BLOCK 5 - EXAM 1 CONTENT (- UIZ 1) | TOP SCORES
MADE SIMPLE | TRUSTED TEST SOLUTIONS!
CFTR Answer: cystic fibrosis transmembrane conductance regulator
- Forms a transmembrane domain (channel ) through which chloride passes
What protein form a transmembrane domain (channel ) through which chloride passes
Answer: CFTR
CFTR gene chromosomal location Answer: Chromosome 7
Defects in CFTR results in; Answer: Cystic fibrosis (CF)
- Lack of Cl- transport
Cystic fibrosis (CF) Answer: hereditary disorder of the exocrine glands characterized by
excess mucus production in the respiratory tract, pancreatic deficiency, and other
symptoms
- disorder of epithelial chloride channel protein CFTR i
disorder of epithelial chloride channel protein CFTR i Answer: Cystic fibrosis (CF)
hereditary disorder of the exocrine glands characterized by excess mucus production in
the respiratory tract, pancreatic deficiency, and other symptoms
- disorder of epithelial chloride channel protein CFTR i Answer: Cystic fibrosis (CF)
Class I CFTR Mutation Answer: defective protein synthesis - no protein
What CFTR mutation results in defective protein synthesis - no protein Answer: Class I
CFTR Mutation
Class II CFTR mutation Answer: Abnormal protein folding, processing and trafficking
due to deletion of three phenylalanines) ~70% of all cases, ΔF508 mutation
What CFTR mutation results in abnormal protein folding, processing and trafficking due
to deletion of three phenylalanines) ~70% of all cases, ΔF508 mutation Answer: Class
II CFTR mutation
Class III CFTR mutation Answer: defective regulation by ATP - no function
What CFTR mutation results in defective regulation by ATP - no function Answer: Class
III CFTR mutation
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,Class IV CFTR mutation Answer: decreased conductance - less function, mild
phenotype
What CFTR mutation results in decreased conductance - less function, mild phenotype
Answer: Class IV CFTR mutation
Class V CFTR mutation Answer: reduced abundance - less protein, mild phenotype
What CFTR mutation results in reduced abundance - less protein, mild phenotype
Answer: Class V CFTR mutation
Class VI CFTR mutation Answer: altered function in regulation of other ion channels -
fail to regulate HCO3 - channel
What CFTR mutation results in
altered function in regulation of other ion channels - fail to regulate HCO3 - channel
Answer: Class VI CFTR mutation
Skin sweat gland ducts are responsible for salt [absorption/secretion] Answer: salt
absorption
Respiratory, GI, and Repro cells are for salt [absorption/secretion] Answer: Salt
secretion
Cystic fibrosis effect on sweat glands Answer: CFTR is mutated: Cl- stays outside the
cell on the skin
- Na+ stays on the skin surface with Cl
- NaCl remains in the duct → sweat is hypertonic (salty)
Function of CFTR in sweat glands Answer: Absorb salt from the duct → make sweat
hypotonic → easier to evaporate for body cooling
CFTR is mutated: Cl- stays outside the cell on the skin
- Na+ stays on the skin surface with Cl
- NaCl remains in the duct → sweat is hypertonic (salty) Answer: Cystic fibrosis effect
on sweat glands
Cystic fibrosis results in [hypo/hyper]tonic sweat Answer: Hypertonic sweat
- CFTR is mutated: Cl- stays outside the cell on the skin
- Na+ stays on the skin surface with Cl
- NaCl remains in the duct → Sweat is hypertonic (salty)
2
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,Cystic fibrosis effect other epithelia (other their sweat glands) Answer: CFTR is
mutated: Cl- is not secreted
- Na+ and water move inside and stay with Cl
- Mucus is dehydrated and thick, difficult to be removed by mucocilliary transport →
obstruction and inflammation
CFTR is mutated: Cl- is not secreted
- Na+ and water move inside and stay with Cl
- Mucus is dehydrated and thick, difficult to be removed by mucocilliary transport →
obstruction and inflammation Answer: Cystic fibrosis effect other epithelia (other their
sweat glands)
CFTR effect on other epithelia (other their sweat glands) Answer: Allows for the
secretion of Cl- to the lumen
- Na+ stays with Cl- in the lumen
- ↑NaCl and water in the mucus
- Result: mucus is well hydrated, easily removable by mucocilliary transpor
Clinical features of the cystic fibrosis Answer: - Nasal polyps, chronic sinusitis
- Airway obstruction: wheezing and air trapping
- Chronic cough and sputum production
- Recurrent pneumonia, fibrosis, chronic bronchitis
