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Cystic Fibrosis Chris Kingsnorth.

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Presentation on theme: "Cystic Fibrosis Chris Kingsnorth."— Presentation transcript:

1 Cystic Fibrosis Chris Kingsnorth

2 Before We Begin

3 Overview Epidemiology Pathophysiology Clinical features Diagnosis
Management Prognosis

4 Epidemiology Most common cause of suppurative lung disease in childhood 1 in 2,500 babies affected Autosomal recessive 1 in 25 people carriers Most common mutation = ∆F508

5 Pathophysiology: ∆F508 Mutation
Affects gene coding for cystic fibrosis transmembrane conductance regulator (CFTR) Defective protein cannot escape endoplasmic reticulum

6 Pathophysiology: CFTR Protein
Controls Na and Cl transport across membrane of secretory epithelial cells Defect leads to thick secretions and high salt content of sweat

7 Pathophysiology

8 Clinical Features: Presentation
At birth: Meconium ileus During infancy: Diarrhoea and failure to thrive During childhood: Chronic, persistent respiratory Sx (cough, wheeze, recurrent infections) CF is screened for on Guthrie heel-prick blood test; if +ve will have sweat test at 2-4 weeks of age (see below)

9 Clinical features are highly variable
Chronic cough with sputum +/- wheeze Sputum colonisation with Haemophilus spp., S. aureus or Pseudomonas aeruginosa Recurrent chest infections Clubbing CXR typically shows overinflation with patchy collapse and consolidation Cor pulmonale Pancreatic exocrine insufficiency (blocked ducts)  malabsorption Leads to poor weight gain, stunted growth and frequency of bulky, greasy stools Abdominal distension Diabetes in 10% Clinical features are highly variable

10 Clinical features are highly variable
High salt losses in sweat Can lead to salt-losing crises in hot weather Male infertility in 98% (congenital malformation of vas deferens) Females suffer delay in puberty (secondary to poor growth and development) and often suffer from amenorrhoea, however fertility largely unaffected Fatty liver/ cirrhosis Osteoporosis (secondary to poor exercise tolerance, chronic illness and steroid use) Clinical features are highly variable

11 Diagnosis: Chloride Sweat Test
Sweat collected by ‘pilocarpine electrophoresis’ Low voltage current carries pilocarpine (parasympathomimetic) into skin (usually forearm) Stimulates sweat secretion Collected on filter paper and analysed for Na and Cl concentration >60mmol/L Na diagnostic of CF

12 Diagnosis: Sweat Test

13 Management

14 Management: Airway Clearance
Coughing and huffing techniques loosen mucus, promoting expectoration May require help from family members, friends or respiratory therapists ‘Vest’ therapy (high frequency chest wall oscillation) also used

15 Management: Inhaled Medications
Bronchodilators (e.g. salmeterol) Anticholinergics (e.g. ipratropium) Antibiotics (not long-term beyond 3 years) Steroids Mucolytics (e.g. DNase)

16 Management: Pancreatic Enzyme Replacement
Capsules containing mixtures of pig-derived pancreatic amylase, lipase, and chymotrypsin (protease) Taken with every meal +/- snacks Brands include Creon and Pancreaze Often taken alongside multivitamins

17 Management: CFTR Modulators
Ivacaftor (Kalydeco): For patients >2yrs with rare gating mutations (protein in membrane, but defective), not common ∆F508 mutation. Binds to transporter and improves function. Lumacaftor + Ivacaftor (Orkambi): For patients >12yrs with 2 copies of common ∆F508 mutation. Lumacaftor moves defective CFTR to cell membrane; once there, Ivacaftor increases CFTR activity. Approved by FDA (USA), awaiting European approval. CFTR modulators

18 Management: Lung Transplant
Considered when lung function <30% 1/3 of patients on waiting list will die before donor becomes available 5 year mortality post-transplant = 50%

19 Management: Support Patients with CF should not meet (risk of infection) Internet forums and message boards Cystic Fibrosis Trust (UK)

20 Prognosis Life-limiting
Life expectancy yrs; median survival 41 yrs Cause of death is generally respiratory failure and cor pulmonale Survival and quality of life expected to improve with advent of CFTR modulators

21 What Now? Download slides/ notes pages
Online MCQ: Request a Podcast/ ask a question

22 References CFTR render: ‘Protein CFTR PDB 1xmi’ by Emw - Own work. Licensed under CC BY-SA 3.0 via Commons - Blood spot form: Body:

23 References Lung transplant statistics: Survival statistics:

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