Cystic Fibrosis Flashcards
(15 cards)
Cystic fibrosis definition, most common mutation, prevalence
Genetic mutation of the CFTR gene which affects primarily lungs and pancreas, although complications and other organs can be affected
Common mutation: 87% of people w/ CF have deltaF508 mutation
1 in 25 are CF carriers, 1 in 3850 have CF (homozygous mutations)
CFTR mutation classes
Class I: no CFTR protein made
Class II: Abnormal CFTR destroyed before reaching membrane
- includes deltaF508 mutation
Class III: Protein reaches membrane but channel is blocked
Class IV: Channel does not function correctly in membrane
Class V: Works but minimal CFTR made
Pathophysiology of CF
Absent, dysfunctional or deficient CFTR channels prevents movement of Cl-salt across apical membrane of the lungs necessary to drive osmotic flow
Water is trapped in the cells of the lungs (or pancreas or anywhere there is mucus produced) and dehydrated, thick mucus forms which accumulates, causes inflammation and is easily infected with bacterial overgrowth which doesn’t normally affect healthy individuals
Occurs in pancreas, sinuses, reproductive organs, intestines and lung airways
Symptoms of CF
Persistent cough
Growth challenges
Abdominal pain and Bloating - pancreatic insufficiency to secret enzymes
- requires use of pancreatic enzymes: lipase, protease and amylase taken just before eating
Salty skin - excess Na-Cl secretion from sweat glands w/o reabsorption, can be used as a diagnostic test
Clubbing of fingers
Pancreatic enzymes guidelines for infants, children and by g of fat
Infants (<4): 2000-4000 lipase units per 120 mL formula/breast feeding
Max = 2500 LU/kg/feeding
Children: 1000 LU/kg/meal (<4) and 500 LU/kg/meal (>4)
Max = 2500 LU/kg/feeding
g of fat: 500-4000 LU/g of fat/day (av = 1800 LU/g/day)
Max = 4000 LU/g/day
Medications for management
Pulmozyme or hypertonic saline: thin mucus
Inhaled antibiotics
Bronchodilators/corticosteroids/prednisone
- bone thinning and glucose spiking
PPIs
Azithromycin to prevent infections
Lax-a-day, nasal wash
Comorbidity meds: insulin, IBD, ursodeoxycholic acid for liver disease, etc)
Physiotherapy - chest slapping, blowing against pressure to open airways and move mucus
Vitamins/minerals for CF management
Multivitamins
Vitamind D + Ca (corticosteroids are bone thinning)
Fe, Zn, omega-3s
CFTR modulators what they are, how they work and names
Drugs which help defective CFTR proteins shape correctly and help them work too
Kalydeco, orkambi, symdeko, trikafta (for deltaF508 mutation, helps repair protein), alyftrek (recent)
Challenges to compliance in CF
Life-long medication
Routines are complex
The more asymptomatic, the more people slack on the regimen
Distal intestinal obstruction syndrome (DIOS) risk factors, symptoms, treatment and aftercare
Risk factors: severe class, pancreatic insufficiency, fat malabsorption, dehydration, history of DIOS, organ transplantation
Symptoms: abdominal pain, N/V, observed fecal mass w/ imaging in lower right abdomen
Incomplete DIOS treatment: oral rehydration + stool softeners/laxatives
Complete DIOS treatment: IV rehydration, nasogastric aspiration, enemas, laxatives, surgery
Aftercare: food/eating anxiety, enzyme changes, water/fiber tracking, laxative addition
CF related diabetes (CFRD)
22%, >50% over 35
Diagnosis: unexplained decline in breathing and inability to gain weight/weight loss
Treatment:
Insulin, CHO counting (1 unit insulin per 15g CHO) - depends on blood glucose before meal, may need correction factor
Possible splitting insulin in high fat/high protein meals
Hypoglycemia can occur with or without CFRD/insulin due to pancreatic disease - important to watch out for
Biochemical values to look out for
Fat-soluble vitamin deficiency due to malabsorption
Anemia due to blood loss, vitamin deficiency or anemia of chronic disease
Zn deficiency due to malabsorption (acrodermatitis, rash, ↓ appetite, delayed growth)
Elevated liver enzymes (AST, ALT, alkaline phosphatase and GGT) due to liver disease
Elevated blood glucose related to CFRD or glucose intolerance
Elevated CRP due to inflammation or infection (can be used to monitor treatments)
CF energy requirements
BMI targets
110-200% of a healthy person of same age and gender –> due to work of breathing/coughing, inflammation, malabsorption and complications
Children >/= 50th percentile
Females BMI 22
Males BMI 23
BMI >25 may decrease benefits to lung function
Factors which influence eating/appetite in CF patients
CFTR modulators and weight loss concerns now-a-days
Life expectancy among people with CF now
Dyspnea (SOB), sinus issues, medications (steroids), GI issues, slow GI motility, DIOS history, psych status and financial status (high cost of high energy requirements)
CFTR modulators are reducing weight loss issues in CF patients but with infection can still happen (decreased appetite/increased needs)
- better meds, less infections/symptoms, more active, gaining muscle and better multidisciplinary teams
Improved life expectancy of 60 years old
66% now reach adulthood, 22% are >40
Dietary recommendations for CF patients
Monitor
Calorie dense, high protein - teach how to increase energy and protein with milk powder, yogurt, avocado, MCT oil etc
Add supplements as snacks like ensure plus, boost
CFTR modulators require fat, as well as fat soluble vitamins
6 small meals sometimes
Some may require enteral nutrition
Monitor: energy needs, weight, blood nutrient levels, complications, requires adaptation and team work