- Chest x-ray abnormalities: bronchiectasis,
atelectasis, infiltrates, hyperinflation
- Digital clubbing
- Nasal polyps, chronic sinusitis
- Airway obstruction: wheezing and air trapping
- Chronic cough and sputum production
- Recurrent pneumonia, fibrosis, chronic bronchitis
- Chest x-ray abnormalities: bronchiectasis,
atelectasis, infiltrates, hyperinflation
- Digital clubbing
3
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, Clinical features of? Answer: Cystic fibrosis
Cystic fibrosis is an [obstructive/restrictive] pulmonary disease Answer: obstructive
pulmonary disease
Cystic fibrosis increases susceptibility to what pathogen in kids Answer:
Staphylococcus aureus
Cystic fibrosis increases susceptibility to what pathogen in adults Answer:
Pseudomonas aureginosa
Intensive mucus plugging - dilation of the tracheobronchial tree - both secretions and
pneumonia in pulmonary parenchyma Answer: Cystic fibrosis
Green colored lungs seen in patient that had cystic fibrosis. What is cause Answer:
Pseudomonas infections
CF tissue secretes [normal/acidic] fluid Answer: acidic fluid
- CFTR increases bicarbonate secretion
Pathogenesis of pancreatic disease in CF Answer: Cystic fibrosis:
- ↓H2O, ↓NaCl, ↓HCO3 - → small amount of acidic fluid → precipitation of the enzymes
→ obstruction of the duct → pancreatic damage
Vitamin deficiencies cause by cystic fibrosis Answer: Deficiency of fat-soluble vitamins:
A, D, E, and K
Vit A deficiency Answer: Metaplasia of columnar epithelia of the conjunctiva,
respiratory, urinary tract, and pancreas to a squamous epithelia (squamous metaplasia)
- Caused by cystic fibrosis
Metaplasia of columnar epithelia of the conjunctiva, respiratory, urinary tract, and
pancreas to a squamous epithelia (squamous metaplasia) is caused by what vitamin
deficiency? Answer: Vit A deficiency
Vit D deficiency Answer: Decreased bone mineral density, rickets, or osteomalacia
- Caused by cystic fibrosis
Decreased bone mineral density, rickets, or osteomalacia is caused by what vitamin
deficiency? Answer: Vit D deficiency
Vit K deficiency Answer: coagulopathy
- Caused by cystic fibrosis
Coagulopathy is caused by what vitamin deficiency Answer: Vit K deficiency
4
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MADE SIMPLE | TRUSTED TEST SOLUTIONS!
CFTR Answer: cystic fibrosis transmembrane conductance regulator
- Forms a transmembrane domain (channel ) through which chloride passes
What protein form a transmembrane domain (channel ) through which chloride passes
Answer: CFTR
CFTR gene chromosomal location Answer: Chromosome 7
Defects in CFTR results in; Answer: Cystic fibrosis (CF)
- Lack of Cl- transport
Cystic fibrosis (CF) Answer: hereditary disorder of the exocrine glands characterized by
excess mucus production in the respiratory tract, pancreatic deficiency, and other
symptoms
- disorder of epithelial chloride channel protein CFTR i
disorder of epithelial chloride channel protein CFTR i Answer: Cystic fibrosis (CF)
hereditary disorder of the exocrine glands characterized by excess mucus production in
the respiratory tract, pancreatic deficiency, and other symptoms
- disorder of epithelial chloride channel protein CFTR i Answer: Cystic fibrosis (CF)
Class I CFTR Mutation Answer: defective protein synthesis - no protein
What CFTR mutation results in defective protein synthesis - no protein Answer: Class I
CFTR Mutation
Class II CFTR mutation Answer: Abnormal protein folding, processing and trafficking
due to deletion of three phenylalanines) ~70% of all cases, ΔF508 mutation
What CFTR mutation results in abnormal protein folding, processing and trafficking due
to deletion of three phenylalanines) ~70% of all cases, ΔF508 mutation Answer: Class
II CFTR mutation
Class III CFTR mutation Answer: defective regulation by ATP - no function
What CFTR mutation results in defective regulation by ATP - no function Answer: Class
III CFTR mutation
1
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,Class IV CFTR mutation Answer: decreased conductance - less function, mild
phenotype
What CFTR mutation results in decreased conductance - less function, mild phenotype
Answer: Class IV CFTR mutation
Class V CFTR mutation Answer: reduced abundance - less protein, mild phenotype
What CFTR mutation results in reduced abundance - less protein, mild phenotype
Answer: Class V CFTR mutation
Class VI CFTR mutation Answer: altered function in regulation of other ion channels -
