse to degrade high concentrations of DNA in secretions, mucolytic drugs, bronchodilators, long-term oxygen therapy, and lung or heart and lung transplantation.

51
Q

How is pancreatic disease in CF managed?

A

Management of pancreatic disease in CF includes exocrine treatment with Creon (pancreatic enzymes), multivitamins, and nutritional support through enteral feeding. Endocrine treatment for diabetes includes insulin.

52
Q

what are the new potential approaches for treatment of CF

A

gene therapy
RNA correction
CFTR modulation

53
Q

what does gene therapy target

A

DNA

54
Q

what does RNA correction target

A

RNA

55
Q

what does CFTR modulation target

A

protein

56
Q

What is Kaftrio used for in CF management?

A

Kaftrio is a triple therapy for CF management, used to impact the production and function of CFTR protein. It improves symptoms, lung function, and survival.

57
Q

What does Kaftrio therapy improve in CF patients?

A

Kaftrio therapy improves symptoms, lung function, and survival in CF patients.

Heart, Lungs and Blood (51 decks)

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