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Cystic Fibrosis (CF) is one of the most common recessively inherited life-limiting diseases in the UK.
Cystic Fibrosis (CF) is one of the most common recessively inherited life-limiting diseases in the UK.
True
CF is rare in Chinese, South East Asian and African-Caribbean ethnic groups.
CF is rare in Chinese, South East Asian and African-Caribbean ethnic groups.
True
What is the median survival age of CF patients?
What is the median survival age of CF patients?
41.4 years
Initial symptoms of CF usually develop before the age of 2.
Initial symptoms of CF usually develop before the age of 2.
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What is the name of the protein that CFTR encodes?
What is the name of the protein that CFTR encodes?
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A normal-functioning CFTR channel moves chloride ions to the outside of the cell.
A normal-functioning CFTR channel moves chloride ions to the outside of the cell.
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CF is a multi-organ condition caused by thick and dehydrated secretions.
CF is a multi-organ condition caused by thick and dehydrated secretions.
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Which of the following is NOT a common symptom of CF?
Which of the following is NOT a common symptom of CF?
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Meconium ileus is a blockage of the bowel by meconium, which is a common symptom of CF.
Meconium ileus is a blockage of the bowel by meconium, which is a common symptom of CF.
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What is the best way to diagnose CF?
What is the best way to diagnose CF?
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Early diagnosis of CF can lead to better growth and nutrition.
Early diagnosis of CF can lead to better growth and nutrition.
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Obstruction in small airways is a common symptom of CF and can lead to progressive and destructive secondary infections.
Obstruction in small airways is a common symptom of CF and can lead to progressive and destructive secondary infections.
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What is the name of the bacteria that can cause lung damage in CF patients?
What is the name of the bacteria that can cause lung damage in CF patients?
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Bronchiectasis is a condition in which the airways in the lungs widen and become damaged.
Bronchiectasis is a condition in which the airways in the lungs widen and become damaged.
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What is the most common GI problem in CF patients?
What is the most common GI problem in CF patients?
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Most patients with CF become pancreatic insufficient by the age of 12 months.
Most patients with CF become pancreatic insufficient by the age of 12 months.
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Treatment for pancreatic insufficiency in CF patients includes Pancreatic Enzyme Replacement Therapy (PERT).
Treatment for pancreatic insufficiency in CF patients includes Pancreatic Enzyme Replacement Therapy (PERT).
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Meconium ileus is caused by a blockage of the terminal ileum by meconium, which develops in utero.
Meconium ileus is caused by a blockage of the terminal ileum by meconium, which develops in utero.
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Management of meconium ileus may include surgical intervention.
Management of meconium ileus may include surgical intervention.
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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.
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.
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Treatment for DIOS typically includes rehydration, stool softening laxatives, and sometimes surgery.
Treatment for DIOS typically includes rehydration, stool softening laxatives, and sometimes surgery.
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Gastro-oesophageal reflux (GOR) is mainly caused by inappropriate relaxation of the gastro-oesophageal sphincter.
Gastro-oesophageal reflux (GOR) is mainly caused by inappropriate relaxation of the gastro-oesophageal sphincter.
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GOR often improves with increasing age.
GOR often improves with increasing age.
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Abdominal pain is a common symptom in children with poorly controlled malabsorption or constipation.
Abdominal pain is a common symptom in children with poorly controlled malabsorption or constipation.
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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 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.
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CF related diabetes can be managed with insulin.
CF related diabetes can be managed with insulin.
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Liver disease in CF is characterized by multilobular cirrhosis, which can lead to portal HTN, variceal bleeding, and ultimately liver failure.
Liver disease in CF is characterized by multilobular cirrhosis, which can lead to portal HTN, variceal bleeding, and ultimately liver failure.
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Annual screening is recommended for liver disease in CF patients.
Annual screening is recommended for liver disease in CF patients.
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Low BMD in CF patients is usually caused by osteoporosis or vitamin D deficiency osteomalacia.
Low BMD in CF patients is usually caused by osteoporosis or vitamin D deficiency osteomalacia.
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Puberty is often delayed in CF patients, which can be attributed to a reduction in bone age and delay in peak height velocity.
