Cystic Fibrosis Flashcards
1
Q
Cystic Fibrosis
A
- Progressive, life-limiting, genetic disorder
- Autosomal recessive
- More than half of CF population >= 18 y.o.
2
Q
Pathophysiology
A
- Mutation of CFTR gene causing CFTR protein to dysfunction
- Regulates chloride transport across cell membrane
- Without cholride, mucus becomes thick and sticky
3
Q
CF Mutations
A
- Different mutations result in different levels of CFTR function
- > 2000 mutations
- F508del - most common mutation
- Protein misfolded and doesn’t reach cell surface
4
Q
CF Diagnosis
A
- Newborn screening: measures immunoreactive trypsinogen, chemical made by pancreas
- Gold standard: sweat test, sample of sweat collected from skin (Positive >=60 mmol/L of chloride)
- Chromosomal analysis
5
Q
CF Involved Organ Systems
A
- GI
- Hepatic
- Pulmonary
- Reproductive
- Bone
6
Q
Signs/Symptoms
A
- Poor growth/weight gain
- Meconium ileus
- Frequent greasy, bulky stools OR difficulty in bowel
- Frequent lung infections
- Wheezing/SoB
- Persistent coughing, occasional sputum
- Chronic sinusitis
- Very salty skin
- Male infertility
- Nasal polyps
7
Q
GI Goals
A
- Control pancreatic insufficiency by providing adequate enzyme supplementation
- Optimize growth and nutritional status
- Promote healthy bowel habits
- Maintain normal vitamin levels
8
Q
GI Tract Manifestations
A
- Insufficient secretion of pancreatic enzymes
- Fat-soluble vitamin malabsorption
- Insulin deficiency
- Intestinal obstruction: meconium ileus, DIOS
9
Q
Pancreatic Insufficiency
A
- Maldigestion of nutrients
- Symptoms: steatorrhea, frequent loose stools, flatulence, cramping, bloating, poor weight gain constipation
- Below age-related norms of weight AND height
- Result of pancreatic enzyme deficiency
10
Q
PERT
A
- Pancreatic Enzyme Replacement Therapy
- Creon, Zenpep, Pancreaze, Ultresa, etc
- Contain lipase, protease, amylase
- Enzyme brands aren’t interchangeable
- DR capsules with enteric-coated microspheres or minitablets
- Porcine derived
11
Q
PERT Dosing
A
- Based on TBW or fat ingested
- Dosed on lipase units
- Taken with every meal and snack
Dosing Options
- 500-2500 units/kg/meal
- 10,000 units/kg/day
- 4,000 units/g of dietary fat/day
12
Q
PERT Capsules
A
- Do not crush or chew contents of DR capsules
- Can open capsule and add to room temperature, acidic foods (applesauce)
- Must eat immediately and follow with water, juice, formula, breast milk
- Regular release tablets are swallowed whole with sufficient liquid
13
Q
PERT AE
A
- Mucosal irritations
- Fibrosing colonopathy and colonic strictures (high doses > 6000 lipase units/kg/meal): diarrhea, constipation, abdominal pain
14
Q
PERT Monitoring
A
- Stool fat content
- Abdominal symptoms
- Nutritional intake
- Growth
15
Q
Fat Soluble Vitamins
A
- Replace A, D, E, and K
- Doses higher compared to those without CF
16
Q
Nutritional Intake
A
- Energy intakes can be greater than standard for general population
- BMI >50-85% for age
- May require nutritional supplementations like EN
- Promotes healthy pulmonary function
17
Q
Insulin Deficiency
A
- CF related diabetes
- Prevalence increases with age
- Associated with worse lung fxn, poorer nutritional status, increased pulm. infections
- Shares features of DM I and II
- Treat with insulin
18
Q
DIOS
A
- Distal intestinal obstruction syndrome
- Symptoms: cramping abdominal pain, poor appetite, abdominal distension
- Therapy: electrolytes lavage solutions: passage of stool being symptom resolution
