Cystic Fibrosis (CF): Overview

Cystic fibrosis (CF) is the most common life-threatening genetic multiple system disorder among Caucasians, occurring in about 1 in 2,500 births in the United Kingdom. It is less frequent in other populations:

• African Americans: 1 in 15,000

• Asian Americans: 1 in 31,000

• Native Americans: 1 in 80,000

• Indians in the UK: 1 in 10,000–12,000

Genetic Cause

CF is caused by a mutation in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, located on chromosome 7. This gene controls chloride channels in the body. A mutation leads to thick, sticky mucus in the lungs and digestive system, causing various complications. Over 1,600 mutations have been identified, the most common being ΔF508 (Delta F508).1,2 

Symptoms of Cystic Fibrosis

CF symptoms vary but typically include:

• Newborns: Meconium ileus (blockage in intestines)

• Infants & Children: Repeated lung infections and bronchiolitis, chronic cough, difficulty gaining weight, and fatty stools

• Teenagers & Adults: Persistent lung disease, bronchiectasis, digestive problems, steatorrhea, pancreatitis, and male infertility (azoospermia)

More than 85% of CF patients have pancreatic insufficiency, leading to digestive issues.1,2 

Complications of Cystic Fibrosis

Age 0-2 years1,2 

• Meconium ileus (10-15% cases)

• Jaundice, anemia, and malnutrition

• Recurrent lung infections (staphylococcus, Haemophilus influenzae)

Age 2-12 years1,2 

• Malabsorption (failure to thrive) (85% cases)

• Recurrent pneumonia (60% cases)

• Nasal polyps (6-36% cases)

Age >13years1,2 

• Chronic lung disease (70% cases)

• Clubbing fingers/Hippocratic fingers/ Drumstick fingers

• Diabetes and glucose intolerance

• Liver disease (biliary cirrhosis, gallstones)

Male infertility (azoospermia) 

Diagnosis

CF is diagnosed through:

• Sweat test: High sweat chloride levels (>60 mEq/L) in two separate tests confirm the condition.

• Genetic testing: Identifies mutations in both copies of the CFTR gene.

• Nasal potential difference test: Used as an additional diagnostic tool but is not widely available.1,2 

Treatment & Management

1. Respiratory Care

• Airway clearance techniques (breathing exercises, physiotherapy)

• Antibiotics for lung infections

• Anti-inflammatory medications

2. Nutritional Management

• A high-calorie diet with frequent meals

• Vitamin supplements (A, D, E) in double the usual dose

• Pancreatic enzyme supplements to aid digestion

3. Managing Other Complications

• Regular screening for diabetes, liver disease, and digestive issues

Monitoring lung infections and providing necessary treatments

1.    Cystic fibrosis (CF) is most common in which population group?
a) African Americans
b) Asian Americans
c) Caucasians
d) Native Americans
Answer: c) Caucasians

2.    What is the approximate incidence of cystic fibrosis in the United Kingdom?
a) 1 in 15,000
b) 1 in 31,000
c) 1 in 2,500
d) 1 in 80,000
Answer: c) 1 in 2,500

3.    Cystic fibrosis is caused by a mutation in which gene?
a) CFTR
b) BRCA1
c) HBB
d) FMR1
Answer: a) CFTR

4.    The CFTR gene is located on which chromosome?
a) Chromosome 7
b) Chromosome 11
c) Chromosome 15
d) Chromosome 21
Answer: a) Chromosome 7

5.    The most common mutation associated with cystic fibrosis is:
a) G551D
b) R117H
c) ΔF508 (Delta F508)
d) W1282X
Answer: c) ΔF508 (Delta F508)

6.    Which of the following is an early sign of CF in newborns?
a) Recurrent pneumonia
b) Meconium ileus
c) Clubbing of fingers
d) Nasal polyps
Answer: b) Meconium ileus