Puberty is often delayed in CF patients, which can be attributed to a reduction in bone age and delay in peak height velocity.
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DXA is a bone density scan that is used to diagnose bone disease in CF patients.
DXA is a bone density scan that is used to diagnose bone disease in CF patients.
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Weight-bearing exercise is recommended to improve bone density in CF patients.
Weight-bearing exercise is recommended to improve bone density in CF patients.
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The sweat test is used to diagnose CF by measuring the concentration of chloride in sweat.
The sweat test is used to diagnose CF by measuring the concentration of chloride in sweat.
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A sweat chloride concentration of 60 mmol/L or higher is indicative of cystic fibrosis.
A sweat chloride concentration of 60 mmol/L or higher is indicative of cystic fibrosis.
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Pancreatic insufficiency in CF patients can lead to malabsorption of fat and nitrogen.
Pancreatic insufficiency in CF patients can lead to malabsorption of fat and nitrogen.
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Treatment for pancreatic insufficiency includes PERT, which involves replacing the digestive enzymes that the pancreas is not producing.
Treatment for pancreatic insufficiency includes PERT, which involves replacing the digestive enzymes that the pancreas is not producing.
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Increased energy expenditure in CF patients is often attributed to impaired lung function.
Increased energy expenditure in CF patients is often attributed to impaired lung function.
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Anorexia is a common problem in CF patients, especially during pulmonary exacerbations.
Anorexia is a common problem in CF patients, especially during pulmonary exacerbations.
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Behavioral feeding difficulties can contribute to malnutrition in CF patients.
Behavioral feeding difficulties can contribute to malnutrition in CF patients.
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A W/H of less than 85 percent in children under the age of 5 years is often a sign of growth failure.
A W/H of less than 85 percent in children under the age of 5 years is often a sign of growth failure.
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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.
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.
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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 is often considered as a last resort for CF patients who have failed to achieve good nutritional status with dietary supplements.
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Enteral feeding can improve weight gain, nutritional status, respiratory function, height for age, and BMI in CF patients.
Enteral feeding can improve weight gain, nutritional status, respiratory function, height for age, and BMI in CF patients.
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Nasogastric feeding is a short-term feeding option that is typically used during respiratory exacerbations or as a trial before gastrostomy.
Nasogastric feeding is a short-term feeding option that is typically used during respiratory exacerbations or as a trial before gastrostomy.
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PEG is a long-term feeding option that is often preferred for children with CF.
PEG is a long-term feeding option that is often preferred for children with CF.
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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.
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.
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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.
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.
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Optimum fat absorption occurs when PERT is given in a divided dose, at the start and at the end of the meal.
Optimum fat absorption occurs when PERT is given in a divided dose, at the start and at the end of the meal.
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Fat-soluble vitamins are often deficient in CF patients due to pancreatic insufficiency and altered bile salt metabolism.
Fat-soluble vitamins are often deficient in CF patients due to pancreatic insufficiency and altered bile salt metabolism.
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CF patients with PI often require supplementation with Vitamin A, D, and E.
CF patients with PI often require supplementation with Vitamin A, D, and E.
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Vitamin K supplementation is often recommended for CF patients with low BMD, liver disease, or prolonged prothrombin time.
Vitamin K supplementation is often recommended for CF patients with low BMD, liver disease, or prolonged prothrombin time.
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Calcium supplementation is often recommended for CF patients to reduce the risk of low BMD.
Calcium supplementation is often recommended for CF patients to reduce the risk of low BMD.
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Sodium supplementation is often recommended for CF patients, especially in hot weather, to prevent dehydration.
Sodium supplementation is often recommended for CF patients, especially in hot weather, to prevent dehydration.
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The use of probiotics has been shown to reduce intestinal inflammation and severe respiratory infections in CF patients.
The use of probiotics has been shown to reduce intestinal inflammation and severe respiratory infections in CF patients.
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Megestrol acetate, which is a medication that stimulates appetite, can be used for CF patients with severe anorexia.
Megestrol acetate, which is a medication that stimulates appetite, can be used for CF patients with severe anorexia.
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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.
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.
