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Respiratory Unit > 8.2 Bronchiectasis And Cystic Fibrosis > Flashcards

8.2 Bronchiectasis And Cystic Fibrosis Flashcards

1
Q

How is cystic fibrosis inherited?

A

Autosomal Recessive

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2
Q

What causes cystic fibrosis?

A

mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Causes thickened secretions

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3
Q

What systems are most commonly affected in cystic fibrosis?

A 
Respiratory
Pancreas - malabsorption
Liver - biliary cirrhosis 
Sweat glands (heat shock) 
Vas deferents (infertility)
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4
Q

What is needed to diagnose CF?

A

One or more of the characteristic phenotypic features
o Or a history of CF in a sibling
o Or a positive new-born screening test result
And
o An increased sweat chloride concentration
o (> 60 mmol/l) – SWEAT TEST
o Or identification of two CF mutations – genotyping

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5
Q

What is meconium?

A

Dark green faecal material that accumulates in the faecal intestine and is discharged at or near the time of birth

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6
Q

What is meconium ileum?

A

Intestinal obstruction by sticky secretions in the newborn with cystic fibrosis due to trypsin deficiency

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7
Q

How commonly does meconium ileum happen in newborns with CF?

A

15-20%

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8
Q

What are signs of meconium ileum?

A

Bilious vomiting, abdominal distension, delay in passing meconium

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9
Q

How might CF present?

A 
Meconium ileum
Intestinal malabsorption
Recurrent chest infections
Newborn screening
Pseudomonas aeruginosa colonisation and infection
Cf associated diabetes mellitus
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10
Q

How common is intestinal malabsorption in CF?

A

Over 90% of CF individuals have intestinal malabsorption. In most this is evident in infancy.

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11
Q

What is the main cause of intestinal malabsorption in patients with CF?

A

Severe deficiency of pancreatic enzymes

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12
Q

How might patients with milder CF present and why?

A

With atypical symptoms as CFTR is faulty rather than entirely misfunctioning.
History of ‘asthma’ but dont respond to typical asthma management

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13
Q

What are features of CF?

A 
Chronic sinusitis 
Nasal polyps
Abnormal sweat secretions
Repeated LRTI/Bronchiectasis
Pancreatic insufficiency/diabetes 
Finger clubbing 
Osteoporosis
Male infertility
Arthritis 
Steatorrhoea
Liver disease/portal hypertension/gallstones 
Distal intestinal obstruction syndrome
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14
Q

What are common complications of CF?

A 
Respiratory infections
Low body weight
Distal intestinal obstruction syndrome 
CF related diabetes 
Bronchiectasis
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15
Q

How are respiratory infections in a patient with CF treated?

A

o Needs aggressive therapy with lung physio and
antibiotics
o Patients often receive prophylactic antibiotics to maintain health

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16
Q

How is low body weight in patients with CF treated?

A

o needs careful monitoring
o If it is the consequence of pancreatic insufficiency give pancreatic enzyme replacement therapy
o high calorie intake and often extra supplements
o may need NG or PEG feeding – especially in children with severe disease

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17
Q

What is DIOS?

A

Distal intestinal obstruction syndrome is faecal obstruction in the ileo-caecum due to thick dehydrated faeces. Presents with palpable right iliac fossa mass

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18
Q

How is DIOS different to constipation?

A

DIOS vs. constipation – faecal obstruction in ileo-

caecum versus whole bowel

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19
Q

What causes DIOS in CF patients?

A

insufficient prescription of pancreatic enzymes or non-compliance, also salt deficiency / hot weather

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20
Q

How is DIOS diagnosed?

A

Symptoms of obstruction, palpable Right Iliac Fossa
Mass, Abdominal XR demonstrating faecal loading
at junction of small and large bowel

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21
Q

What lifestyle advice should be given to patients with CF?

