Respiratory system Flashcards
What is the most common inherited genetic disease in white people?
Cystic Fibrosis
What is the etiology of cystic fibrosis?
- autosomal recessive
- spontaneous mutation
Which chromosome carries the defect for cystic fibrosis?
Chromosome 7
What happens in cystic fibrosis?
the defective gene allows chloride to pass in and out of the plasma membrane of epithelial cells (kidney, gut, airways). salt accumulates in the cells lining the lungs and digestive tissues making mucus abnormally thick and sticky.
-leads to: - dehydrated and increased viscosity of mucous gland secretion. - elevation of sweat electrolytes (NaCl). - pancreatic enzyme insufficiency.
What is the clinical manifestation of cystic fibrosis?
- variable
- access to healthcare decreases severity
- abnormally high sodium and chloride concentration in sweat
What are the pancreatic symptoms of cystic fibrosis?
- thick secretions block pancreatic ducts
- eventual fibrosis
- prevents pancreatic enzymes from reaching duodenum leading to impaired digestion and absorption of nutrients. (lower intake of nutrients)
- bulky, frothy, malodorus stool
What percentage of people with CF will have pancreatic symptoms?
80-90%
What is Meconium ileus?
baby’s first poo
What does meconium ileus have to do with CF?
it is a GI symptom and is extra thick that they can’t get out
What are the GI symptom of CF?
- prolapse of the rectum
- intestinal obstruction from thick, dry stool
- poor nutrition
- weight loss
- growth retardation
What are the pulmonary symptoms of CF?
- chronic cough
- purulent sputum (causes chronic infections)
- mucus is an excellent medium for bacterial growth
- hypoxia
- clubbing
- cyanosis
- chronic pulmonary infection
- barrel chest
- pectus carinatum
- kyphosis
- respiratory failure
What is universal in all men with CF?
they are infertile. also common in women
What are the musculoskeletal symptoms of CF?
- mm pain
- decreased bone density
How is CF diagnosed?
- genetic testing
- clinical presentation
- sweat test
- pancreatic enzyme tests
- pulmonary function test
What is the tx for CF?
- variable depending on systems involved
- antibiotics
- meds
- chest physio
- adequate nutrition
- supplementation
- lung transplant
Will CF progress to a new lung if a lung transplant occurs?
yes
What is the prognosis for CF?
- improving
- median survival rate = 37 yrs old
What is a bronchogenic cyst?
- a rare birth condition
- a cyst in the middle of the chest near the carina
- can be asymptomatic
Describe the bronchogenic cyst
- extrapulmonary
- fluid filled mass lined with respiratory epithelium and limited by walls that contain mm and cartilage.
Where is the most common location for a bronchogenic cyst?
middle of the mediastinum
What does a bronchogenic cyst do in a newborn?
compresses a major artery and cause respiratory distress
What is an extralobar sequestration?
-a chunk of lung tissue not connected to bronchial tree
Is an extralobar sequestration congenital or acquired?
congential
Where is the extralobar sequestration located?
outside the visceral pleura