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Internal Medicine > Harrison - Cystic Fibrosis > Flashcards

Harrison - Cystic Fibrosis Flashcards

1
Q

Percentage of patients >18?

A

> 46%.

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2
Q

Percentage of patients over 30?

A

16.4%.

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3
Q

Median survival in CF?

A

> 37.4

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4
Q

What is the general picture of CF?

A
  1. Chronic bacterial infection of the airways that leads to bronchiectasis and bronchiolectasis.
  2. Exocrine pancreatic insufficiency.
  3. Intestinal dysfunction.
  4. Abnormal sweat gland function.
  5. Urogenital dysfunction.
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5
Q

The mutations in the CFTR gene fall into how many categories?

A

5.

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6
Q

Severe CFTR mutations?

A

Class I, II, III –> Pancreatic insufficiency + high sweat NaCl values.

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7
Q

Mild CFTR mutations?

A

Class IV and V –> pancreatic insufficiency and intermediate/normal sweat NaCl values.

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8
Q

Prevalence of CF?

A

Variable - 1/3.000 in Caucasian of Europe and North America. 1/90.000 in Asian population of Hawaii.

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9
Q

What is the MC mutation in CF?

A

Class II –> 3bp deletion that results in an absence of phenylalanine at amino acid position 508 (ΔF508).

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10
Q

Class I mutations involve?

A

Defective protein synthesis of CFTR.

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11
Q

Class II mutations involve?

A

Defective processing of CFTR.

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12
Q

Class III mutations involve?

A

Defective regulation

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13
Q

Class IV mutations involve?

A

Defective conduction.

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14
Q

Class V mutations involve?

A

Reduced functioning CFTR.

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15
Q

Epithelial dysfunction in CF?

A

Diverse and organ specific.

  1. Some are volume absorbing - airways and distal epithelia.
  2. Some are salt- but not volume absorbing - sweat duct.
  3. Some are volume secretory - proximal intestine and pancreas.
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16
Q

Epithelial dysfunction in CF - What is the unifying concept?

A

All affected tissues express abnormal ion transport function.

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17
Q

Diagnostic biophysical hallmark of CF airway epithelia?

A

The raised transepithelial electric potential difference (PD) - reflects both the rate of active ion transport and epithelial resistance to ion flow.

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18
Q

Central hypothesis of CF airways pathophysiology?

A

Faulty regulation of Na absorption and inability to secrete Cl via CFTR reduce the volume of liquid on airway surfaces i.e. They are “dehydrated”.

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19
Q

The infection that characterizes CF airways involves?

A

The MUCUS layer rather than epithelial or airway wall invasion.

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20
Q

O2 tension in CF mucus?

A

Is very LOW - Adaptations to hypoxemia are important determinants of the physiology of bacteria in the CF lung.

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21
Q

Both mucus stasis and mucus HYPOXEMIA contribute to?

A
  1. The propensity for Pseudomonas to grow in biofilm colonies within CF airway mucus.
  2. The presence of strict anaerobes in CF lungs.
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22
Q

Percentage of patients with hepatobiliary problems (focal biliary cirrhosis, bile-duct proliferation)?

A

25-30%.

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23
Q

CF and gallstones?

A

Inability of the CF gallbladder epithelium to secrete salt and water can lead to both chronic cholecystitis and cholelithiasis.

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24
Q

How is the sweat gland dysfunction measured in CF?

A

By measuring Cl concentrations in sweat collected after iontophoresis of cholinergic agonists.

25
Q

What percentage of CF patients presents within the first 24h?

A

Approx. 20% –> GI obstruction, termed meconium ileus.

26
Q

CF - Respiratory clinical features?

A
  1. Almost universal.
  2. Chronic sinusitis in childhood - High incidence of nasal polyps (25%).
  3. First symptom of lower respiratory tract is cough - productive with greenish color.
  4. Asymptomatic periods with periods of pulmonary exacerbations, often triggered by viral infections –> Eventually, respiratory failure.
27
Q

CF - Characteristic sputum microbiology:

A
  1. H.influenza.
  2. S.aureus.
  3. P.aeruginosa - often multi-resistant.
  4. Burkholderia cepacia.
  5. Other gram(-) rods –> Alcaligenes xylosoxidans, B.gladioli, and occasionally Proteus, E.coli, Klebsiella.
  6. Up to 50% –> A.fumigatus - Up to 10% exhibit ABPA.
  7. M.tuberculosis is RARE.
28
Q

First lung-function abnormalities in CF children?

A

Incr. RV/TLC –> Suggest that SMALL-airways disease is the first functional lung abnormality in CF.

29
Q

What happens to lung function as CF progresses?

A

BOTH reversible and irreversible changes in FVC and FEV1 develop.
REVERSIBLE component –> Reflects the accumulation of intraluminal secretions and/or airway reactivity, which occurs in 40-60% of patients with CF.
IRREVERSIBLE component –> Reflects chronic destruction of the airway wall and bronchiolitis.

30
Q

CXR findings in CF - Early?

A

Hyperinflation –> reflecting small airway obstruction.

31
Q

CXR in CF - Late?

A

Signs of luminal mucus impaction, bronchial cuffing, and finally bronchiectasis, eg ring shadows are noted.

32
Q

Where do we find the earliest findings in CF?

A

The right upper lobe displays the earliest and most severe changes - For reasons that remain speculative.

33
Q

Respiratory complications of CF?

A
  1. Pneumothorax in >10% of patients.
  2. Production of small amounts of blood –> Advanced disease.
  3. Life-threatening massive hemoptysis.
  4. Clubbing.
  5. LATE EVENTS –> Respiratory failure, cor pulmonale.
34
Q

Distal intestinal obstruction syndrome (DIOS) in CF?

A

In children and young adults –> RLQ pain, loss of appetite, occasionally emesis, often a palpable mass –> Confused with appendicitis.

35
Q

Percentage of CF patients with exocrine pancreas insufficiency?

A

> 90%.

36
Q

Diabetes in CF?

A

LATE - Inflammation-induced insulin resistance + dysfunction of beta cells –> Hyperglycemia that requires insulin –> IN >29% of patients >35.

37
Q

CF - Genitourinary system?

A
  1. Late onset of puberty is common in BOTH males and females with CF.
  2. > 95% of male patients with CF are azoospermic - obliteration of the vas deferens due to defective liquid secretion.
  3. Some 20% of CF women are infertile due to effects of chronic LUNG disease on the menstrual cycle and thick, tenacious cervical mucus that blocks sperm migration.
38
Q

Most CF pregnancies produce?

A

Viable infants, and CF women breast-feed infants normally.

39
Q

Diagnosis of CF?

A

Rests on the combination of clinical criteria and abnormal CFTR function as documented by sweat tests, nasal PD measurements, and CFTR mutation analysis.

40
Q

Cl sweat concentration for CF diagnosis?

A

Varies with age - Typically >70mEq/L.

41
Q

Percentage of CF patients with the clinical syndrome of CF and normal sweat Cl values?

A

1-2%.

42
Q

Major objectives of CF therapy?

A

To promote clearance of secretions and control infection in the lung, provide adequate nutrition, and prevent intestinal obstruction.

43
Q

More than 95% of CF patients die of complications from?

A

Lung infection.

44
Q

The time-honored techniques for clearing pulmonary secretions are?

A
  1. Exercise.
  2. Flutter valves.
  3. Chest percussion.
45
Q

Role of inhaled hypertonic saline 7% in CF treatment?

A

Efficient in restoring mucus clearance and pulmonary function in short term studies and in reducing acute exacerbations in a long-term (1-yr) study –> It is becoming standard of care.

46
Q

Why the antibiotic doses in CF are higher?

A

Because of increased total-body clearance and volume of distribution of antibiotics in CF patients.

47
Q

Antibiotics for CF?

A
  1. EARLY –> May eradicate Pseudomonas for extended periods.
  2. LATE –> Suppression is the goal.
    A. Azithromycin 250mg/d or 500mg 3x/wk is often used chronically
    B. Inhaled aminoglycosides (Tobramycin 300mg bid).
48
Q

Role of INHALED beta-agonists and ORAL steroids in CF?

A

INHALED beta-agonists –> useful to control airways constriction - NO long term benefit.
ORAL steroids –> Reduce inflammation - Limited by side effects/ May be useful for treating ABPA.

49
Q

NSAIDS in CF?

A

A subset of adolescents with CF may benefit from long-term, HIGH-dose ibuprofen.

50
Q

Atelectasis in CF?

A

Requires treatment with inhaled hypertonic saline, chest physio, and antibiotics.

51
Q

Massive hemoptysis in CF?

A

Bronchial artery embolization.

52
Q

Most ominous complications of CF?

A
  1. Respiratory failure.

2. Cor pulmonale.

53
Q

Most effective conventional therapy for respiratory failure and cor pulmonale in CF patients?

A
  1. Vigorous medical management of the lung disease.
  2. O2 supplementation.
    - -> Ultimately, TRANSPLANTATION is the only solution.
54
Q

2-yr survival for lung transplantation?

A

Exceeds 60%, and transplant-patient deaths result principally from obliterative bronchiolitis.

55
Q

Pancreatic insufficiency treatment in CF?

A

> 90% of patients.
Capsules 4.000-20.000 units of lipase.
Typically no more than 2.500/kg per meal, to avoid fibrosing colonopathy!

56
Q

Percentage of CF patients with cholestatic liver disease?

A

In about 8% of CF patients - Treatment with ursodeoxycholic acid.

57
Q

Percentage of CF patients with end-stage liver disease?

A

5% and is treated with transplantation.

58
Q

CF have an increase risk for?

A
  1. Osteoarthropathy.
  2. Renal stones.
  3. Osteoporosis.
    PARTICULARLY FOLLOWING TRANSPLANT.
59
Q

CF patients that are diagnosed as adults?

A

5%

Internal Medicine (107 decks)

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