Cystic Fibrosis Flashcards

1
Q

What will normally cause death in CF patients

A

Pulmonary Complications

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2
Q

What is cystic fibrosis?

A

It is a hereditary disease characterized by lung congestion and infection along with malabsorption of nutrients by the pancreas. A multifaceted disease caused by genetically defective chloride ions in the apical surface of the epithelial lining resulting in impaired chloride-flow across membranes through the cystic fibrosis conductance regulator (CFTR) channel.

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3
Q

What happens in cystic fibrosis?

A

Mucus clogs the lungs leading to chronic respiratory infections and mucus obstructs the ducts of the pancreas preventing digestive enzymes from reaching the intestines.

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4
Q

What system is cystic fibrosis a dysfunction of?

A

The exocrine system.

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5
Q

Where is the mutation is seen in CF

A

Mutations on chromosome 7 that encodes a multifunctional protein called the CF transmembrane conductance regulator (CFTR).

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6
Q

How many chromosomes are in the

A

46 chromosome and 26 pairs

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7
Q

what is the most common mutation

A

ΔF508

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8
Q

Main Functions CFRT

A

One of the main functions CFRT is to serve as an apical chloride channel in airway, intestinal, and exocrine cells.

The movement of chloride ions and regulation of sodium ions is important to the proper regulation of the water content of secretions.

CFTR is the reason for thick secretions, which can clog ducts and glands

The dehydrated viscous secretions that result from the CFTR abnormality lead to organ dysfunction resulting in the clinical manifestations of the disease.

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9
Q

What results in the varying levels of CF dysfunction

A

There are over 1900 known CFTR mutations, which are grouped into six classes that result in varying levels of CFTR production and dysfunction.

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10
Q

The abnormality of CFRT result in thick mucus that can block what

A

Bronchial airways

Passage way of Pancreas (inhibits digestion of protein and fat, vitamin deficiency)

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11
Q

Meconium ileus

A

Can result in infants with CF

Meconium ileus: bowel obstruction that often leads to perforation (meconium peritonitis)

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12
Q

If both parents carry the recessive gene what is the chance of the baby having CF

A

25% as it is a recessive disorder

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13
Q

ANATOMICAL ALTERATIONS of CF

A

Excessive mucus production and accumulation of thick, tenacious mucus
Partial or total bronchial obstruction (mucus plugging)
Atelectasis
Hyperinflation of alveoli

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14
Q

GASTRO-INTESTINAL Symptons of CF

A

Foul spelling greasy stool
Meconium ileus in infants-Ability to expel meconium has been blocked
Bowel Perforation
Pancreatic insufficiency=Malabsorption of fats and proteins resulting in failure to thrive
Pancreatitis

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15
Q

HEPATOBILIARY in CF

A
  • Hepatomegaly
  • Focal Biliary Cirrhosis
  • Prolonged Neonatal Jaundice
  • Cholelithiasis (Gall Stones)
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16
Q

NUTRITIONAL DEFICITS

A

Fat-Soluble vitamin deficiency (vitamins A, D, E, K)
Hypoproteinemia
Hypochloremia
Metabolic acidosis

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17
Q

What leads to the chronic cough in patients with CF

A

• The decreased airway surface liquid secondary to CFTR dysfunction leads to impaired mucus clearance, resulting in inflammation and infection of the airways that causes a patient to have a chronic productive cough.

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18
Q

CF and Chronic Airway Infections

A

Chronic airway infections can occur early in life, most frequently with S. aureus, H. influenzae, or Pseudomonas aeruginosa.

