cystic fibrosis
mutation,diagnosis,complications,treatment

CFTR gene on chromosome 7
autosomal recessive
(CTFR codes Cl-channel secreting Cl in lung and GI tract, reabsorbing Cl in sweat glands)
☆misfolded CFTR membrane protein

↑Cl concentiation in pilocarpine induced sweat test

recurrent pulmonary infection,pancreatic insufficiency→malabsorption with steatorrhea(fat containing stool),meconium ileus in newborn,infertility,nasal polyps,digital clubbing


nutrition & healthy weight gain
pulmonary physiotherapy

biochemistry