Bronchiestasis, CF, Pneumonia

Question 1

What is bronchiectasis?

Answer 1

Disease with chronic and irreversible dilation of 1 or more bronchi so lungs cannot expel air properly. Inflammation permanently destroys elastic-like tissues and muscles surrounding bronchi.

Airflow obstruction and impaired clearance of secretions

Question 2

What can bronchiectasis result in?

Answer 2

Poor mucus clearance so predisposition to bacteria

Question 3

What can be seen on a chest scan for bronchiectasis?

Answer 3

• Dilated airways - Bronchus smaller than artery - Signet ring sign

Question 4

Around 1/3 of cases of bronchiestasis in adults are associated with a severe lung infection in childhood. What are these childhood infections?

Answer 4

1. Whooping cough 2. TB 3. Measles 4. Severe pneumonia

Question 5

Some cases of bronchiestasis occur due to immunodeficiency. What are these immunodeficiencies?

Answer 5

1. Common variable hypogammaglobulinaemia 2. Late onset idiopathic Ig deficiency 3. Selective immunoglobulin deficiency Immunodeficiency can be acquired after HIV

Question 6

Some people with bronchiestasis develop ABPA. What is ABPA?

Answer 6

A complication of an allergic condition. People with ABPA have an allergy to a type of fungi known as aspergillus. If they breathe in fungal spores, it can trigger allergic reaction and persistent inflammation, which can progress to bronchiestasis

Question 7

How can CF lead to bronchiestasis?

Answer 7

Mucus becomes clogged in lungs which is ideal environment for bacterial infection, leading to bronchiestasis

Question 8

What is primary ciliary dyskinaesia (Kartagener’s)? How can it lead to bronchiestasis?

Answer 8

Problem with cilia due to inheriting faulty gene –> defective clearance of mucus

Question 9

How can aspiration lead to bronchiestasis?

Answer 9

Stomach contents accidentally passes into lungs instead of down gastrointestinal tract –> inflammation and infection

Question 10

What are the conditions that cause inflammation in other areas of the body that can be associated with bronchiestasis?

Answer 10

1. Rheumatoid arthritis 2. Sjogren’s syndrome 3. Crohn’s disease 4. Ulcerative colitis 5. IBD 6. Coeliacs 7. Yellow nail syndrome 8. Alpha 1 antitrypsin deficiency

Question 11

What are symptoms of bronchiestasis?

Answer 11

• Persistent purulent sputum (non smokers) - Haemoptysis - Breathless - Wheeze - Sinusitis and nasal symptoms - Weight loss - Pleurisy - Nasal polyps

Question 12

What clinical signs are likely to be present on examination of bronchiestasis?

Answer 12

• Clubbing - Coarse crackles - Wheeze - None

Question 13

What is clubbing?

Answer 13

Tissue at base of the nails is thickened and the normal angle between the base and adjacent ski is obliterated

Question 14

What pathogens may cause an exacerbation of bronchiestasis?

Answer 14

• Staphylococcus aureus - Streptococcus pmeumoniae - Haemophilus influenzae - Pseudomonas aeruginosa - Aspergillus

Question 15

What investigations should be taken for bronchiestasis?

Answer 15

• History - Genetics - Faecal elastase - Cilia beat frequency - Autoantibody screen - Sputum - Lung function - Aspergillus antibodies

Question 16

Is bronchiestasis obstructive or restrictive?

Answer 16

Obstructive

Question 17

What is cystic fibrosis?

Answer 17

Inherited (autosomal recessive) condition that causes sticky mucus to build up in lungs and digestive system. Lungs get increasingly damaged over time (cysts and fibrosis)

Question 18

How common is CF?

Answer 18

Carrier frequency of 1 in 25 CF incidence 1 2000-2500 More than 2000 mutations

Question 19

What is CF caused by?

Answer 19

Mutation in gene CFTR (found on chromosome 7) Most common mutation is Phe508del (deletion of 3 nucleotides that results in loss of phenylalanine at 508th position on protein). F508 deletion.

Ciliated airway epithelial cells in patient have mutated protein which leads to airway dehydration and abnormally viscous mucus production.

Question 20

What are symptoms of CF?

Answer 20

• Repeated chest infections - Wheezing, coughing, shortness of breath, damage to airways (bronchiestasis) - Jaundice - Diarrhoea, constipation - Difficulty putting on weight and growing (don’t absorb nutrients properly as mucus clogs pancreas)
• Haemoptysis
• Reduced vision

Question 21

What else can CF lead to?

Answer 21

• Diabetes (over 30% of adults have CF related diabetes) - Osteoporosis - Infertility in males - Liver disease

Question 22

What is the product of the CFTR protein?

Answer 22

A chloride ion channel important in creating sweat, digestive juices and mucus

• Facilitates movement of chloride from swaet fuct into cytoplasm

Question 23

What does mutation in CFTR result in?

