CF Flashcards
What s the mode of inheritance of CF?
Autosomal recessive
What is the pathophysiology of CF?
Mutation of CFTR gene leads to impaired chloride transport, causing thick secretions
What are the consequences of thick secretions?
Thick pancreatic and biliary –> blockage of ducts and lack of digestive enzymes
Low vol thick airway secretions –> reduced airway clearance –> bacterial consolidation and susceptibility to infection
What is the earliest presentation of CF?
Meconium ileus
What is the presentation of CF?
Chronic cough, thick sputum Recurrent LRTI Steatorrhoea Abdo pain and bloating Failure to thrive Pancreatitis Salt skin Male infertility Nasal olyps Clubbing
What are th common bacteria in CF?
Staph aureus
Pseudomonas aeruginosa- dificulta to treat and reduces life expectancy
What are the concerning bacteria in CF?
Pseudomonas aeroginosa- difficult to treat and reduces life expectancy
Burkholderia cepacia- majorly reduced life expectancy and lung function
Mycobacterium abscessus- contraindication for transplant
What is the screening for CF?
Newborn blood spot test at 5 days for immunoreactive trypsinogen
What is the investigation if CF screening is +?
Sweat test for chloride concentration
>60- CF
<29 (<39 if <6 months) = CF unlikely
What is the respiratory management of CF?
Chest physio, exercise Prophylactic flucloxacillin Bronchodilators Neb DNase Neb saline Vaccinations
What is the management of pseudomonas aeroginosa in CF?
Ciprofloxacin and neb colomycin
What is the pancreatic management of CF?
High calorie, high fat diet
CREON tablets
Fat soluble vitamin and mineral supplements
What are the surgical options for CF?
Ling, pancreas or liver transplant
What are the indications for lung transplant?
Rapidly deteriorating lung function FEV1 <30% predicted Life threatening exacerbations Increasing weight loss Recurrent worsening sepsis Hypoxia at rest Hypercapnia
What are the contraindications for lung transplant?
Other organ failure Malignancy within 5 years Significant peripheral vascular disease Drugs, nicotine, alcohol Active infection M. abscessus
