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