Answer 23

Excess chlorine in sweat which prevents sodium reabsorption by epithelial sodium channels and the combination of Na and Cl creates the salt which is lost in high amounts in sweat –> lost salt forms basis of sweat test

Water follows Na so depth of airway lining fluid will be depleted (airway dehydration) and cilia will be left in the mucous layer

Gene is required to regulate the hydration of sweat, digestive juices, airways and mucus

Question 24

How can CF be diagnosed?

Answer 24

• Pancreatic function –> faecal elastase
• CT chesst, US liver and pancreas
• Sperm (obtructive azoospermia)

Question 25

Is CF obstructive or restrictive?

Answer 25

Obstructive

Question 26

What is the average survival age of those with CF?

Answer 26

Around 35-40

Question 27

How can CF be diagnosed?

Answer 27

- Newborn babies are screened - Sweat test (measure salt which will be high in CF) - Genetic test (check for faulty gene)

Question 28

What are chances of child having CF if **both parents** are carriers?

Answer 28

1/4 their child will be normal 1/2 their child will inherit faulty gene from one parent and be a carrier 1/4 their child will inherit faulty gene from both parents and have CF

Question 29

What are chances of child having CF if **one parent** is a carrier and **one parent** has CF?

Answer 29

1/2 their child will be carrier 1/2 their child will have CF

Question 30

What clinical signs may be present in CF?

Answer 30

- Clubbing - Coarse crackles - Wheeze - None

Question 31

What is reduced vision associated with CF caused by?

Answer 31

Vitamin A deficiency (fat soluble vitamin)

Question 32

What are Class II / Class III mutations responsible for?

Answer 32

Class II --\> Protein Processing Mutations (e.g. F508del) Class II --\> Gating Mutations

Question 33

How does the drug ivacaftor (Kalydeco) help CF?

Answer 33

Class III - CFTR potentiator (VX770) Forcing the gate on the CFTR channel to stay open so chloride can move through channel

Question 34

What are potentiators / correctors in regards to CF treatment?

Answer 34

Potentiators --\> Increase channel activity of CFTR protein located at cell surface Correctors --\> Increase delivery and amount of functional CFTR protein to the cell surface

Question 35

How are class II mutations treated?

Answer 35

The drug combination **lumacaftor/ivacaftor (Orkambi®)** works by enabling CFTR protein with an F508del mutation to fold in a more **correct shape,** and then activates the protein to allow more chloride to pass through. Although this drug combination is not a perfect fix, it helps the mutant CFTR protein to move some chloride. This movement of chloride reduces the symptoms of CF.

Question 36

What is pneumonia?

Answer 36

An acute lower respiratory infection associated with recently developed radiological signs. Causes swelling of tissue in one of both lungs. Alevolar sacs become inflamed and fill up with liquid. Caused by **bacterial infection**

Question 37

What are symptoms of pneumonia?

Answer 37

- Progressive breathlessness - Fever with shivering attacks - Left sided sharp chest pain - General malaise / lethargy - Cough and chest pain (sharp and worse on inspiration) - Rapid heartbeat - High temperature

Question 38

How can pneumonia be diagnosed?

Answer 38

- Listen to back --\> crackles, rattles - Tapping on chest --\> dull sound as lungs filled with fluid

Question 39

How can pneumonia and hypotension be associated?

Answer 39

- Inflammatory stimulus - Decreasing peripheral arterial resistance - Cardiac output increases

Question 40

What common organisms can cause pneumonia?

Answer 40

- Streptococcus pneumoniae - Chlamydia pneumoniae - Mycoplasma pneumoniae - Staphylococcus aureus - Influenza

Question 41

How can pneumonia be treated?

Answer 41

- Antibiotics - Drain - Pleural aspiration

Question 42

What type of lung disease is bronchiestasis?

Answer 42

Obstructive lung disease (along with emphysema, bronchitis and CF)

Question 43

Physiological abnormalities of bronchi in bronchiectasis?

Answer 43

Bronchi are dilated, inflamed, and easily collapsible, resulting in airflow obstruction and impaired clearance of secretions

Question 44

Causes of bronchiestasis?

Answer 44

- Prior infections (Bordetella pertussis, measles, bacterial pneumonia) - Immunodeficiencies - Other acquired causes: e.g. tuberculosis, connective tissue diseases, allergic bronchopulmonary aspergillosis; and foreign body aspiration - Other congenital causes; e.g. ciliary dyskinesia including Kartagener syndrome, Alpha-1 antitrypsin deficiency

Question 45

What are congential causes of bronchiectasis?

Answer 45

Ciliary dyskinesia including Kartagener syndrome, Alpha-1 antitrypsin deficiency

Question 46

Symptoms of bronchiecstasis

Answer 46

Dyspnoea (breathlessness) Chronic sputum production which is often green / yellow in colour Repeated chest infections Halitosis (bad breath)

Question 47

Clinical signs of bronchiectasis?

Answer 47

- Coarse crepitations heard with stethoscope over affected area of lung - Hypoxaemia (low blood oxygen) - Hypercapnia (high blood CO2)

Question 48

High resolution CT scan result for bronchiectasis?

