Bronchiectasis Flashcards
What is Cystic Fibrosis?
Cystic Fibrosis (CF) is an autosomal recessive condition caused by a mutation in chromosome 7 at the CF transmembrane conductance regulator (CFTR) gene.
The delta F508 mutation that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein is most commonly implicated
What is the result of the C7 mutation?
The result of this mutation is increased sodium absorption and abnormal chloride secretion in the epithelial cells lining the airways. This leads to thicker mucus impairing the function of cilia.
The disease is multi system - what does this mean?
This disease is a multisystem condition as the CFTR gene is found in many organ systems throughout the body.
Neonatal features
Failure to thrive
Meconium Ileus
Rectal prolapse
Respiratory Features
Chronic Sinusitis
Nasal Polyps
Symptoms including cough, wheeze, haemoptysis
Recurrent lower respiratory tract infections
Bronchiectasis
Pneumothorax
Cor pulmonale
Respiratory failure
GI features
Pancreatic insufficiency resulting in diabetes mellitus and steatorrhea
Cirrhosis
Portal hypertension
Gallstones
Distal Intestinal Obstruction Syndrome
Reproductive features
Male infertility
Musculoskeletal features
Clubbing
Osteoporosis
Arthritis
Hypertrophic Pulmonary Osteoarthropathy
Diagnosis
Neonatal heel prick day between day 5 and day 9
Sweat test: sweat sodium and chloride >60mmol/L
Faecal elastase: this can provide evidence for abnormal pancreatic exocrine function.
Genetic screening: This can identify CF mutations
Investigations in known CF
Investigations performed for patients with CF encompass looking for the cause of symptoms, in addition to investigating complications of the condition. They can also be conducted to monitor disease progress and severity.
Bedside tests
Sputum culture or throat swab: if a patient presented with symptoms indicative of respiratory tract infection.
Blood: Full Blood Count; Urea and Electrolytes; Liver Function Tests; Clotting studies; Vitamin A, D, E, K and Glucose levels
Glucose tolerance test (to identify diabetes mellitus)
Spirometry: obstructive defect
Aspergillus skin prick test or serology
Radiological imaging
Abdominal ultrasound: Distal Intestinal Obstruction; liver cirrhosis; chronic pancreatitis
Chest X-ray: Hyperinflation, bronchiectasis
Non pharma management
Education about the condition
Fertility and genetic counselling
Dietician
Psychosocial counselling
Chest physiotherapy: postural drainage and active cycle breathing techniques
Screening for complications of Cystic Fibrosis such as osteoporosis
Medical management - infective exacerbations
antibiotics, although for patients with recurrent chest infections prophylactic long-term antibiotics may be prescribed.
Nebulised mucolytics (Dornase Alfa)
Bronchodilators (Inhaled corticosteroids or B2-agonists)
Medical management - pancreatic insufficiency
Insulin replacement regime
Exocrine enzymatic replacement (Creon)
Vitamin A, D, E, K