The major pathogens is pseudomonas and staph which is associated with greater declines in lung function

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19
Q

Infection Cycle

A
  • As the disease progresses, the cycle of inflammation, infection, and lung damage results in lung hyperinflation and bronchiectasis.
  • Patients with end- stage CF lung disease have severe debility from respiratory failure and may develop pulmonary hypertension and cor pulmonale
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20
Q

CF PResentation

A
o	SOBOE
o	Increased RR, HR, cardiac output, blood pressure
o	Use of inspiratory and expiratory accessory muscles 
o	Pursed lip breathing
o	Increased anteroposterior chest diameter (barrel chest)
o	Cyanosis
o	Digital clubbing
o	Peripheral edema and venous distention
	Distended neck veins
	Pitting edema
	Enlarged and tender liver
o	Cough, sputum production, hemoptysis
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21
Q

CF Chest Findings

A

o Decreased or increased tactile and vocal fremitus
o Hyperresonant percussion note
o Diminished breath sounds
o Diminished heart sounds
o Crackles/rhonchi/wheezing
o Increased due to consolidation, secretions
o Decreased due to air trapping

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22
Q

CF Non-Respiratory Manifestations

A

Anorexia, weight loss
Increased risk for diabetes
Liver disease can result in prolonged obstructive jaundice in the newborn period.
Males with CF have obstructive azospermia as a result of congenital absence of the vas deferens.

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23
Q

DIAGNOSIS of CF

A

The diagnosis of cystic fibrosis is confirmed what at least one item from each of the following areas are established

Sweet Chloride Level

Two CFTR mutations-Elevated levels of serum trypsinogen Abnormal difference in voltage potential reflects CFT

Abnormal differences in voltage potential across the nasal epithelium

Infant Screening-Failure to gain weight, Bronchiectasis, Recurrent Pancreatitis

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24
Q

Sweat Chloride Test

A
  • Sodium Chloride concentration in sweat are abnormally high in CF
  • Glands microscopically normal but secrete up to four times normal amount NaCl
  • Test used to measure electrolyte concentration of sweat
  • Stimulation of sweat production over forearm by applying sweat stimulating solution and placing electrode on it to induce current
  • A small amount of a colorless odorless sweat producing chemical is applied to the patient’s arm. An electrode is attached to the chemically prepared area, and a mild electric current is applied to stimulate sweat production.
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25
Q

Sweat Chloride Test in Infants 6 months or younger

A

o ≤29 mmol/L: Normal (CF very unlikely)
o 30 to 59 mmol/L: Intermediate (Possible CF)
o ≥60 mmol/L: Abnormal (CF Diagnosis)

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26
Q

Sweat Chloride Test >6 months

A

o ≤39 mmol/L: Normal (CF very unlikely)
o 40 to 59 mmol/L: Intermediate (Possible CF)
≥60 mmol/L: Abnormal (CF Diagnosis)

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27
Q

Blood Test in CF

A

Complete blood count (CBC)- Elevated hemoglobin concentration and hematocrit

Increased white cells with superimposed infections

28
Q

CF CXR

A
  • Translucent (dark) lung fields
  • Depressed or flattened diaphragms
  • Right ventricular enlargement
  • Areas of atelectasis and fibrosis
  • Pneumothorax (spontaneous)
  • Abscess formation (occasionally)
  • Cor pulmonale
  • Air trapping
  • Constant infection
29
Q

Airway Clearance in CF

A

Percussion and postural drainage
Positive expiratory pressure
Autogenic drainage

Autocycle of breathing technique

Oscillatory positive expiratory pressure- A device that will transmit vibrations throughout the airway

High-frequency chest compression.

30
Q

DEOXYRIBONUCLEASE

A

As a result of the cellular debris from chronic infection and inflammation, there is free DNA in the airways that contributes to the viscosity of secretions.
• To treat this, inhaled recombinant deoxyribonuclease (DNase) is used to degrade the viscous DNA.
• The routine daily use of inhaled DNase has been shown to improve pulmonary function and reduce exacerbations in patients with CF.
• Inhaled DNase is recommended for daily use in patients 6 years of age and older.

31
Q

HYPERTONIC SALINE

A

• Inhaled hypertonic saline also commonly used
o Used with small vol nebs
o Makes secretions less thick, easier to cough up
• Nebulized 7% hypertonic saline is thought to improve mucociliary clearance and has been shown to improve lung function and reduce exacerbations.
• Nebulized 7% hypertonic saline is currently recommended for twice-daily use in patients 6 years and older.

