Dr Tamara Diamond
Our very own paediatrics reg!
Video Duration: 1329 minutes
Cystic fibrosis is an autosomal recessive condition that affects multiple organs, primarily respiratory and pancreatic systems
It is the most common life-threatening autosomal disorder, with 1 in 25 people being carriers in the caucasion community, and 1 in 2500 life births having the disease
Caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene. CFTR is a glycoprotein which is found in epithelium cells of airways, ducts of pancreas, sweat glands, biliary system and vas deference. The glycoprotein is an ATP regulated chloride channel. Loss of function results in decrease excretion of chloride and increased resorption of sodium.
Results in viscous secretions in respiratory tract, pancrease, gastrointestinal tract, sweat glands and other exocrine tissue.
Most common mutation is in F508 of CFTR gene
IRT newborn screen
FBE, coagulation, UEC, LFT
Fat soluble Vitamin levels
Sweat test -quantitative pilocarpine iontophoesis test