Infection - Cystic Fibrbois

Question 1

What is CF?

Answer 1

Autosomal recessive disease
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR)
Often affects resp and GI systems
Characterised by thickened secretions

Question 2

How is CF diagnosed?

Answer 2

History in a sibling or positive newborn screening test
AND
Sweat test - NaCl conc >60mmol/l
or Genotyping identifying two CF mutations
or Demonstration of abnormal nasal epithelial ion transport (nasal potential difference)

Question 3

What are 4 presentations of CF?

Answer 3

Meconium ileus
Intestinal malabsorption
Recurrent chest infections
Newborn screening

Question 4

What is meconium ileus?

Answer 4

In newborn CF infants the bowel could be blocked by sticky secretions
Signs of intestinal blockage after birth like bilious vomiting, abdo distension and delay in passing meconium

Question 5

What is the main cause of malabsorption in CF?

Answer 5

Severe deficiency in pancreatic enzymes

Question 6

Name some features of CF

Answer 6

Chronic sinusitis, nasal polyp, LRTI, abnormal seat secretions, bronchiectasis, liver disease, portal hypertension, gall stones, pancreatic insufficiency, diabetes, finger clubbing, osteoporosis, male infertility, steatorrhoea, arthritis

Question 7

What are some common complications of CF?

Answer 7

Respiratory infections
Low body weight
Distal Intestinal Obstruction Syndrome (DIOS)
CF related diabetes

Question 8

Why may patients with CF have a low body weight?

Answer 8

Due to pancreatic insufficiency

Question 9

How can you teat low body weight in CF?

Answer 9

Pancreatic enzyme replacement therapy
High calorie intake and extra supplements
NG or PEG feeding

Question 10

What is the difference between DIOS and constipation?

Answer 10

DIOS is faecal obstruction in the ileocaecum vs whole bowel in constipation

Question 11

Why does DIOS occur?

Answer 11

Thick, dehydrated faeces in the distal ileum and proximal colon
Usually due to insufficient prescription of pancreatic enzymes or non compliance
Also salt deficiency/hot weather

Question 12

How does DIOS present?

Answer 12

Palpable RIF mass

Question 13

How is DIOS diagnosed?

Answer 13

Symptoms, RIF mass, AXR showing faecal loading at junction of small and large bowel

Question 14

What is some lifestyle advice for CF patients?

Answer 14

No smoking
Avoid other CF patients
Avoid people with infections 
Avoid jacuzzis due to pseudomomas 
Clean and dry nebulisers thoroughly
Avoid stables, compost etc due to aspergillus
Yearly flu jab
NaCl tablets in hot weather and exercise