Cystic Fibrosis Flashcards
What is cystic fibrosis ?
inherited autosomal recessive disease characterized by increased viscosity of mucus gland secretions and elevation of sweat electrolytes
What is the first manifestation of cystic fibrosis ?
meconium ileus
- small intestine is blocked with thick puttylike, tenacious, mucilaginous meconium
How is the pancreas affected ?
there is a blockage of pancreatic enzymes from reaching duodenum resulted in impaired absorption of nutrients
- bulky, frothy, stools with undigested fat (steatorrhea) foul smelling proteins (azotorrhea)
- increases incidence of CF related diabetes
What are some S&S of CF ?
- fatigue
- chronic cough
- recurrent URIs
- thick, sticky mucus
- chronic hypoxia: clubbing, barrel chest
- decreased absorption of vitamins and enzymes
- abdominal distention
- rectal prolapse
- fatty, stinky stool (steatorrhea)
- decreased digestive enzymes
- meconium ileus in newborns
How are the sweat electrolytes affected ?
elevation of sweat electrolytes
- sodium and chloride in sweat and saliva
- primarily abnormal chloride movement
Why does prolapse rectum occur ?
because of large bulky stool
- malabsorption and increased intra-abdominal pressure (2ndary to paroxysmal cough)
How is the female reproductive system affected ?
- fertility inhibited by viscous cervical secretions
- blocks sperm
- once pregnant at risk for preterm labor and low infant birth weight
- favorable nutritional status and pulmonary function correlate with favorable pregnancy
How is the male reproductive system affected ?
- most are sterile (possibly due to blockage of vas deferens)
- results in decreased sperm production
What is some diagnostic studies ?
- CF newborn screen (required by law)
- pulmonary function testing
- stool analysis (72 hr sample with accurate recording of food intake & radiograph with contrast enema for diagnosis of meconium ileus)
How is the CF newborn screening performed ?
immunoreactive trypsinogen (IRT) analysis
- performed on dried blood and may be followed by direct analysis of DNA for presence of Delta F508 mutation
- (+) test isn’t official diagnosis but instead identifies risk
- can be diagnosed in utero by detection of 2 CF mutations in fetus
What are normal sweat chloride levels and what is found in CF pt’s ?
- normal: < 40
- CF: > 60
- 40-59 is indeterminate and need to repeat test in 1-2 months
What are some unique characteristics in CF pt’s ?
- high sodium and chloride in sweat
- parents report kid tastes “salty” when kissed
- chest x-ray shows patchy atelectasis and obstructive emphysema
How is a sweat chloride test done ?
stimulates production of sweat using 3mA electric current
- collects sweat on filter paper and measuring sweat electrolytes
- requires 2 samples for reliability
What are some pulmonary management methods ?
airway clearance therapies
- percussion and postural drainage: 2x per day (morn/evening), do not perform before or immediately after meal
- positive expiratory pressure (PEP)
- active cycle of breathing technique: forced exhale or “huffing”
- autogenic drainage
- oscillatory PEP: kid wears vest
- high frequency chest compressions and exercise
- metaneb
Why may saline irrigation be used ?
helps remove thick nasal secretions to reduce chronic sinusitis
How are nasal polyps managed ?
develops in 2/3 of pt’s related to chronic inflammation
- tx with inhaled corticosteroids, decongestants and mucolytics
- surgical intervention if other treatments not successful
How is blood streaking in sputum managed ?
(small thin streaks can be normal)
- associated with increased pulmonary infection
- potentially life-threatening event that requires immediate treatment
- bedrest, IV conjugated estrogens (premarin), vasopressin (Pitressin), vitamin K, fresh-frozen plasma, cauterization/embolization via bronchoscopy
- severe cases may require lung resection
What are some S&S of pulmonary complications ?
accumulation of air in the pleural space
- hypotension
- decreased O2 saturations
- dyspnea, labored breathing
- pain
- tachycardia
- absent breath sounds on affected side
What are some pulmonary labs for complications ?
- PFTs: monitor frequently and 2x a week in hospital
- CBC
- BPM
- sputum culture
- chest x-ray: if worried about pneumothorax
- if on antibiotics then liver and kidney functions
What are some GI complications with CF ?
- mucus sits and blocks important pathways
- pancreatic insufficiency: pancreatitis
- malabsorption of nutrients
- bowel obstruction
- steatorrhea
- rectal prolapse
- liver and gallbladder damage
- cystic fibrosis related diabetes (CFRD)
How are pancreatic enzymes replaced ?
- administered with meals and snacks
- amount of enzymes depends on severity
- usually 1-5 capsules with meals (smaller amount with snacks)
- goal is to obtain normal growth and to decrease number of stools to 1 or 2 per day
- enteric beads should not be chewed or crushed
How is a high-protein, high calorie diet implemented with infants ?
- breast fed: continue as long as possible and supplement with high calorie formula if needed
- formula fed: cow milk formula is usually adequate
- uptake fat soluble vitamins ADEK is decreased
What do Pancrealipase (creon) and Zenpep do ?
pancreatic enzymes
- assist in digestion of nutrients, decreasing fat and bulk
- given prior to all meals and snacks
Why do pt’s with CF take multivitamins (ADEK) ?
cystic fibrosis interferes with vitamin absorption
- supplements are required in water soluble form for better absorption
Why do pt’s with CF need salt ?
replacement therapy
- since they are sweating so much out
How is cystic fibrosis related diabetes managed ?
insulin resistance and insulin deficiency
- requires close monitoring of glucose levels
- check 3x daily
- need oral glucose lowering agents or insulin
- diet and exercise management needed
- incidence increases with age
- microvascular complications: retinopathy and nephropathy
Should a pt with CF be on strict bedrest ?
no because you want them moving around to help loosen/remove the secretions
What does family planning look like for pt’s with CF ?
- male sterile (not impotent)
- females: increased respiratory issues during pregnancy
- kids will be carriers of CF gene mutation
- encourage setting of life goals
- prepare for end of life decisions when appropriate
- allow space for anticipatory grieving
Where is the gene located that is responsible for CF ?
chromosome 7
- alters the function of the glycoprotein CF transmembrane conductance regulate (CFTR)
What does the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) regulate ?
regulates the chloride and sodium channels at the surface of spithelial cells
How do pulmonary symptoms progress ?
- initial: wheezing, dry nonproductive cough
- progressing: increased dyspnea, productive cough, obstructive emphysema
- severe: overinflated lungs, barrel shaped chest, cyanosis, clubbing, repeated episodes of bronchitis and bronchopneumonia
