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Foundation Sciences · Genetics
Cystic Fibrosis
Cystic fibrosis is an autosomal recessive multisystem disease caused by CFTR gene mutations, most commonly ΔF508, leading to defective chloride transport.
📌 Learning Objectives
- Describe the underlying mechanism of Cystic Fibrosis.
- Identify the key clinical features and complications of Cystic Fibrosis.
- Outline the appropriate investigations and management of Cystic Fibrosis.
- Discuss the implications for patients and families of Cystic Fibrosis.
📋 Overview
Features include recurrent chest infections, bronchiectasis, pancreatic insufficiency, meconium ileus, infertility (CBAVD in males) and salty sweat. Median survival now exceeds 50 years.
🔬 Basic Science
Features include recurrent chest infections, bronchiectasis, pancreatic insufficiency, meconium ileus, infertility (CBAVD in males) and salty sweat. Median survival now exceeds 50 years.
🏥 Clinical Relevance
CFTR modulators (e.g. ivacaftor, lumacaftor, elexacaftor/tezacaftor/ivacaftor) have transformed prognosis.
🧪 Investigations
Investigation depends on clinical context: relevant blood tests, imaging, and specific genetic or histopathological tests as appropriate. Refer to specialist services where indicated.
💊 Management
Management is condition-specific and typically multidisciplinary, combining medical therapy, surgical intervention where appropriate, supportive care, and family/genetic counselling.
Revision Resources – expand the sections below for high-yield notes, exam pearls, key facts and further reading.
MLA High-Yield Notes & Quick Revision ⌄
Common SBA themes: recognising the underlying mechanism, identifying classic clinical features, and choosing the first-line investigation or management step. Watch for inheritance pattern and characteristic associations.
cystic fibrosis
cftr
f508del
sweat test
modulator
- CF is autosomal recessive; commonest mutation is ΔF508 (Phe508del).
- Sweat chloride >60 mmol/L confirms diagnosis.
- Pancreatic insufficiency requires enzyme replacement (Creon).
- CBAVD causes infertility in ~98% of affected males.
- CFTR modulators are now first-line in eligible patients.
Exam Pearls ⌄
⭐ High Yield
CF is autosomal recessive; commonest mutation is ΔF508 (Phe508del).
Sweat chloride >60 mmol/L confirms diagnosis.
Pancreatic insufficiency requires enzyme replacement (Creon).
CBAVD causes infertility in ~98% of affected males.
CFTR modulators are now first-line in eligible patients.
💡 Clinical Pearl
Cystic Fibrosis: CFTR modulators (e.g. ivacaftor, lumacaftor, elexacaftor/tezacaftor/ivacaftor) have transformed prognosis.
⚠️ Exam Tip — Common Mistakes
Confusing the mechanism of Cystic Fibrosis with related conditions.
Missing classic clinical features of Cystic Fibrosis in SBA stems.
Failing to consider Cystic Fibrosis in the differential diagnosis.
Key Facts ⌄
CF is autosomal recessive; commonest mutation is ΔF508 (Phe508del).
Sweat chloride >60 mmol/L confirms diagnosis.
Pancreatic insufficiency requires enzyme replacement (Creon).
CBAVD causes infertility in ~98% of affected males.
CFTR modulators are now first-line in eligible patients.
Related Topics ⌄
References ⌄
- GMC MLA Content Map
- NICE Clinical Knowledge Summaries
- BMJ Best Practice
Further Resources
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