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The dose of pancreatic enzymes needed for CF patients varies depending on the fat content of the meal.
The dose of pancreatic enzymes needed for CF patients varies depending on the fat content of the meal.
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Pancreatic enzyme preparations should never be crushed or chewed and should be given at the start, midpoint, and end of a meal.
Pancreatic enzyme preparations should never be crushed or chewed and should be given at the start, midpoint, and end of a meal.
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Breast milk for infants with CF contains amylase and lipase that can partially compensate for reduced pancreatic secretion.
Breast milk for infants with CF contains amylase and lipase that can partially compensate for reduced pancreatic secretion.
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Protein hydrolysate formula is often recommended for infants with CF who develop a disaccharide intolerance after meconium ileus or cow's milk protein allergy.
Protein hydrolysate formula is often recommended for infants with CF who develop a disaccharide intolerance after meconium ileus or cow's milk protein allergy.
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CF patients with CFRD require higher energy intake than those with non-CF related diabetes.
CF patients with CFRD require higher energy intake than those with non-CF related diabetes.
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Patients with CFRD are encouraged to eat regularly and to aim to consume a similar amount of carbohydrates each day.
Patients with CFRD are encouraged to eat regularly and to aim to consume a similar amount of carbohydrates each day.
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Refined carbohydrates are typically recommended to be eaten between meals rather than with meals in CFRD patients.
Refined carbohydrates are typically recommended to be eaten between meals rather than with meals in CFRD patients.
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Polymeric nutritional supplements are often preferred over carbohydrate-only supplements for CF patients with CFRD who need to supplement with oral nutrition.
Polymeric nutritional supplements are often preferred over carbohydrate-only supplements for CF patients with CFRD who need to supplement with oral nutrition.
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Long-acting insulin is often recommended for CF patients with CFRD who require overnight enteral nutrition.
Long-acting insulin is often recommended for CF patients with CFRD who require overnight enteral nutrition.
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The energy requirements of CF patients with CFLD may increase significantly as a result of fat malabsorption.
The energy requirements of CF patients with CFLD may increase significantly as a result of fat malabsorption.
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Medium-chain triglycerides (MCTs) can be helpful for CF patients with CFLD because they are easier for the body to digest.
Medium-chain triglycerides (MCTs) can be helpful for CF patients with CFLD because they are easier for the body to digest.
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Gastrostomy is often used in advanced CFLD to provide nutritional support.
Gastrostomy is often used in advanced CFLD to provide nutritional support.
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Liver transplantation is a possible treatment option for advanced CFLD and is a highly effective intervention.
Liver transplantation is a possible treatment option for advanced CFLD and is a highly effective intervention.
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Study Notes
Cystic Fibrosis
- Cystic Fibrosis (CF) is a common, recessively inherited, life-limiting disease in the UK.
- It is rare in Chinese, South East Asian, and African-Caribbean ethnic groups.
- Approximately 56% of CF patients are adults.
- Median survival is about 41.4 years.
Introduction
- Initial symptoms typically develop before age 2, though sometimes later.
- The responsible gene, located on chromosome 7, encodes the CFTR protein (CF transmembrane conductance regulator).
- CFTR regulates salt and water movement across cell membranes in secretory epithelial cells, leading to thickened secretions in various organs.
Pathophysiology
- Dysfunction of exocrine glands disrupts ion and fluid movement.
- Thickened secretions cause multi-organ complications.
- Common problems include recurrent respiratory infections, inflammation, respiratory failure, exocrine pancreatic insufficiency, intestinal obstruction (meconium ileus), infertility (especially in males), impaired glucose tolerance (IGT), and type II diabetes (CFRD).
- Other complications include liver disease, portal hypertension, reduced bone mineral density, gut motility problems, and CF arthropathy.
- Psychological and behavioural problems can also occur.
Diagnosis
- Newborn screening is offered on day 5 of life.
- Diagnosis is confirmed by sweat test and genetic mutation analysis by 4 weeks of age.
- Early diagnosis improves growth and nutrition.
Clinical Features (Respiratory)
- Lungs are affected weeks after birth, leading to obstruction in small airways, progressive destruction, and secondary infections.
