Cystic Fibrosis

Question 1

Pathophysiology

Answer 1

Autosomal recessive mutation in CFTR gene for Cl transporter.
Causes thick secretions in GI/ Resp Tract
Can cause infertility in males

Question 2

Diagnosis

Answer 2

Phenotype
positive heal prick test
Sibling History
positive sweat test
2 or more gene mutations
nasal potential difference

Question 3

Symptoms

Answer 3

Meconium ileus
Recurrent LRTI
Intestinal malabsorbtion

Question 4

Complications

Answer 4

DIOS
Low BMI
Bronchiectasis
Diabetes
osteoperosis
gallstones
Infertility (males)

Question 5

Treatment

Answer 5

Avoid smoking
Avoid other CF
Avoid unwell people
Avoid stables (ABPA)
Avoid jacuzzi (Psudomonas)
Mucolytics (NEB SABA)
Long term Antibiotics

Creon
Diabetes control (1/3 Insulin)
Vitamin A,D,EK
PEG/NG Feed

CFTR Modulators
NaCl Tablets
Regular monitoring (Pancreas, Liver, Lungs, Osteoperosis)