Answer 48

Dilated airways with ring shadows 'signet ring sing) Obstructive pattern on spriometry

Question 49

Blood gases test results for bronchiectasis?

Answer 49

Low O2 and high CO2

Question 50

Medical intervention for bronchiectasis?

Answer 50

* Controlling infections and bronchial secretions * Relieving airway obstructions * Prompt antibiotic therapy for pulmonary exacerbations * In a small number of cases where there is localised bronchiectasis surgery to affected lung can be undertaken Removal of airway secretions with chest physiotherapy such as postural drainage. * Use of nebulised antibiotics such as colomycin, tobramycin to reduce pulmonary exacerbations in patients colonised with Pseudomonas Aeruginosa * Maintain body weight with nutritional support is key.

Question 51

1ary/2ary prevention for bronchiectasis?

Answer 51

- Children should be immunized against measles, pertussis and other acute respiratory infections of childhood - Adult vaccination (especially against pneumonia and influenza) - All patients should avoid smoking

Question 52

What anatomical structures does CF affect?

Answer 52

Airway epithelial cells that line respiratory tract Causes multi-system disorder e.g. lungs, sweat glands, pancreas and bowel

Question 53

Why are males with CF usually infertile?

Answer 53

Congenital absence of vas deferens

Question 54

How is CF related diabetes caused?

Answer 54

Loss of Islets of Langerhans cells in the pancreas which are responsible for making insulin (CFTR regulated insulin secretion)

Question 55

Symptoms of CF?

Answer 55

Coughing / Sputum production / Pyrexia Shortness of breath Chronic lung infection Repeated chest exacerbations Abnormal bowel motions

Question 56

Clinical signs of CF?

Answer 56

Salty skin, / Poor growth / Poor weight gain Poor absorption of nutrients through the gastrointestinal tract including fat soluble vitamins Coughing up blood (haemoptysis) Finger clubbing / Cyanosis

Question 57

Abnormal test results for CF?

Answer 57

Before or at birth through genetic screening Sweat test in early childhood Obstructive lung function Sputum cultures positive for Staphylococcus, Haemophilus and Pseudomonas aeruginosa Abnormal pancreatic function Azoospermia (no sperm) Difficulties getting enough oxygen to the body (hypoxia)

Question 58

Medical treatment for CF?

Answer 58

Specialist multidisciplinary centres Physiotherapy / Nutrition Treat chronic and acute infections Ultimately, lung transplantation is often necessary

Question 59

What anatomical structures are affected by pneumonia?

Answer 59

- Parenchyma of lung (alveoli) --\> alveolar filling with fluid (consolidation and exudation) - Bronchial tree --\> bronchial obstruction due to tumour or plugging by secretions

Question 60

What is pneumonia?

Answer 60

Inflammatory condition of lung including inflammation of bronchi and alveoli. Pneumonia fills alveoli with fluid and stops O2 from reaching bloodstream

Question 61

What is most common pneumonia?

Answer 61

Bacterial bronchopneumonia

Question 62

What can cause aspiration pneumonia?

Answer 62

Vomiting when semi-conscious and with unprotected airway

Question 63

Symptoms of pneumonia?

Answer 63

Productive cough Fever / shaking (rigors) / chills Unilateral chest pain aggravated by breathing (pleuritic) – “sharp stabbing” Difficulty breathing (dyspnoea) Headache / confusion / unsteadiness

Question 64

Clinical signs of pneumonia?

Answer 64

High temperature Green or brown sputum Tachypnoea (fast rate of breathing) Tachycardia (high heart rate) Hypotension (low blood pressure) Hypoxia (low oxygen) and cyanosis (blue appearance) if severe. Bronchial breathing (harsh sounding breath sounds) and crackles heard with a stethoscope

Question 65

Chest X-ray of pneumonia?

Answer 65

Consolidation (white wedge appearance outlining lobe of lung)

Question 66

Blood/sputum culture present in pneumonia?

Answer 66

E.g. Streptococcus pneumoniae

Question 67

What are some atypical pneumonias?

Answer 67

Mycoplasma pneumoniae, Chlamydia pneumoniae

Question 68

Medical treatment for pneumonia?

Answer 68

Oxygen Fluids (intravenous if low blood pressure) Bacterial pneumonia is treated with antibiotics (e.g. penicillin) If severe - assisted ventilation may be required

Question 69

1ary/2ary prevention for pneumonia?

Answer 69

Leading cause of death among the young, the old, and the chronically ill. Vaccination is available for pneumococcal pneumonia and flu

Question 71

What are coarse crackles caused by?

Answer 71

Coarse crackles are louder, more low pitched and longer lasting. They indicate excessive fluid on the lungs which could be caused by aspiration, pulmonary oedema from chronic heart disease, chronic bronchitis, pneumonia.

Question 72

What is the faecal elastase test?

Answer 72

Elastase 1 is a protease synthesised by pancreatic acinar cells and secreted into the duodenum. It is not degraded during transit and is concentrated in the faeces. This test measures the amount of elastase in stool (faeces) to help evaluate whether a person's pancreas is functioning properly.