Cystic Fibrosis Flashcards

1
Q

Cystic fibrosis (CF) is

A

autosomal recessive

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2
Q

The gene for CF, located on the

A

long arm of chromosome 7, encodes for the cystic fibrosis transmembrane conductance regulator (CFTR), a chloride channel located on the apical surface of epithelial cells.

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3
Q

The altered chloride ion conductance in the sweat gland results in

A

in excessively high sweat sodium and chloride levels.

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4
Q

The most common mutation is

A

is a deletion of three base pairs resulting in the absence of phenylalanine at the 508 position (

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5
Q

which is still the standard diagnostic test for this disorder.

A

sweat chloride test,

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6
Q

The secretory and absorptive characteristics of epithelial cells are affected by abnormal CFTR,

A

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7
Q

CF is a chronic progressive disease that can present with protein and fat malabsorption (failure to thrive, hypoalbuminemia, steatorrhea), liver disease (cholestatic jaundice), or chronic respiratory infection

A

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8
Q

The respiratory epithelium of patients with CF exhibits

A

impermeability to chloride and an excessive reabsorption of sodium.

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9
Q

endobronchial colonization with bacteria, especially__________&_________

A

Staphylococcus aureus and Pseudomonas aeruginosa.

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10
Q

Chronic bronchial infection results in persistent or recurrent cough that is often productive of sputum, especially in older children.

A

Chronic airway infection leads to airway obstruction and bronchiectasis and, eventually, to pulmonary insufficiency and premature death.

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11
Q

Digital clubbing is common in patients with CF, even in those without significant lung disease. Chronic sinusitis and nasal polyposis are common.

A

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12
Q

Allergic bronchopul- monary aspergillosis (ABPA) is a hypersensitivity reaction to Aspergillus in the CF airways.

A

Allergic bronchopul- monary aspergillosis (ABPA) is a hypersensitivity reaction to Aspergillus in the CF airways.

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13
Q

The treatment for ABPA is______

A

systemic corticosteroids (prednisone )and antifungal agents (itraconazole).

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14
Q

Minor hemoptysis is usually due to_______, but major hemoptysis is often caused by_______________

A

airway infection, bleeding from bronchial artery collateral vessels in damaged/chronically infected portions of the lung.

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15
Q

The inspissation of mucus and subsequent destruction of the pancreatic ducts result in the inability to excrete pancreatic enzymes into the intestine. This leads to

A

malabsorption of proteins, sugars (to a lesser extent), and especially fat. Fat malabsorption manifests clinically as steatorrhea (large, foul-smelling stools), deficiencies of fat- soluble vitamins (A, D, E, and K), and failure to thrive. Protein malabsorption can present early in infancy as hypoproteinemia and peripheral edema

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16
Q

Approximately 10% of patients with CF are born with intestinal obstruction caused by inspissated meconium (

A

meconium ileus).

17
Q

In older patients, intestinal obstruction may result from thick inspissated mucus in the intestinal lumen (

A

distal intestinal obstruction syndrome [DIOS])

18
Q

In adolescent or adult patients, progressive pancreatic damage can lead to enough islet cell destruction to cause_______ deficiency. This initially presents as glucose intolerance, but true diabetes that requires insulin therapy (CF-related diabetes) may develop

19
Q

The failure of the sweat ducts to conserve sodium and chloride may lead to___________________, especially in infants.

A

hyponatremia and hypochloremic metabolic alkalosis