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; ScreeningProlonged jaundice Meconium ileusHaemorrhagic disease  Infancy and childhood; Recurrent LRTIFTT DiarrhoeaChronic cough Rectal prolapseSteatorrhoea Nasal polypsAcute 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 FEV 1

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; – days of oral abx – If failure to respond or very unwell admit for IV abx  1 st 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 10b. 1 in 25 c. 1 in 100d. 1 in A sodium level ____ is diagnostic of CF? a. >30mmol/Lb. >40mmol/L c. >60mmol/Ld. >100mmol/L

Questions 3.Which antibiotic is given as prophylaxis from diagnosis? a. Amoxicillinb. Colomycin c. Ciprofloxacind. Flucloxacillin 4.What does the above antibiotic aim to prevent? a. Pseudomonasb. Strep. pneumoniae c. Staph. aureusd. Haem. influenzae

Questions 5.What organism is responsible for chronic pulmonary infection in CF? a. Pseudomonasb. Strep. pneumoniae c. Staph. aureusd. Haem. influenzae 6.The most common CF mutation is ___? a.  F508b. βF508 c. αF508d. μF508

Answers 1.What percentage of people in the UK are carriers of the mutated CF gene? a. 1 in 10b. 1 in 25 c. 1 in 100d. 1 in A sodium level ____ is diagnostic of CF? a. >30mmol/Lb. >40mmol/L c. >60mmol/Ld. >100mmol/L

Answers 3.Which antibiotic is given as prophylaxis from diagnosis? a. Amoxicillinb. Colomycin c. Ciprofloxacind. Flucloxacillin 4.What does the above antibiotic aim to prevent? a. Pseudomonasb. Strep. pneumoniae c. Staph. aureusd. Haem. influenzae

Answers 5.What organism is responsible for chronic pulmonary infection in CF? a. Pseudomonasb. Strep. pneumoniae c. Staph. aureusd. Haem. influenzae 6.The most common CF mutation is ___? a.  F508b. βF508 c. αF508d. μF508

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