Cystic Fibrosis
Disease nature
Genetics
Autosomal recessive inheritance
CFTR gene with six mutation classifications
protein controls salt/water balance inside cells particularly in the lungs
Overview
Affects the cells that produce mucus, sweat and digestive juices.
Thick and stick fluids ... plug up tubes, ducts and passageways
Organ effects
Lung. Low Cl secretion into airway lumen = dense surfactant, low mucociliary clearance, infection, inflammation
Pancreas. Low Cl secretion into pancreatic ducts, dehydration/ductal blockage, insufficient enzymes production = maldigestion, malabsorption, gallstones, diabetes (fibrosis = islet cell atrophy like T1, although presents like T2)
Intestine. Low bicarb/Cl secretion in gut, unbuffered gastric secretion. Possible obstruction
Liver. Low Cl secretion in bile ducts, bile acid retention, ductal obstruction = cirrhosis, portal hypertension, oesophageal varices
Energy imbalance
Increased energy expenditure - inflammation, increased work for lungs (mucous/inflamed airways), infection.
Maldigestion, Malabsorption - exocrine insufficiency, hyperacidity, intestinal mucous
Inadequate intake - poor appetite, disease related anorexia (TNF-a/cytokines), dyspnoea, early satiety, dry mouth, taste changes, behavioural factors
Severity dx
Mild - FEV1 60-80% predicted
Moderate - cough, dyspnoea, FEV1 40-59% predicted
Severe - chronic cough, sputum production, dyspnoea w ADLs, FEV1<40% predicted
Nutritional Mx
General Symptoms
Steatorrhea, abdominal cramps, weight loss, chronic cough, dry mouth, fatigue, low appetite, low concentration
PERT
Aims to correct malabsorption. pH 5.5 for activation (therefore wont achieve 100% specificity due to bicarb/Cl insufficiency)
Clinical guide: 500-4000U lipase per g dietary fat. Max 10,000U.
Consume within 30min of consuming food
1 Creon (25,000) per 25g of fat
Salt replacement therapy - electrolyte imabalance
GI complications. high viscosity of intestinal mucous, altered motility, gastro-oesophageal reflux
Fat-soluble vitamin deficiencies (ADEK) supplementation PRN, regular r/v
Meet individual energy requirements.
M/E
diet adherenence
GI/liver problems
Bone diseases (osteoporosis related to vitamin D)
Screen + treat CF related diabetes
Nutritional support
Liaisation
CF gastroenterologist - obstructions, constipation, GORD, liver disease
CF endocrinologist - related diabetes/ bone disease