6. Cystic Fibrosis

Question 1

What is cystic fibrosis

Answer 1

Autosomal recessive genetic predisposition that causes damage to the mucocillary escalator among other parts of the body. This leads to chronic pulmonary infections and bronchiecstasis

Question 2

Explain the pathophsiology behind CF.

Answer 2

Mutations in the CFTR gene. This causes defective chloride secretion and affects all mucousal surfaces in the body.

Question 3

Describe the clinical features of CF in neonates

Answer 3

Failure to thrive, meconium ileus, rectal prolapse

Question 4

Describe the respiratory features of CF in children and young adults

Answer 4

cough wheeze, recurrent infections, bronchiecstasis, pneumothorax, heamoptysis

Question 5

What other organ systems are affected by CF?

Answer 5

GI- pancreatic insufficiency, gallstones, intestinal obstructions

Male infertility, osteoporosis, arhtirits, vasculitis

Question 6

What are the clinical signs of CF?

Answer 6

Cyanosis, finger clubbing, bilateral course crackles

Question 7

What tests can be done to diagnose CF?

Answer 7

Sweat test- sodium and chloride. Typically sodium>chloride

sweat chloride concentration of 60 millimoles per liter (mmol/L) or more indicates a diagnosis of CF, and a concentration of less than 30 mmol/L indicates that CF is unlikely regardless of age

Question 8

How do you screen for exocrine pancreatic dysfunction?

Answer 8

Faecal elastase

Question 9

What specialities are involved in the treatment of CF?

Answer 9

Phsyiotherapists
CF nurses
Dieticians
Gi Dr's
Respiratory physicians
Psychiatrists

Question 10

How are problems with the chest avoided and managed?

Answer 10

Prophylactic antibiotics-?
MucolytIics e.g. dornase alfa (a DNAase) or nebulised hypertonic saline
Bronchodilators

Question 11

How are problems with the GI system avoided and managed?

Answer 11

Pancreatic enzyme replacement
Fat soluble vitamin supplemants (A,D,E,K)
Ursodexycholic acid if impaired liver function (for gallstones)

Question 12

What other problems are screened for in CF?

Answer 12

OGTT for diabetes after age 12
DEXA bone scan for osteoporosis
Arthritis, vasculitis screening
Fertility and genetic counselling

Question 13

What treatments are there for CF in advanced lung disease?

Answer 13

Oxygen, diuretics, (cor pulmonale), NIV, lung/heart transplant.

Question 14

What new treatments are there for CF

Answer 14

Ivacaftor and lumacaftor are drugs given in combination to act on specific proteins and genes. They act to increase probablities of channels opening and of surface proteins being present.

Gene therapy is a promising yet understudied area of CF treatment.