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Cystic fibrosis Flashcards

1
Q

What is cystic fibrosis?

A

A multi-system disease resulting in thick, sticky secretions throughout the body, therefore preventing the proper function of secretory organs

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2
Q

Is cystic fibrosis autosomal recessive or dominant?

A

Autosomal recessive

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3
Q

How many people carry the gene for cystic fibrosis?

A

1 in 25 people

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4
Q

What does CFTR stand for?

A

Cystic fibrosis Trans-membrane conductance Regulator

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5
Q

What is CFTR?

A

An ATP regulate Chloride channel, found on the luminal side of airways cells and secretory ducts

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6
Q

What is the normal function of the CFTR channel?

A

Activation of the CFTR channel has a stimulatory effect on another Cl- channel (ORCC) and has an inhibitory effect on a Na+ channel (ENAC)

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7
Q

How does cystic fibrosis cause thickened secretions?

A

Non-functional CFTR channels, mean that the Na+ channel (ENAC) allows a faster rate of Na+ influx
This decreases water potential in the cells, so water moves in down an osmotic gradient, therefore increasing the viscosity and stickiness of the secretions

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8
Q

What are the consequences of cystic fibrosis?

A

Salty sweat
Intestinal blockage
Fibrotic pancreas (Hence the name)
Failure to thrive
Recurrent bacterial infections
Congenital bilateral absence of the vas deferens
Chronic sinusitis
Gallbladder and liver disease
Pancreatic cysts
Steatorrhoea (Fatty stools)

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9
Q

What is a common consequence of cystic fibrosis in new borns?

A

Meconium ileus - Thick secretions can affect the babies meconium (first stool), making it thick and sticky and causing it to get trapped in the intestines

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10
Q

What causes steatorrhoea in cystic fibrosis?

A

The destruction of pancreatic tissue can lead to decreased pancreatic enzyme secretion
This causes fat malabsorption, leading to steatorrhoea

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11
Q

How many main classes of cystic fibrosis are there?

A

5

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12
Q

What occurs in class I CF?

A

A mutation leads to a complete loss of CFTR synthesis

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13
Q

What occurs in class II CF?

A

A mutation means that CFTR is produced, but in not fully the right shape, meaning it does not get released by the golgi apparatus

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14
Q

What occurs in class III CF?

A

The protein is released from the golgi apparatus and embeds in the membrane, but a mutation means that it does not interact with ATP, and so does not open to allow Cl- through

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15
Q

What occurs in class IV CF?

A

The protein embeds in the membrane and opens, but the channel is narrow so there is a decreased rate of Cl- influx

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16
Q

What occurs in class V CF?

A

A mutation causes a decreased rate of CFTR production, meaning there are too few CFTR proteins in the membrane, therefore decreasing the rate of Cl- influx

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17
Q

Who is usually tested due to suspicion of CF?

A

People under 40 with bronchiectasis, anyone with upper lobe bronchiectasis, anyone who is colonised with staphylococcus and those with infertility or azoospermia

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18
Q

What are some tests that can be carried out in cystic fibrosis?

A

Sweat testing to test for abnormally high Cl- levels in the sweat
Genetic testing
Heel prick testing in new borns, born after 2003

19
Q

What are the usual treatment options for those with CF, who are colonised by staphylococcus aureus?

A

Oral flucloxacillin
Oral co-trimoxazole (Septrin)

20
Q

What are some treatment options for those with CF, who are colonised by pseudomonas aeruginosa?

A

Oral azithromycin
Nebulised colomycin
Nebulised tobramycin
Nebulised aztreonam
Inhaled tobramycin
Maropanem
Cepacia
Temocillin

21
Q

How does cystic fibrosis cause digestive failure?

A

Exocrine failure can occur de to sludge deposition in ducts, leading to a failure to secrete lipases and amylases

22
Q

What is the treatment option for digestive failure in cystic fibrosis?

A

Creon - A pancreatic enzyme substitute

23
Q

How does cystic fibrosis cause endocrine failure?

A

CF can cause destruction of pancreatic islet cells and the fatty replacement of pancreatic tissue

24
Q

How is endocrine failure monitored and controlled in CF?

A

Annual Oral Glucose Tolerance Testing (OGTT) and constant glucose monitoring ensures proper regulation of blood glucose levels, with possible treatment with insulin if required

25
Q

How does cystic fibrosis cause Distal Intestinal Obstruction Syndrome (DIOS)?

A

Thick mucus can obstruct the large and small intestine, causing constipation

26
Q

What is the treatment for distal intestinal obstruction syndrome (DIOS) in CF?

A

Gastrograffin, Laxido and fluids

27
Q

What are some liver problems, common in CF?

A

Portal hypertension causing porto-systemic anastomoses, vatical bleeding and hepatic encephalopathy, due to the sludging up of liver ducts

28
Q

What are the treatment options of liver problems in CF?

A

Transjugular intrahepatic portosystemic shunt (TIPSS), in which an artificial channel is placed within the liver, that establishes communication between the inflow portal vein and outflow hepatic vein

29
Q

What are some examples of drugs that can thin the mucus in the body?

A

N-acetylcysteine
Dornase alfa

30
Q

How does N-acetylcysteine thin mucus secretions?

A

This cleaves the disulphide bonds in the mucus glycoproteins

31
Q

How does dornase alfa thin mucus secretions?

A

This is a nuclease that breaks up nucleic acids in mucus

32
Q

What type of mutation us the G551D mutation?

A

This is known as the Celtic gene and is a class III CFTR mutation

33
Q

What is a possible almost curative treatment option for someone with a G551D (Type III) mutation in CF?

A

Ivacaftor - This is a CFTR potentiator, meaning it opens up the CFTR channel, therefore allowing for Cl- inflow
This is highly effective but very expensive

34
Q

What type of mutation is the F508del mutation?

A

This is a class II mutation

35
Q

What are the 3 possible almost curative treatment options for F508del mutations?

A

Orkambi
Symkevi
Kaftrio

36
Q

What are the active ingredients of Orkambi?

A

Lumacaftor - Modifies protein shape in golgi
Ivakaftor - Opens up Cl- channel

37
Q

What are the active ingredients of Symkevi?

A

Tezakaftor - Modifies protein shape in golgi
Ivakaftor - Opens up Cl- channel

38
Q

What are the active ingredients of Kaftrio?

A

Elaxacaftor - Modifies protein shape in golgi
Tezacaftor - Modifies protein shape in golgi
Ivakaftor - Opens up Cl- channel

39
Q

Who can Symkevi be used in?

A

Those with an F508del mutation alongside a small range of other mutations

40
Q

Who can Kaftrio be used in?

A

Those with an F508del mutation alongside any other mutation

41
Q

What are some of the significant side effects of Kaftrio?

A

Deterioration of liver function
Acne

42
Q

What is the range of FEV1 values over which a person with CF is eligible for lung transplant?

A

Between 20% and 40%

43
Q

What bacterial infection means that a person cannot have a lung transplant in CF?

A

Patients with Mycobacterium Abscessus cannot have a transplant

44
Q

What causes the risk of renal failure in lung transplant?

A

Lung transplantation requires post transplant immunosuppression with tacrolimus, which is nephrotoxic

Respiratory (23 decks)

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