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Respiratory > CF > Flashcards

CF Flashcards

1
Q

What is Cystic fibrosis [2]

Inheritance

A

Defect in CFTR gene on chromosome 7

Inheritance: autosomal recessive

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2
Q

What gene loci is associated with 70% cases?

What does CFTR stand for?

Function of the CFTR gene

A

delta F508 on 7q

Cystic fibrosis transmembrane conductance regulator

CFTR codes for cAMP-regulated chloride channel causing increased viscosity of secretions

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3
Q

Function of the CFTR gene

A

Active transport of chloride and Na
Regular volume on epithelial surface giving cilia normal function
Abnormal viscosity interfere with clearance leading to bacteria colonisation and repeated infections
- Cilia collapse
- Excessive inflammation
Increased Na and decreased Cl inactive defences
Abnormal mucous builds up which traps bacteria

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4
Q

What are different classes of mutation [4]

A

Class 1 - no synthesis
Class 2 - no maturation
Class 3 - CFTR doesn’t work
Class 4 - decreased conductance

Get milder from class 1 to 4

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5
Q

What fraction of the population is carrier and affected? [2]

A

1 in 25 carrier

1 in 2500 affected

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6
Q

Pathophysiology CF
Pancrease [3]
Intestine [2]
Lungs [2]

A

Pancreas

  • blockage of pancreatic exocrine ducts
  • leading to early activation of pancreatic enzymes
  • auto-destruction of exocrine pancreas

Intestine
- bulky stools and obstruction

Lungs

  • Mucus retention
  • Chronic infection
  • Lung tissue destruction
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7
Q

Effects of reduced chloride out and increased Na in lead too? [2]

A
  • Inactivates defences in airway

- CF have abnormal mucous glycoprotein which acts as binding site for bacteria

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8
Q

What are antenatal features? [3]

A

Carrier testing
Echogenic bowel
Perforated meconium ileum

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9
Q

What are neonatal features [4]

A

Meconium ileus
Intestinal atresia
Prolonged (obstructive) jaundice
Steatorrhea, FTT

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10
Q

What are features in children [6]

A 
Recurrent chest infection
Chronic productive cough 
Constipation (dysmotility) 
Rectal prolapse (bulky stools)
Pancreatic insufficiency - DM
Delayed puberty, short stature
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11
Q

What are common organisms in CF / chronic and their antibiotic treatments [6]

A 
S.Aureus - flucloxacillin
H. influenza - cotrimoxazole
Pseudomonas: tazocin, inhaled tobramycin
Mycoplasma (non-TB) - clarithromycin
Burkholderia cepacia - tazocin
Aspergillus -amphotericin
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12
Q

What are less common organisms [2]

A

Mycobacterium abscess

Genovar III

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13
Q

What are the signs of pancreatic insufficiency in CF [5]

A 
Failure to gain weight / FTT
Fat malabsorption, Vitamin deficiency 
Steatorrhea, Offensive stools
DM 
Gall stones, Biliary cirrhosis
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14
Q

What do recurrent chest infections cause

A 
Pneumonitis
Bronchiectasis
Pneumothorax
Resp failure
Cor pulmonale 
Scarring and difficult to inflate lungs / SOB
Abscess 
Cyanosis
Clubbing
Coarse crackles
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15
Q

Clinical features more apparent in adulthood [10]

A 
Nasal polyps, Sinusitis, Airway obstruction 
Clubbing in women
Male infertility, female subfertility
Gall stones
Cirrhosis 
Chronic pancreatitis
Pseudo-bartter
Osteporosis
Vasculitis
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16
Q

What is pseudo-bartter? [2]

A
  • Hyperaldosterone but normal BP
  • Hypokalameic
    Hypochloraemic metabolic alkalosis in absence of renal pathology
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17
Q

How do you screen CF? [2]

A
  • Neonatal screening as part of Guthrie tests

- High immunoreactive trypsinogen (IRT)

