Cystic Fibrosis Overview

Cystic Fibrosis (CF) is one of the most common recessively inherited life-limiting diseases in the UK.

CF is rare in Chinese, South East Asian and African-Caribbean ethnic groups.

What is the median survival age of CF patients?

Initial symptoms of CF usually develop before the age of 2.

What is the name of the protein that CFTR encodes?

A normal-functioning CFTR channel moves chloride ions to the outside of the cell.

CF is a multi-organ condition caused by thick and dehydrated secretions.

Which of the following is NOT a common symptom of CF?

Meconium ileus is a blockage of the bowel by meconium, which is a common symptom of CF.

What is the best way to diagnose CF?

Early diagnosis of CF can lead to better growth and nutrition.

Obstruction in small airways is a common symptom of CF and can lead to progressive and destructive secondary infections.

What is the name of the bacteria that can cause lung damage in CF patients?

Bronchiectasis is a condition in which the airways in the lungs widen and become damaged.

What is the most common GI problem in CF patients?

Most patients with CF become pancreatic insufficient by the age of 12 months.

Treatment for pancreatic insufficiency in CF patients includes Pancreatic Enzyme Replacement Therapy (PERT).

Meconium ileus is caused by a blockage of the terminal ileum by meconium, which develops in utero.

Management of meconium ileus may include surgical intervention.

Distal Intestinal Obstruction Syndrome (DIOS) is characterized by frequent abdominal pain, complete or partial intestinal obstruction, and the gathering of fecal material and mucus in the distal ileum.

Treatment for DIOS typically includes rehydration, stool softening laxatives, and sometimes surgery.

Gastro-oesophageal reflux (GOR) is mainly caused by inappropriate relaxation of the gastro-oesophageal sphincter.

GOR often improves with increasing age.

Abdominal pain is a common symptom in children with poorly controlled malabsorption or constipation.

CF related diabetes is characterized by progressive fibrosis and fatty infiltration of the exocrine pancreas, which can lead to destruction of islet architecture and a loss of endocrine cells that secrete insulin, glucagon, and pancreatic polypeptide.

CF related diabetes can be managed with insulin.

Liver disease in CF is characterized by multilobular cirrhosis, which can lead to portal HTN, variceal bleeding, and ultimately liver failure.

Annual screening is recommended for liver disease in CF patients.

Low BMD in CF patients is usually caused by osteoporosis or vitamin D deficiency osteomalacia.

Puberty is often delayed in CF patients, which can be attributed to a reduction in bone age and delay in peak height velocity.

DXA is a bone density scan that is used to diagnose bone disease in CF patients.

Weight-bearing exercise is recommended to improve bone density in CF patients.

The sweat test is used to diagnose CF by measuring the concentration of chloride in sweat.

A sweat chloride concentration of 60 mmol/L or higher is indicative of cystic fibrosis.

Pancreatic insufficiency in CF patients can lead to malabsorption of fat and nitrogen.

Treatment for pancreatic insufficiency includes PERT, which involves replacing the digestive enzymes that the pancreas is not producing.

Increased energy expenditure in CF patients is often attributed to impaired lung function.

Anorexia is a common problem in CF patients, especially during pulmonary exacerbations.

Behavioral feeding difficulties can contribute to malnutrition in CF patients.

A W/H of less than 85 percent in children under the age of 5 years is often a sign of growth failure.

Dietary supplements may be considered for CF patients with a persistent W/H of 85-89 percent or if there has been no weight gain or a plateau in weight for several months.

Enteral feeding is often considered as a last resort for CF patients who have failed to achieve good nutritional status with dietary supplements.

Enteral feeding can improve weight gain, nutritional status, respiratory function, height for age, and BMI in CF patients.

Nasogastric feeding is a short-term feeding option that is typically used during respiratory exacerbations or as a trial before gastrostomy.

PEG is a long-term feeding option that is often preferred for children with CF.

Whole protein polymeric feeds are a common type of enteral feed that is generally well-tolerated, cheap, prescribable, low in osmolarity, and available in sterile ready-to-hang packs.

Elemental feeds, which are based on amino acids, are lower in fats than polymeric feeds and can be used to reduce the amount of PERT required.

Optimum fat absorption occurs when PERT is given in a divided dose, at the start and at the end of the meal.

Fat-soluble vitamins are often deficient in CF patients due to pancreatic insufficiency and altered bile salt metabolism.

CF patients with PI often require supplementation with Vitamin A, D, and E.

Vitamin K supplementation is often recommended for CF patients with low BMD, liver disease, or prolonged prothrombin time.

Calcium supplementation is often recommended for CF patients to reduce the risk of low BMD.

Sodium supplementation is often recommended for CF patients, especially in hot weather, to prevent dehydration.

The use of probiotics has been shown to reduce intestinal inflammation and severe respiratory infections in CF patients.

Megestrol acetate, which is a medication that stimulates appetite, can be used for CF patients with severe anorexia.

Enteric-coated pancreatic enzyme preparations are typically preferred over uncoated preparations because they help to protect the enzymes from being broken down by the stomach acid.

The dose of pancreatic enzymes needed for CF patients varies depending on the fat content of the meal.

Pancreatic enzyme preparations should never be crushed or chewed and should be given at the start, midpoint, and end of a meal.

Breast milk for infants with CF contains amylase and lipase that can partially compensate for reduced pancreatic secretion.

Protein hydrolysate formula is often recommended for infants with CF who develop a disaccharide intolerance after meconium ileus or cow's milk protein allergy.

CF patients with CFRD require higher energy intake than those with non-CF related diabetes.

Patients with CFRD are encouraged to eat regularly and to aim to consume a similar amount of carbohydrates each day.

Refined carbohydrates are typically recommended to be eaten between meals rather than with meals in CFRD patients.

Polymeric nutritional supplements are often preferred over carbohydrate-only supplements for CF patients with CFRD who need to supplement with oral nutrition.

Long-acting insulin is often recommended for CF patients with CFRD who require overnight enteral nutrition.

The energy requirements of CF patients with CFLD may increase significantly as a result of fat malabsorption.

Medium-chain triglycerides (MCTs) can be helpful for CF patients with CFLD because they are easier for the body to digest.

Gastrostomy is often used in advanced CFLD to provide nutritional support.

Liver transplantation is a possible treatment option for advanced CFLD and is a highly effective intervention.