Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Clinical lectures: Yr2 > Cystic Fibrosis > Flashcards

Cystic Fibrosis Flashcards

1
Q

What is cystic fibrosis (CF)?

A

Cystic fibrosis (CF) is an autosomal recessive multisystem disease, characterised by the build-up of mucus in the organs.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is the epidemiology of cystic fibrosis?

A

CF is the most common inherited fatal disease and is included in newborn screening. It is mostly diagnosed before 2 years old, but mild CF can present and be diagnosed in adolescence and adulthood.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the prevalence of cystic fibrosis among different ethnic groups?

A

CF is most prevalent in Caucasian individuals, especially those with Australian, North-European, or North-American ancestry. The prevalence from most to least is: Caucasian, black, Asian newborns.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is the pathophysiology of cystic fibrosis?

A

CF is caused by a mutation of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene on the long arm of chromosome 7, which codes for the CFTR protein.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the function of the CFTR protein?

A

The CFTR protein is a chloride ion channel in the epithelial membrane that maintains hydration levels, preventing mucus from becoming dehydrated.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is the most common mutation associated with cystic fibrosis?

A

The most common mutation is Delta F508/Phe508, which results in the absence of phenylamine amino acid at the 508 position.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are the consequences of the CFTR mutation?

A

The mutation codes for an abnormal CFTR protein that causes dehydrated mucus with high viscosity, obstructing multi-system glands and ducts.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are the respiratory manifestations of cystic fibrosis?

A

Respiratory manifestations include airway obstruction and impaired mucociliary transport, commonly presenting with chronic respiratory infections, which is a hallmark feature.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are common symptoms of cystic fibrosis in older children?

A

Common symptoms include persistent cough with sputum, haemoptysis (minor due to airway infection, major due to chronic lung damage), pneumothorax (collapsed lung), and nasal polyps.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What causes exocrine pancreatic insufficiency?

A

Blocked pancreatic ducts prevent enzyme secretion into the intestine.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is the hallmark feature of fat malabsorption?

A

Steatorrhea: large, foul-smelling stool with excess fat.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What deficiencies are associated with fat malabsorption?

A

Fat-soluble vitamin deficiency (A, D, E, K).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What are the consequences of protein malabsorption?

A

Hypoproteinemia and peripheral edema.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is meconium ileus?

A

Very thick meconium blocks the ileum in newborns.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What gastrointestinal condition is very common?

A

GERD (Gastroesophageal reflux disease).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is cholestatic jaundice?

A

A condition associated with liver and bile duct issues.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What bone condition is highly associated with this condition?

A

Osteoporosis.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What reproductive issue is common in males?

A

Congenital Bilateral Absence of Vas Deferens (CBAVD).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

How does CBAVD affect male fertility?

A

It obstructs the sperm canal, causing infertility, but sperm is still produced.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What reproductive issues are common in females?

A

Amenorrhoea or dysmenorrhoea due to malnutrition and chronic illness.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Can females with reproductive issues still conceive?

A

Yes, they can still conceive.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What is the treatment for infective manifestations in respiratory conditions?

A

Treated immediately with very high-dose antibiotics that can be administered PO (2 weeks-1 month), IV (2-3 weeks) or NEB, covering known organisms and Pseudomonas.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

How is Staphylococcus aureus infection treated in younger children?

A

Treated with flucloxacillin or co-amoxiclav.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What is the significance of the first growth in Pseudomonas aeruginosa infection?

A

First growth is most significant, treated with 3 weeks oral ciprofloxacin then 3 weeks NEB colomycin.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What characterizes Aspergillus fumigatus infection?

A

Acute fungal infection characterized by wheezing and can progress to Allergic Bronchopulmonary Aspergillosis (ABPA).

Treated with steroids and antifungals.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What is notable about Burkholderia infection?

A

Very hard to treat as it is highly transmissible.

27
Q

What is the treatment duration for Nontuberculous Mycobacterial infection?

A

18-24 month antibiotic course due to slow but detrimental growth.

28
Q

What is the impact of M. abscessus infection on lung transplant eligibility?

A

Patient no longer can receive lung transplant.

29
Q

How is cross-infection risk reduced in CF patients?

A

CF patients have inpatient and outpatient segregation with regular microbiology surveillance.

30
Q

What disorders are included in the newborn screen for CF?

A

The newborn screen is for 9 disorders: SCD, CF, congenital hypothyroidism, PKU, MCADD, maple syrup urine disease, isovaleric acidaemia, glutaric aciduria type 1, and homocystinuria.

31
Q

How is the blood spot sample collected for CF screening?