- Common lung pathogens include Staphylococcus aureus, Haemophilus influenzae, and Pseudomonas species.
- Bronchiectasis, abscess formation, and a persistent, loose, purulent cough are common symptoms.
- Respiratory management aims to control infection and clear thickened bronchial secretions.
Clinical Features (Gastrointestinal)
- Pancreatic insufficiency is a common problem.
- This occurs in 92% of patients by age 12 months, related to damage to the acinar tissue starting in utero.
- Malabsorption of fat, protein, nitrogen, bile, fat-soluble vitamins, and vitamin B12 occurs.
- Diagnosis involves fecal elastase.
- Other gastrointestinal problems include meconium ileus, distal intestinal obstruction syndrome, and gastroesophageal reflux (GER).
Clinical Features (Other)
- CF-related diabetes is a problem due to progressive fibrosis and fatty infiltration of the exocrine pancreas, leading to destruction of islet cells that produce insulin, glucagon, polypeptide.
- Features of diabetes types I and II are present.
- Nutritional complications and worsening of nutritional status accompany a decline in lung function and impact growth in adolescents.
- Delayed puberty, is common.
- Bone disease (low BMD) is common, stemming from overall disease severity, duration of ATB use, corticosteroid use, exercise tolerance/physical activity, genotype, CF related diabetes(CFRD), and delayed puberty.
- Diagnosis and monitoring of bone density are important.
Nutritional Management (Causes of Malnutrition)
- E Losses: Pancreatic insufficiency, prior GI surgery for meconium ileus, vomiting following cough or GER, glycosuria, Cystic Fibrosis Lung Disease (CFLD)
- Increased E Expenditure: Impaired lung function, subclinical infection, increased oxygen cost related to breathing, decreased activity
- Anorexia and Low E Intake: During pulmonary exacerbations, increased energy requirements but decreased appetite
- Assessment and management of growth failure important for CF patients.
Nutritional Management (Supplementation/Feeding)
- Oral supplementation may be needed if dietary counseling fails to improve E and protein intake, or if weight for height (W/H) is below 85-89%.
- Enteral feeding is considered if nutrition and supplements fail. Methods include nasogastric tube or gastrostomy feeding.
- Types of Enteral Feeds:
- Whole protein polymeric feeds (high in fats and calories)
- Elemental feeds (a.a. based feeds, lower in fat)
- High fat feeds
- Pancreatic enzymes should be given with meals based on fat content; these are better in enteric-coated form.
Vitamin and Mineral Supplements
- Fat-soluble vitamins (A, D, E, K) are frequent in CF due to pancreatic insufficiency and altered bile salt metabolism.
- Patients with pancreatic insufficiency (PI) should receive these vitamins and have their levels checked every 3-6 months.
- Calcium levels should be optimized to reduce the risk of low bone mineral density (BMD).
- Sodium may be necessary in particular conditions if breast milk or infant formula is low in sodium.
- Other supplements, like omega-3 fatty acids and probiotics, may have a role but require more research.
Appetite Stimulants
- Megestrol acetate, cyproheptadine, and growth hormone (GH) are options for severe anorexia, but may have side effects.
CFRD (Cystic Fibrosis Related Diabetes)
- Insulin management should be tailored to individual dietary intake.
- Diagnosis using OGTT (oral glucose tolerance test) although CGM (continuous glucose monitoring) is essential to diagnose earlier "pre diabetic" stage.
- Patients with CFRD should eat regularly, and have similar amount of carbohydrates each day, and take carbohydrates with meals, not outside of meals.
Liver Disease
- Multilobular cirrhosis, portal hypertension, and liver failure can occur.
- Annual screening for liver function is essential.
- Liver biopsy may be needed to diagnose and monitor this condition
Additional Notes
- Specific treatments, such as PERT(pancreatic enzyme replacement therapy), and methods to assess nutritional status and treatment are described.
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Description
This quiz covers the essential information about Cystic Fibrosis, including its genetic basis, common symptoms, and pathophysiological impact on various organs. Explore the prevalence of this disease and understand the complications faced by patients. Ideal for students and healthcare professionals interested in genetic disorders.
