Cystic Fibrosis

Question 1

A 2 year old presents with persistent cough for several months, associated with bulky frothy stools and feeding intolerance. discuss how you would investigate and manage this patient,

Answer 1

Impression
Given the multi systems chronic presentation with productive cough and associated stool changes, am largely concerned about cystic fibrosis.

CF is a genetic multi systems disease characterised by derangements in transport of salt and water across epithelial membranes. Due to CTFR gene mutations (F508 mutation), thereby leading to absence of chloride channel on epithelial cell membranes throughout the body. This leads to excessive loss of salt an increased levels of NaCl in sweat. Also leads to the formation of hypervicous mucus from other exocrine glands

Ddx

• chronic lung disease, primary ciliary dysplasia
• infective: chronic bronchitis, pneumonia, gastroenteritis
• autoimmune: coeliac disease, IBD

Question 2

CF - History

Answer 2

History;

• respiratory: chronic, productive cough, wheeze, exercise intolerance, SOB
• GIT: failure to pass meconium in neonates, pancreatic disease, steatorrhoea, distension, failure to thrive, obstruction.
• other: salty sweat, fractures due to osteopenia, infertility, sx of FTT, sx of systemic infection
• Risks: family history
• paeds history: development, ?regression, vaccinations, etc

Question 3

CF - Examination

Answer 3

Examination
- vitals + general (signs of infection)
- systems review:
   o cardioresp
   o GIT
- Growth parameters
- Developmental milestones

Question 4

CF - Investigations

Answer 4

Investigations

• Chloride sweat test (looking for high Cl content of sweat)
• genetic testing for F508 mutation
• bedside: sputum sample MCS, spirometry (obstructive pattern)
• bloods: FBC, EUC, LFT
• imaging: CXR for any acute pathology
• other: faecal elastase for pancreatic insufficiency

Question 5

CF - Management

Answer 5

Management
- MDT: resp, paeds, gasatro, allied health and nursing, etc

Supportive:

• health lifestyle no smoking, good hygiene practices, vaccinations
• patient and family education
• abx for infections
• mucolytics + chest physio to assist with airway clearance
• high calorie diets
• pancreatic enzyme replacement therapy

consider clinical geneticist referral for family planning.