A

A blood sample is collected from pricking the baby’s heel and is screened for inherited conditions.

Performed when the baby is 5 days old.

32
Q

What does the Immunoreactive Trypsinogen (IRT) test measure?

A

The IRT test measures the level of IRT in the blood, which is an inactive precursor of trypsin.

33
Q

How does CF affect trypsinogen levels?

A

CF causes obstructed pancreatic ducts, preventing trypsinogen from reaching the small intestines and converting to trypsin, resulting in elevated IRT levels.

34
Q

What can also cause elevated IRT levels?

A

Elevated IRT levels can also be caused by chronic pancreatitis and pancreatic cancer.

35
Q

What is done if the IRT level is sufficiently high?

A

If the IRT level is sufficiently high, DNA testing is done to find CF mutations.

36
Q

What does the sweat test measure?

A

The sweat test measures the chloride level in a sweat sample.

37
Q

What chloride levels are considered diagnostic for CF?

A

An elevated chloride level is diagnostic for CF: Over 60 is abnormal, under 30 is normal.

38
Q

What does spirometry measure?

A

Spirometry measures the amount and/or speed of air that can be inhaled and exhaled.

39
Q

What are the typical findings of a chest X-ray in CF?

A

Chest X-ray has 4 typical findings: bronchiectasis, hyperinflation, collapse, and reticulonodular shadowing.

40
Q

Why is chest X-ray considered insensitive for early-stage CF?

A

Chest X-ray is insensitive as it is normal for early-stage CF (at birth) and only shows abnormalities in late-stage CF.

41
Q

What is the advantage of High-Resolution Computed Tomography (HRCT)?

A

HRCT is sensitive as it shows early local changes in the lungs.

42
Q

When is HRCT indicated?

A

HRCT is indicated for severe/unresponsive lung disease and nontuberculous mycobacterial lung disease due to its use of high-dose radiation.

43
Q

What is the primary aim of CF management?

A

To prevent/delay serious lung problems and to maintain lung function and clinical stability.

44
Q

Who are the members of the multidisciplinary team (MDT) in CF management?

A

CF consultants, clinical psychologists, physiotherapists, dieticians, pharmacists, and specialist nurses.

45
Q

What is the purpose of progressive chest physiotherapy?

A

Techniques for airway secretion clearance.

46
Q

At what age do patients start regular respiratory appointments?

A

From 5-6 years old.

47
Q

Who is offered a lung transplant?

A

Any patient with lung disease not caused by lung cancer.

48
Q

What is Dornase Alfa?

A

A recombinant human deoxyribonuclease (DNAse) used as a mucolytic agent, e.g., Pulmozyme.

49
Q

How does Dornase Alfa work?

A

It cleaves neutrophil derived DNA in mucus, causing the mucus to thin and allowing CF airway clearance.

50
Q

What is a mucolytic?

A

A drug that loosens/thins mucus.

51
Q

How is Dornase Alfa administered?

A

Inhaled with a nebulizer, a machine that turns liquid medicine into mist.

52
Q

What is the effect of Dornase Alfa on lung function?

A

It improves lung function regardless of severity, but long-term maintenance is needed as effects stop with treatment cessation.

53
Q

When is Dornase Alfa usually started?

A

When the child is 6 years old.

54
Q

What is hypertonic saline?

A

A concentrated sodium chloride solution.

55
Q

What is the function of hypertonic saline?

A

It acts as an expectorant, increasing bronchial secretions and promoting coughing.

56
Q

How does hypertonic saline work?

A

Sodium chloride settles on the airway surface layer and attracts water into CF airways, thinning mucus and promoting coughing out mucus.

57
Q

How is hypertonic saline administered?

A

Inhaled with a nebulizer.

58
Q

What is Pancreatic Enzyme Replacement Therapy (PERT)?

A

Lifelong treatment with creon microcapsules containing pancreatic enzymes.

59
Q

What supplementation do patients on PERT receive?

A

Vitamin A, D, E, and K supplementation.

60
Q

What is CFTR modulator therapy?

A

Small Molecular Interventions (SMIs) that target genotype-specific functional defects of the CFTR protein.

61
Q

What is Kaftrio?

A

A combination drug of tezacaftor, ivacaftor, and elexacaftor.

62
Q

What is the minimum age requirement for Kaftrio?

A

Patient must be over 2 years old.

63
Q

What are the mutation requirements for Kaftrio?

A

Patient must have either 2 copies of F508del mutation OR one F508del mutation and another mutation.

64
Q

What is the expected improvement in lung function for Kaftrio patients?

A

Patient must be expected to achieve over 10% improvement in lung function.

Clinical lectures: Yr2 (41 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions