Cystic Fibrosis + other Bronchiectasis Flashcards

1
Q

What is cystic fibrosis?

A

Alteration in the structure and function of CFTR protein –> impaired transport of chloride ions –> production of thick sticky mucous in lungs, pancreas + other organs

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2
Q

What is the most common mutation?

Is is the pattern of inheritance?

A
F508 deletion
Autosomal recessive (1 in 25 carrier)
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3
Q

How is CF diagnosed?

A

Positive newborn screen (immunoreactive trypsinogen - IRT)
+ve sweat test
genetic testing

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4
Q

What may be seen at birth in a baby with CF?

A

Delayed passage of meconium (may cause obstruction - meconium ileus)

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5
Q

What are some clinical features of CF?

A
Failure to thrive (but increased appetite)
Wet sounding cough
Recurrent chest infections
Congenital absence of the vas deferens
Steatorrhoea (fat malabsorption)
Salty sweat
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6
Q

What does CF look like on a CXR?

A

BRONCHIECTASIS

usually upper lobe

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7
Q

Describe the exocrine pancreatic failure in CF and how it is treated

A

Failure of secretion of lipase/amylase –> digestion failure

Treated with CREON (enzyme replacement)

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8
Q

Describe the endocrine pancreatic failure in CF and how it is treated

A

Destruction of islet cells –> failure of insulin production

Treated with insulin

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9
Q

Describe the pathophysiology of bronchiectasis

A

Irreversible dilation of the bronchial tree due to chronic infection
Airflow obstruction
Impaired clearance of secretions

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10
Q

What are the clinical features of bronchiectasis?

A

Chronic productive cough
SOB
Recurrent chest infections
Crackles, high pitched inspiratory squeaks and rhonchi

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11
Q

What are rhonchi?

A

Sounds like snoring

Due to secretions in large airways

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12
Q

How is bronchiectasis diagnosed?

A

CT chest –> dilation of bronchi +/- airway thickening

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13
Q

What is the classic sign of bronchiectasis on CT?

A

Signet ring sign –> bronchi larger than their adjacent pulmonary artery

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14
Q

Name three congenital causes of bronchiectasis

A

CF
Young syndrome
Kartagner’s syndrome

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15
Q

What are the features of Young syndrome?

A

Bronchiectasis
Rhinosinusitis
Male infertility

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16
Q

What are the features of Kartagner’s syndrome?

A

Ciliary dyskinesia
–> bronchiectasis
–> female infertility (cilia in fallopian tubes don’t work)
Situs invertus e.g. dextrocardia

17
Q

What is the management of bronchiectasis?

A

Stop smoking
Influenza and pneumococcal vaccines
Antibiotics