fail to regulate HCO3 - channel
What CFTR mutation results in
altered function in regulation of other ion channels - fail to regulate HCO3 - channel
Answer: Class VI CFTR mutation
Skin sweat gland ducts are responsible for salt [absorption/secretion] Answer: salt
absorption
Respiratory, GI, and Repro cells are for salt [absorption/secretion] Answer: Salt
secretion
Cystic fibrosis effect on sweat glands Answer: CFTR is mutated: Cl- stays outside the
cell on the skin
- Na+ stays on the skin surface with Cl
- NaCl remains in the duct → sweat is hypertonic (salty)
Function of CFTR in sweat glands Answer: Absorb salt from the duct → make sweat
hypotonic → easier to evaporate for body cooling
CFTR is mutated: Cl- stays outside the cell on the skin
- Na+ stays on the skin surface with Cl
- NaCl remains in the duct → sweat is hypertonic (salty) Answer: Cystic fibrosis effect
on sweat glands
Cystic fibrosis results in [hypo/hyper]tonic sweat Answer: Hypertonic sweat
- CFTR is mutated: Cl- stays outside the cell on the skin
- Na+ stays on the skin surface with Cl
- NaCl remains in the duct → Sweat is hypertonic (salty)
2
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,Cystic fibrosis effect other epithelia (other their sweat glands) Answer: CFTR is
mutated: Cl- is not secreted
- Na+ and water move inside and stay with Cl
- Mucus is dehydrated and thick, difficult to be removed by mucocilliary transport →
obstruction and inflammation
CFTR is mutated: Cl- is not secreted
- Na+ and water move inside and stay with Cl
- Mucus is dehydrated and thick, difficult to be removed by mucocilliary transport →
obstruction and inflammation Answer: Cystic fibrosis effect other epithelia (other their
sweat glands)
CFTR effect on other epithelia (other their sweat glands) Answer: Allows for the
secretion of Cl- to the lumen
- Na+ stays with Cl- in the lumen
- ↑NaCl and water in the mucus
- Result: mucus is well hydrated, easily removable by mucocilliary transpor
Clinical features of the cystic fibrosis Answer: - Nasal polyps, chronic sinusitis
- Airway obstruction: wheezing and air trapping
- Chronic cough and sputum production
- Recurrent pneumonia, fibrosis, chronic bronchitis
- Chest x-ray abnormalities: bronchiectasis,
atelectasis, infiltrates, hyperinflation
- Digital clubbing
- Nasal polyps, chronic sinusitis
- Airway obstruction: wheezing and air trapping
- Chronic cough and sputum production
- Recurrent pneumonia, fibrosis, chronic bronchitis
- Chest x-ray abnormalities: bronchiectasis,
atelectasis, infiltrates, hyperinflation
- Digital clubbing
3
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, Clinical features of? Answer: Cystic fibrosis
Cystic fibrosis is an [obstructive/restrictive] pulmonary disease Answer: obstructive
pulmonary disease
Cystic fibrosis increases susceptibility to what pathogen in kids Answer:
Staphylococcus aureus
Cystic fibrosis increases susceptibility to what pathogen in adults Answer:
Pseudomonas aureginosa
Intensive mucus plugging - dilation of the tracheobronchial tree - both secretions and
pneumonia in pulmonary parenchyma Answer: Cystic fibrosis
Green colored lungs seen in patient that had cystic fibrosis. What is cause Answer:
Pseudomonas infections
CF tissue secretes [normal/acidic] fluid Answer: acidic fluid
- CFTR increases bicarbonate secretion
Pathogenesis of pancreatic disease in CF Answer: Cystic fibrosis:
- ↓H2O, ↓NaCl, ↓HCO3 - → small amount of acidic fluid → precipitation of the enzymes
→ obstruction of the duct → pancreatic damage
Vitamin deficiencies cause by cystic fibrosis Answer: Deficiency of fat-soluble vitamins:
A, D, E, and K
Vit A deficiency Answer: Metaplasia of columnar epithelia of the conjunctiva,
respiratory, urinary tract, and pancreas to a squamous epithelia (squamous metaplasia)
- Caused by cystic fibrosis
Metaplasia of columnar epithelia of the conjunctiva, respiratory, urinary tract, and
pancreas to a squamous epithelia (squamous metaplasia) is caused by what vitamin
deficiency? Answer: Vit A deficiency
Vit D deficiency Answer: Decreased bone mineral density, rickets, or osteomalacia
- Caused by cystic fibrosis
Decreased bone mineral density, rickets, or osteomalacia is caused by what vitamin
deficiency? Answer: Vit D deficiency
Vit K deficiency Answer: coagulopathy
- Caused by cystic fibrosis
Coagulopathy is caused by what vitamin deficiency Answer: Vit K deficiency
4
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