Cystic Fibrosis Flashcards
What is Cystic Fibrosis?
A progressive, life-limiting genetic disorder
Over half of the CF population is greater than 18 years of age
Cystic Fibrosis is an autosomal, recessive disease. What does this mean?
It means that both parents carry the mutation
CF Pathophysiology
Mutation of the CF gene causes the CF protein to malfunction. When this gene malfunctions, chloride is unable to be transported across the cell membrane. Without chloride, mucus becomes thick and sticky
How many different CF mutations are there?
There are over 2000 different mutations, each with their own level of malfunction. F508 is the most common, the protein is misfolded and doesn’t reach the cell surface
Cystic Fibrosis Diagnosis
- Immunoreactive trypsinogen is measured. This is a chemical made by the pancreas
- Sweat test is done and chloride is measured. If its greater than 60 mmol/l, it is considered positive
- Chromosomal analysis
Organ systems involved with Cystic Fibrosis
- Gastrointestinal system
- Hepatic system
- Pulmonary system
- Reproductive system
- Bone disease
Cystic Fibrosis Possible patient signs and symptoms
- Poor growth or weight gain
- Frequent, bulky greasy stools or poor bowel movement
- Lung infections
- Wheezing or coughing
- Nasal polyps
- Male infertility
- Salty skin
What are the 2 categories of Cystic Fibrosis Pharmacological Therapy?
- Acute exacerbation therapy
2. Chronic therapy
Gastrointestinal system: Goals of therapy
- Control pancreatic insufficiency by giving enzyme supplementation
- Maintain normal bowel movements
- Promote growth and nutrition
- Maintain normal vitamin levels
Gastrointestinal tract manifestations
- Pancreatic enzyme insufficiency
- Fat-soluble vitamin malabsorption
- Insulin deficiency
- Intestinal obstruction
Meconium ileus
Distal intestinal obstruction syndrome
What exactly is pancreatic insufficiency?
- Maldigestion of nutrients
- Symptoms: Steatorrhea, frequent, bulky stools, cramping, bloating, poor weight gain
- Below age related norms for weight and height
Pancreatic Enzyme Replacement Therapy
Products: Ultressa, Pertzye, Zenpep, Creon, Pancreaze, Viokace. These contain amylase, protease, and amylase
Enzyme brands are not interchangeable
Products are porcine derived
Delayed release capsules contain enteric coated microspheres
Pancreatic enzyme Insufficiency Dosing
-Based on total body weight or fat ingested
-Based on lipase units
500-2500 units/kg/meal
10000 units/kg/day
4000 units/g of dietary fat/day
Taken with every meal and snack
Pancreatic insufficiency: Delayed Release Capsules
- Cannot be broken or chewed
- Can be popped open and added to room temperature, acidic food like apple sauce. Can also be taken with water, juice, or breast milk
Pancreatic insufficiency: Tablets
-Should be taken completely whole. Can be taken with liquids like water or juice
Pancreatic Enzyme Insufficiency Products:
- Mucosal irritaion
- Diarrhea
- Constipation
- Abdominal pain
Pancreatic enzyme replacement therapy monitoring parameters
- Nutritional intake
- Abdominal symptoms
- Growth
- Stool content
What are the fat-soluble vitamins?
A, D, E and K
The doses for these are higher in CF population compared to normal population
Nutritional Intake
-Nutritional intake is higher in CF population than normal population
May require enteral nutrition
Promotes healthy pulmonary function
Insulin Deficiency
- Cystic Fibrosis related diabetes
- Involves poor lung function and poor nutrition status
- Shares features from both DM1 and DM2
- Treatment: Insulin
DIOS (Distal Intestinal Obstruction Syndrome)
-Symptoms: Cramping, bloating, loss of appetitie
Treatment: Electrolyte lavage solution. This causes passage of stools
Hepatic System
- Bile duct obstruction can cause cirrhosis or portal hypertension
- Treat with Ursodiol
Pulmonary system
-There is impaired mucocilliary clearance in the lungs. The mucus is very thick and sticky, making it hard for the patient to breathe. Symptoms include obstruction, inflammation, sinusitis, rhinitis, and infection
Airway Clearance Technique
- Reduce accumulation of secretions and improve ventilation
- This includes exercise, back percussions, and percussion vest
- Pretreatment with bronchodilator