7.    Which of the following is NOT a common respiratory symptom of cystic fibrosis?
a) Recurrent lung infections
b) Chronic cough
c) Bronchiectasis
d) Hematemesis
Answer: d) Hematemesis

8.    More than 85% of cystic fibrosis patients suffer from:
a) Pancreatic insufficiency
b) Hypertension
c) Nephrotic syndrome
d) Osteoporosis
Answer: a) Pancreatic insufficiency

9.    Which of the following complications is most commonly seen in CF patients aged 2-12 years?
a) Recurrent pneumonia
b) Diabetes mellitus
c) Azoospermia
d) Chronic liver disease
Answer: a) Recurrent pneumonia

10. Which of the following conditions is associated with CF in patients older than 13 years?
a) Nasal polyps
b) Chronic lung disease
c) Meconium ileus
d) Obstructive jaundice
Answer: b) Chronic lung disease

11. Which test is considered the gold standard for diagnosing cystic fibrosis?
a) Genetic testing
b) Sweat chloride test
c) Nasal potential difference test
d) Pulmonary function test
Answer: b) Sweat chloride test

12. A sweat chloride level above which value confirms cystic fibrosis?
a) >20 mEq/L
b) >40 mEq/L
c) >60 mEq/L
d) >100 mEq/L
Answer: c) >60 mEq/L

13. Which additional diagnostic test can be used if sweat test results are inconclusive?
a) MRI scan
b) ECG
c) Nasal potential difference measurement
d) Spirometry
Answer: c) Nasal potential difference measurement

14. Which of the following is NOT included in respiratory management for cystic fibrosis?
a) Airway clearance techniques
b) Antibiotics
c) Anti-inflammatory medications
d) Beta-blockers
Answer: d) Beta-blockers

15. What is the primary goal of nutritional management in CF patients?
a) Reduce protein intake
b) Increase caloric intake
c) Restrict fat intake
d) Maintain low sodium levels
Answer: b) Increase caloric intake

16. Which vitamins should be supplemented in CF patients?
a) B-complex vitamins
b) Fat-soluble vitamins (A, D, E)
c) Vitamin C and K
d) Only Vitamin D
Answer: b) Fat-soluble vitamins (A, D, E)

17. Pancreatic enzyme supplements in CF patients help with:
a) Increasing insulin production
b) Reducing lung infections
c) Improving digestion and nutrient absorption
d) Preventing nasal polyps
Answer: c) Improving digestion and nutrient absorption

18. Which of the following complications is commonly monitored in CF patients?
a) Liver disease
b) Diabetes mellitus
c) Digestive issues
d) All of the above
Answer: d) All of the above

#CysticFibrosis #CF #GeneticDisorder #LifeLimitingDisease #HereditaryCondition #RecessiveInheritance #IncidenceRate #Caucasians #AfricanAmericans #AsianAmericans #NativeAmericans #IndiansInUK #CFTRgene #Chromosome7 #ChlorideChannel #MucusDehydration #ThickStickyMucus #DeltaF508 #CFMutation #MeconiumIleus #RecurrentLungInfections #ChronicCough #Bronchiolitis #Bronchiectasis #Steatorrhea
#Pancreatitis #MaleInfertility #Azoospermia #PancreaticInsufficiency #MeconiumIleus #ObstructiveJaundice #FailureToThrive #RecurrentBronchitis #StaphylococcalPneumonia #HereditaryDisease #AutosomalRecessive #AirwayClearanceTherapy #PhysiotherapyInCF #CFRD #SweatChlorideTestGoldStandard
#PulmonaryFunctionTests #PFTs #AntibioticProphylaxisInCF #PancreaticEnzymeReplacementTherapy #PERT #MultidisciplinaryCFCare

References

1. Ghai OP. Essential Paediatrics. 10th ed. New Delhi: CBS Publishers; 2022.

2. Hockenberry MJ, Wilson D. Wong’s Essentials of Paediatric Nursing. 11th ed. St. Louis: Elsevier; 2021.