18
Q

What is needed for diagnosis of CF [2]

Monitoring investigations [10]

A
  • If IRT +ve then do sweat test
  • Genetic testing if not definitive

CXR
HRCT
FBC, U+E, LFT
Clotting + Vit ADEK due to malabsorption
Faecal elactase = pancreatic enzyme that is raised
Sputum culture to look for bacterial colonisation
Glucose tolerance test
Spirometry = obstructive
Abdo USS (liver)
Bone scans

19
Q

What is the threshold of a positive sweat test

A

> 60mEq/l (normal is <40)

20
Q

What gives false +Ve [6]

A 
Malnutrition
Adrenal insufficeincy
Glycogen storage disorder
DI
Hypothyroid
G6PD
21
Q

What gives false -ve [2]

A

Skin oedema due to hypoproteinaemia secondary to exocrine insufficiency

22
Q

What does CXR show [4]

A

Scarring
Hyperinflation
Cyst
Bronchial dilation

23
Q

What does CT show [3]

A

Dilated airway
Thickened wall
Pus

24
Q

What will USS show [3]

A

Pancreatitis
Gall stone
Cirrhosis

25
Q

How often do you check for DM

A

Annual OGTT

26
Q

How do you treat pancreatic insufficiency? [6]

A
  • Enteric coated enzyme tablets every meal (Creon / Pabrinex)
  • High energy diet, High fat
  • Fat soluble vitamisn - ADEK
  • H2 antagonist / PPI as increase pH and help absorption
  • NG feed only if can’t maintain weight
  • Insulin
27
Q

Management of lung complications [7]

A
  • Chest physio, postural drainage
  • Nebulised rhdnase with saline
  • Bronchodilator for obstruction
  • Annual CXR
  • Flu vaccine, cohorting
  • Prophylactic antimicrobials
  • Antibiotics for acute infection
28
Q

What Ax as prophylaxis [3]

A
  • Flucloxacillin up to 3-6yo
  • Inhaled colamycin (pseudomonas)
  • Oral anti-fungals
    s
29
Q

What do you do in advancing disease to reduce inflammation [3]

A

NSAID
Prednisolone
Azithromycin

30
Q

Review in CF [7]

A
  • Clinical assessment: hx, medication adherence., ex, height and weight
  • SpO2 measurement
  • Sputum/NPA/cough swab sample
  • Spirometry
  • Imaging
  • Dietetic review
  • Psychological review
31
Q

Medication specific to homozygous for delta F508 mutation

A

Ivacaftor

Lumacaftor

32
Q

What do you do in advance lung disease [4]

A

Oxygen
Diuretic if cor pulmonale
NIPPV
Transplant

33
Q

Contraindications for transplant [7]

A 
Mycoplasma abscess
TB / aspergillus
Other infection
IVDA
Peripheral vascular
Malignancy in past 5 years
Organ failure
34
Q

Indications for transplant [5]

A 
FEV1 <30%
Hypoxia at rest
Hypercapnia
Life threatening exacerbation
Survival <2 years
35
Q

Resp complications

A 
Obstruction = wheeze
Lung parenchyma destroyed / scarring 
Cor pulmonale
Pneumonia 
Bronchiectasis 
Lung abscess 
Pulmonary osteo-arthropathy 
Hypertrophy of bronchial artery = haemoptysis
Pneumothorax
Resp failure
Death
36
Q

How does CF lead to resp failure [3]

A

Obstruction leads to impairment of gas exchange
Get hypoxia and hypercapnia
Go into resp failure

37
Q

What is meconium ileus

A

Meconium causes obstruction in GI tract
Failure to pass stool
Vomiting in 1st two days of life
Distended loops of bowel

38
Q

How do you Rx

A

NG tube drainage
Wash out enema
Excision of gut

39
Q

What can present like meconium ileus

A

Dehydration

40
Q

What is usual cause of death

A

Pneumonia

Cor pulmonale

Respiratory (14 decks)

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