A

o No smoking
o Avoid other CF patients
o Avoid friends / relatives with colds / infections
o Avoid Jacuzzis (pseudomonas)
o Clean and dry nebulisers thoroughly
o Avoid stables, compost or rotting vegetation – risk of aspergillus fumigatus inhalation
o Annual influenza immunisation
o Ensure strep pneumo vaccination up to date
o Sodium chloride tablets in hot weather / vigorous
exercise

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22
Q

What is bronchiectasis?

A

Bronchiectasis is the chronic, irreversible dilatation of

one or more bronchi. Abnormally enlarged bronchi.

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23
Q

Why are patients with bronchiectasis predisposed to recurrent or chronic bacterial infection?

A

As bronchi are deformed, their ciliary function is impaired, they exhibit poor mucus clearance, stagnant pools of mucus predisposes for respiratory tract infection.

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24
Q

What is the gold standard diagnostic test for bronchiectasis?

A

High resolution CT

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25
Q

What are the main causes of bronchiectasis?

A 
Post infective
Immune deficiency
Genetic / mucociliary clearance defects
Obstruction
Toxic insult - gastric aspiration
Idiopathic
Allergic bronchopulmonary aspergillosis
26
Q

What is whooping cough?

A

An acute infection of the tracheobronchial tree by bordetella pertussis. Symptoms are runny nose and a violent cough

27
Q

What infections might result in bronchiectasis?

A

Whooping cough, TB

28
Q

What immune deficiencies cause bronchiectasis?

A

Hypogammaglobinaemia

Alpha-1-antitrypsin deficiency

29
Q

What are the genetic / mucociliary clearance defects that can cause bronchiectasis?

A 
CF
Primary ciliary dyskinesia
Youngs syndrome
Kartagener syndrome
Yellow nail syndrome
30
Q

What obstruction can cause bronchiectasis?

A

Foreign body, tumour, extrinsic lymph node.

31
Q

What organisms commonly are seen in patients with Bronchiectasis?

A 
Haemophilus influenzae 
Pseudomonas aeruginosa 
Moraxella catarrhalis 
Stenotrophomonas maltophilia 
Fungi – aspergillus, candida 
Non-tuberculous mycobacteria 
Less common - Staphylococcus aureus (think about CF)
32
Q

How is bronchiectasis managed?

A

Treat underlying cause
Physiotherapy to help mucus clearance
Antibiotics according to sputum cultures
Aggressive management of disease progression
Supportive - flu vaccine, strep pneumoniae vaccine, bronchodilators
Pulmonary Rehab – MRC Dyspnoea Score >3

33
Q

What is the aetiology of bronchiectasis?

A

Chronic inflammation -> destruction of elastic and muscular components of the bronchial wall and peribronchial fibrosis

34
Q

What is another name for pertussis?

A

Whooping cough

35
Q

What important question should be asked when suspecting bronchiectasis?

A

Travel history / where they have previously lived / childhood infections

TB and pertussis still common in some countries

36
Q

What is the main cause of bronchiectasis in th UK

A

Underlying congenital conditions

37
Q

How might a CXR look in bronchiectasis?

A

May appear normal in early disease. Progress to show:

Dilated bronchi with thickened walls

38
Q

What will a CT of bronchiectasis look like?

A

Bronchial dilation - bigger than the accompanying pulmonary artery
Bronchial wall thickening and scarring
Signet ring sign

39
Q

How is a CT scan used in bronchiectasis?

A

Diagnosis
Assess disease severity
Extent of lung involvement

40
Q

What is tram track sign?

A

A sign of bronchiectasis on an X-ray - thick walled dilated bronchi

41
Q

What is signet ring sign?

A

A sign of bronchiectasis on a CT scan
Dilated bronchus and accompanying pulmonary artery branch seen in cross section. Bronchus is dilated and appears wider than artery

42
Q

What are the clinical symptoms of bronchiectasis?

A 
Chronic cough 
Daily mucopurulent sputum production 
Halitosis Breathlessness on exertion
Intermittent haemoptysis
Nasal symptoms
Chest pain
Fatigue 
Wheeze
43
Q

What are the clinical signs of bronchiectasis?