32
Q

Ibuprofen in CF

A

High doses of the antiinflammatory drug ibuprofen, when used at doses resulting in appropriate levels, reduce the progression of CF lung disease and is recommended for use in children 6 to 17 years of age with a forced expiratory volume in 1 second greater than 60% predicted

33
Q

N-Acetyl-cystenine

A

Mucomyst

Helps people to cough up secretions

34
Q

Azithromycin

A

The regular use of azithromycin, possibly through its anti-inflammatory and antimicrobial properties, helps preserve lung function and decreases the frequency of pulmonary exacerbations.

Azithromycin is recommended in patients 6 years and older.

Patients taking azithromycin should be monitored for the acquisition of nontuberculous mycobacteria, at which time their azithromycin monotherapy should be discontinued

35
Q

Antibotics

A

• CF patient’s lungs are chronically colonized with bacteria and P.Aeruginosa has been associated with rapid decline in lung function and decreased survival, inhaled antibotics are directed against this organism and are recommended for eradiation and chronic suppression
o Currently there is two inhaled antibotics
 Tobramycin
• Directly treats p. aeruginosa
 Aztreonam

36
Q

Other CF Treatments

A

Lung transplantation

Pancreatic enzyme supplementation and vitamin supplementation to help with malabsorption

Bronchoscopy=Either diagnostic or for bronchohygiene

Diet changes

Mediated Gene transfer

37
Q

What causes the thick secretions in cystic fibrosis?

A

The disruption of the chloride transport causes the thick secretions in cystic fibrosis. Sodium is absorbed in the airways, pancreas, and bile ducts.

38
Q

Which ethnicity is mostly like to be a carrier of the Cystic Fibrosis Transmembrane (CFTR) gene?

A

Caucasian/white people are most likely to be the carrier of this gene.

39
Q

What two infections do we mainly see present in cystic fibrosis?

A

Staphylococcus Aureus and Pseudomonas.

40
Q

How many positive results should one have to be diagnosed as suffering from cystic fibrosis?

A

Two positive results.

41
Q

What are the common signs and symptoms of cystic fibrosis?

A

Salty sweat, residue on skin and/or clothes, abdominal distention and cramping, fatty stools and malnutrition even with ravenous appetite (FTT). Pulmonary indications include advanced chronic obstructive pulmonary disease (COPD), hypercapnia and severe hypoxemia when the disease is very advanced.

42
Q

What is the typical arterial blood gas (ABG)’s for a patient with cystic fibrosis?

A

A mixed of respiratory acidosis and metabolic alkalosis is the typical ABG of cystic fibrosis.

43
Q

What kind of disease is cystic fibrosis?

A

It is an inherited obstructive disease.

44
Q

What condition do patients with cystic fibrosis have on their fingers and toes?

A

Clubbing of the fingers and toes are present on patients with cystic fibrosis.

45
Q

What is the cause of clubbing?

A

Clubbing is mainly caused by chronically low levels of oxygen.

46
Q

A cystic fibrosis patient appears malnourished even on what kind of diet?

A

A high-calorie diet.

47
Q

Lung infections with Pseudomonas aeruginosa are most often treated with this antibiotic. What is the name of this antibiotic?

A

Tobramycin (TOBI)

48
Q

What is the percussion note of the cystic fibrosis patient?

A

Hyper-resonant percussion note.

49
Q

What are typical breath sounds of cystic fibrosis patient?

A

Rales (crackles)

50
Q

Vocal and tactile fremitus is related to trapped air. Trapped air causes tactile and vocal fremitus to be?

A

Decreased

51
Q

What are the side effects of oral corticosteroids, a steroid used among children with persistent severe asthma?

A

Glucose intolerance should be monitored as it may lead to overt cystic fibrosis-related diabetes. Growth failure and hypertension are other side effects of this.

