Lydia Ko Lydia Ko. Tina Hyon had Lydia on the 24 th of April 1997 in Seoul Korea.
The Child with Cystic Fibrosis Lydia Burland. Learning Outcomes By the end of the session you...
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Transcript of The Child with Cystic Fibrosis Lydia Burland. Learning Outcomes By the end of the session you...
The Child with Cystic Fibrosis
Lydia Burland
Learning Outcomes
By the end of the session you should;
Know the basic physiology underlying CF
Recognise how CF presents in different age groups
Be able to interpret simple investigations in CF
Be aware of different management options
Know about common complications
Cystic Fibrosis: Key Facts
Most common inherited condition in the Caucasian population
Affects 1 in 2,500 live births
Autosomal recessive inheritance
Due to CFTR gene mutation on chromosome 7
Over 1,500 mutations have been identified
The only risk factor is a positive family history
Pathophysiology
CFTR is an ATP-responsive chloride channel
It is involved in;– Sodium transport across epithelia– Anti-bacterial defences– Cell surface composition
An abnormal CFTR results in;– Dehydration of epithelial surfaces– Viscous secretions– Increased bacterial colonisation
Presentation
How does CF present in childhood?
Presentation
Neonatal period;
Screening Prolonged jaundice
Meconium ileus Haemorrhagic disease
Infancy and childhood;
Recurrent LRTI FTT
Diarrhoea Chronic cough
Rectal prolapse Steatorrhoea
Nasal polyps Acute pancreatitis
Meconium Ileus
15-20% of newborns
Presents with;
– Bilious vomiting
– Abdominal distension
– Delayed passage of meconium
Treatment includes gastrograffin enema +/- surgery
Respiratory Disease
Dry sticky secretions lead to;
– Decreased mucociliary clearance
– Chronic infection and inflammation
– Bronchiectasis
Common pathogens include;
– Staph. Aureus
– Haemophilus influenzae
– Pseudomonas aeruginosa
– Burkholderia cepacia
On Examination
Signs + symptoms;
- Clubbing
- Cough
- Purulent sputum
- Crackles
- Wheeze
- Obstructive FEV1
Pancreatic Insufficiency
>90% of CF patients
Thick secretions block pancreatic ducts
Pancreatic enzymes then cause local cell damage
This results in;
– Malabsorption
– Insulin dependent diabetes mellitus
Investigations
What tests are used to diagnose CF?
Investigations
Usually identified on the newborn Guthrie test
Sweat testing is the gold standard for diagnosis
Other investigations include;
– Genetic testing (>1500 known mutations)
– Faecal elastase
– Sinus x-ray or head CT
– CXR and CT thorax
– Sputum microbiology
Management Strategies
Multidisciplinary team management from diagnosis
Prophylactic flucloxacillin to prevent staph. aureus infection
Immunisations + annual flu vaccine
Avoid smokers, early nursery + bugs
Management Strategies
Physiotherapy;– By parents and professionals
– Increases clearance of secretions
– Reduces airway obstruction
– Maintains respiratory function and exercise tolerance
DNase or hypertonic saline to loosen secretions
High energy diet
Creon + vitamins A, D + E supplements
Management of Acute Infection
Acute infection;
– 10-14 days of oral abx
– If failure to respond or very unwell admit for IV abx
1st episode of pseudomonas;
– 3 months of oral ciprofloxacin + inhaled colomycin
Chronic pseudomonas;
– Regular elective admission for IV abx +/- nebulised colomycin
Complications
Constipation
CF-related diabetes
Biliary cirrhosis
Osteoporosis
Psychosocial issues
Prognosis
Younger patients have better outcomes due to improved therapies
Morbidity is usually due to chronic pulmonary sepsis
Life expectancy is now >45 years
The future includes new gene therapies and drug modulation of the CFTR protein
In Summary
CF is common in Western populations
It is a multisystem disorder
Early diagnosis and management improves outcomes
Best managed by an MDT in a tertiary centre
Requires significant education and support for families
Questions
1. What percentage of people in the UK are carriers of the mutated CF gene?
a. 1 in 10 b. 1 in 25
c. 1 in 100 d. 1 in 250
2. A sodium level ____ is diagnostic of CF?
a. >30mmol/L b. >40mmol/L
c. >60mmol/L d. >100mmol/L
Questions
3. Which antibiotic is given as prophylaxis from diagnosis?
a. Amoxicillin b. Colomycin
c. Ciprofloxacin d. Flucloxacillin
4. What does the above antibiotic aim to prevent?
a. Pseudomonasb. Strep. pneumoniae
c. Staph. aureus d. Haem. influenzae
Questions
5. What organism is responsible for chronic pulmonary infection in CF?
a. Pseudomonas b. Strep. pneumoniae
c. Staph. aureus d. Haem. influenzae
6. The most common CF mutation is ___?
a. F508 b. βF508
c. αF508 d. μF508
Answers
1. What percentage of people in the UK are carriers of the mutated CF gene?
a. 1 in 10 b. 1 in 25
c. 1 in 100 d. 1 in 250
2. A sodium level ____ is diagnostic of CF?
a. >30mmol/L b. >40mmol/L
c. >60mmol/L d. >100mmol/L
Answers
3. Which antibiotic is given as prophylaxis from diagnosis?
a. Amoxicillin b. Colomycin
c. Ciprofloxacin d. Flucloxacillin
4. What does the above antibiotic aim to prevent?
a. Pseudomonasb. Strep. pneumoniae
c. Staph. aureus d. Haem. influenzae
Answers
5. What organism is responsible for chronic pulmonary infection in CF?
a. Pseudomonas b. Strep. pneumoniae
c. Staph. aureus d. Haem. influenzae
6. The most common CF mutation is ___?
a. F508 b. βF508
c. αF508 d. μF508
Thanks