A 
Pulse oximetry may reveal hypoxaemia 
Fever
Haemoptysis
Fine crackles/ High pitched inspirations squeaks /Rhonchi/ Crackles and wheezing (loud lungs)
Weight loss
Clubbing in digits
44
Q

What conditions does alpha-1-antitrypsin deficiency contribute to?

A

Bronchiectasis and emphysema

Loss of protein that protects against enzymes that break the elastic fibres in the lung

45
Q

What might bronchiectasis be misdiagnosed for?

A

Asthma

COPD

46
Q

How is bronchiectasis diagnosed?

A

High resolution CT
Sputum cultus testing positive for haemophilus, pseudomonas or atypical mycobacterium - unlikely to be COPD
History of chest infection

47
Q

Why is smoking history important to ask about to differentiate between COPD and Bronchiectasis?

A

Little history of smoking = bronchiectasis

48
Q

What might a spirometry test of a patient with bronchiectasis show?

A

Obstructive air ways disease FEV1/FVC of less than 70%
Elevation of RV/TLC due to air trapping behind pus obstruction
DLCO reduced in severe disease

49
Q

How is bronchiectasis differentiated from chronic bronchitis?

A

chronic bronchitis = smoking, white little sputum, cough, no fevers/haemoptysis, loss of lung sounds although may have some expiratory wheezing. Pathology is mucous gland over secretion/hyperplasia and airway remodelling.
Bronchiectasis = persistent severe infections, haemoptysis, fevers, thick purulent foul smelling sputum, halitosis, rhonchi and inspiratory squeaks pathology due to loss of smooth muscle and elastic fibres lining bronchi. Dilated deformed bronchi, ciliary dysfunction, stagnant mucous.

50
Q

How do we define exacerbation in bronchiectasis?

A 
Deterioration in 3 or more key symptoms for at least 48 hours:
Cough
Sputum volume or consistency
Sputum purulent even
Breathlessness / exercise tolerance
Fatigue
Haemoptysis
51
Q

What is the predominant mutation in CF?

A

Mutation in Phe508del - deletion of phenylalanine at position 508 of the polypeptide chain.

52
Q

Where is the gene for cystic fibrosis transmembrane conductance regulator located?

A

On the long arm of chromosome 7

53
Q

What is the function of CFTR?

A

Is an epithelium transmembrane protein that transports chloride and bicarbonate. CFTR also regulates the epithelial sodium channel and therefore movement of sodium into cells.
CFTR enables chloride to be transported out of cells into airways, controlling the water movement.

54
Q

What does a Phe508del CFTR protein mutation lead to?

A

defective intracellular processing and trafficking
decreased stability
defective channel gating

55
Q

How might CF present in a patient diagnosed after the age of 20?

A

usually have a mutation associated with residual CFTR function
Or heterozygous CFTR mutations – one severe + one mild

56
Q

What factors contribute to the impaired nutritional status of patients with CF?

A

Pancreatic insufficiency
Chronic malabsorption
Chronic inflammation leading to increased energy expenditure
Increased energy requirements of breathing
Suboptimal nutrient intake related to impaired taste (sinuses), fatigue
Inflammatory mediated anorexia

57
Q

Why should the nutritional status of a CF patient be a primary concern?

A
  1. Earliest manifestations of disease related to GI and nutritional derangement
  2. nutritional status plays an important role in the progression of the pulmonary disease – better nutritional status associated with better lung function. Appears to be related to preservation of muscle mass
  3. Suggestion that nutritional therapy supports lung growth and development
58
Q

Why are the 6 classes of CFTR mutations?

A
  • No protein production,
  • Protein made but never gets to the cell membrane,
  • Protein gets to the membrane but doesn’t work at all
  • Protein made but only partially active
  • Protein expressed at gene level but substantial reduction in mRNA or protein, or both, synthesis
  • Protein gets to membrane but partially unstable
59
Q

What is the only ‘cure’ for CF?

A

Lung transplant

60
Q

What is the median life expectancy for a person with CF?

A

38 years

Respiratory Unit (12 decks)

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