52
Q

What is the result of impaired Cl (chloride) – flow due to the defective chloride ions and their ability to flow across membranes?

A

Disordered secretion and reabsorption resulting in higher than normal chloride levels in sweat and thicker than normal mucus in respiratory tract, gastrointestinal tract, pancreatic ducts, bile ducts and reproductive tract.

53
Q

What cellular mechanism takes place within the sweat glands of cystic fibrosis patients?

A

There is an inhibited chloride reabsorption that results in inhibited sodium reabsorption which makes sweat saltier than normal.

54
Q

Why does a patient with cystic fibrosis have saltier sweat?

A

Sweat is usually mostly water, as chloride and sodium ions are normally reabsorbed. Human have no water pumps, therefore water is released from the body as it follows the chloride and sodium ions, entering the duct of the sweat gland, making sweat start out as an isotonic saline solution. The CFTR (cystic fibrosis transmembrane conductance regulator) channel is involved in the reabsorption of those chloride ions, causing the sodium ions to follow and be reabsorbed as well. However, in an individual with cystic fibrosis, the CFTR channel no longer works properly. It inhibits the chloride and sodium ions from being reabsorbed, and therefore causing them to be released in sweat that makes it saltier.

55
Q

What is the typical body osmolarity?

A

Around 300 mosm/L = 150 mmol/L

56
Q

How would you explain the “low-volume” model as a result of cystic fibrosis?

A

In the “low-volume” model, the chloride channel is involved in chloride outflow into the mucus that somewhat traps the sodium and water, retaining its fluidity. Normally, a significant amount of chloride remains in the mucus, causing sodium and water to remain in the mucus. In the cystic fibrosis patient, there are not enough chloride outflows into the mucus. This results in less negative charge that is capable of keeping the sodium and water in the mucus, thus, causing the mucus to thicken and lose its fluidity.

57
Q

What happens in the lungs as a result of thickened mucus?

A

Bronchiectasis is a result of thickened mucus that stays in the bronchioles and physically pushes them open, distending them and causing them to widen. The result is permanent and eventually leads to fibrosis of these bronchioles. Pulmonary infections is also a result of thickened mucus that remains in the lungs instead of moving up and out, causing a breeding ground for infectious bacteria like pseudomonas, staphylococcus, and haemophilus families.

58
Q

How does mucous affect cilia?

A

Flattens the cilia

59
Q

How are lungs affected by cystic fibrosis?

A

Decreased chloride secretion from epithelial lining cells in the airway lumen cause thinning of liquid lining surface of the airway leading to impaired mucociliary clearance. This leads to chronic infections, bronchiectasis, bronchiolectasis, bronchial stenosis, fibrosis, and mucous plugging.

60
Q

How is cystic fibrosis manifested in the lungs? How does it progress as the patient get older? What is the primary pathogen with cystic fibrosis?

A

Cystic fibrosis is manifested in lungs as acute exacerbations that include cough, dyspnea, decreased exercise tolerance, fatigue, and increased sputum production. This leads to accelerated permanent loss of lung function.
Pulmonary function is often preserved until adolescence. A steep decline can occur at this point. By late adolescence, most patients have a daily productive cough.
Airway infection with pseudomonas aeruginosa is the primary pathogen. Staphylococcus aureus and methicillin resistant Staph aureus are also common. Other lung pathogens include allergic bronchopulmonary mycoses, and nontuberculous mycobacterial infections.

61
Q

How are sinuses affected by cystic fibrosis?

A

Sinues and nasal polys

62
Q

What mucolytic agents are given for cystic fibrosis?

A

Dornase alfa and hypertonic saline.

63
Q

What is the brand name for dornase alfa?

A

Pulmozyme.

64
Q

How does Pulmozyme work?

A

It breaks down extracellular DNA, decreased mucus viscosity and increased expectoration of mucus.

65
Q

What is the pathophysiology of cystic fibrosis?

A

Mutation in chloride transport leading to thick secretions from the exocrine glands and blockage of secretory ducts.