Cystic Fibrosis Flashcards
CF definition
Autosomal recessive disease leading to mutations in the CFTR.
This leads to multisystem disease but particularly respiratory and GI systems are affected.
Clinical features of CF.
Neonates will have failure to thrive, meconium ileus and possible rectal prolapse.
Intestinal malabsorption leading to failure to thrive most evident in infants. This is due to severe deficiency of pancreatic enzymes.
Recurrent chest infections and wheeze, cough, bronchiectasis, pneumothorax, haemoptysis, resp failure and cor pulmonale.
Possible diabetes and steatorrhoea, gall stones and cirrhosis.
Male infertility, osteoporosis, arhtritis, vasculitis.
Examination findings of CF.
Cyanosis
Wheeze
Finger clubbing
Bilateral coarse crackles
etc…
Diagnosis of CF.
Usually most suspicion is raised at newborn screening where immunoreactive trypsinogen concentrations are raised in neonatal heel-prick test.
If the concentration is raised ->
Sweat test - Sweat sodium and chloride > 60 mmol/L
Backed up by a genetic test usually of faecal elastase.
Tests in CF.
Bloods - FBC, U&Es, LFTs, clotting, Vit A,D,E levels. Annual OGTT.
Bacteriology - cough swab, sputum culture
Imaging - CXR for hyperinflation and bronchiectasis
Abdo USS - Cirrhosis and chronic pancreatitis
Spirometry with obstructive defect
Aspergillus serology
Faecal fat analysis
Presentation of meconium ileus.
Signs of intestinal obstruction
Bilous vomiting
Abdo distention
Delay in passing meconium
Common CF complications
Respiratory infections which needs agressive therapy with physio and antibiotics. Pseudomonas aeruginosa is common -> ciprofloxacin.
Low body weight due to pancreatic insufficiency
Distal intestinal obstruction syndrome due to intestinal contents in the distal ileum and proximal colon.
CF related diabetes
Management of low body weight in CF.
Pancreatic enzyme replacement
High calorie intake and extra supplements
May need NG or PEG feeding
DIOS vs constipation
DIOS is a faecal obstruction in ileocaecum
What is the cause of DIOS?
Usually due to insufficient prescription of pancreatic enzymes or non-compliance with the medication.
Also salt deficiency and hot weather can cause it.
Diagnosis of DIOS.
Symptoms
Palpable right iliac fossa massa
AXR demonstrating faecal loading at junction of small and large bowel.
Management of the chest in CF.
Physiotherapy with postural drainage, airway clearance technique.
Antibiotics are given for acute infective exacerbations and prophylactically.
Mucolytics may be useful such as DNase or nebulised hypertonic saline.
Bronchodilators and annual CXR surveillance.
Management of GI in CF.
Pancreatic enzyme replacement
Fat-soluble vitamin supplements like ADEK
Possible requirement of liver transplant if liver cirrhosis.
Other managements of CF.
Patients should be seen every 3 months and have an annual review.
FEV1 and BMI should be recorded at every appointment.
OGTT testing from 12 years old
DEXA bone scanning
CF lifestyle advice.
No smoking
Avoid other CF patients
Avoid friends and relatives with colds and infections
No jacuzzis
Clean and dry nebulisers thoroughly
Avoid stables, compost or rotting vegetation due to risk of aspergillus fumigatus inhalation.
Annual influenza immunisation
Sodium chloride tables in hot weather or in vigorous exercise.
