Cystic Fibrosis

Introduction:
Cystic Fibrosis(CF) is a genetic disorder that affects
mostly the lungs, but also pancreas,liver,kidney and
intestine

Cause:
 It is autosomal recessive disorder.
 It is caused by a mutation in the gene Cystic
Fibrosis Transmembrane Conductance Regulator
(CFTR).
 Most common mutation ( F508 ) is a deletion
of three nucleotide that results in a loss of amino
acid phenylalanine (F) at 508th position on the
protein.
 CFTR gene found at q31.2 locus of chr.7
Pathophysiology:
The CFTR protein is a channel protein that controls
the flow of water and chlorine ions in and out of cells
inside the lungs. when the CFTRp protein is
malfunctioning, these ions cannot flow out of the cell
due to blocked channel,this causes cystic fibrosis
characterized by the build-up of thick mucus in the
lungs.

Clinical features:
 Salty tasting skin
 Poor growth
 Poor weight gain despite good appetite
 Accumulation of thick,sticky mucus in airway
 Frequent lung infections
 Cough
 Dyspnoea
 Male: infertility due to congenital absence of vas
deference
 New born: bowel obstruction due to meconium
ileus
 Coagulation disorders due to impaired vitamin K
absorption
 Exocrine pancreatic insufficiency
 Cystic fibrosis related diabetes mellitus
 Chronic infection by pseudomonas aeruginosa

Diagnosis:
 New born screening : raised concentration of
immunoreactive trypsinogen in blood
 Sweat testing
 Genetic testing
 Prenatal testing (via chorionic villus sampling)
Management:
 No permanent cure available
 Antibiotics: via IV/peripherally inserted central
catheter/Port a Cath
 Inhaled antibiotic like tobramycin,colistin can
given
 Levofloxacin,Piperacillin for pseudomonas
aeruginosa infection
 Ivacaftor (novel drug)
 Dornase alfa & hypertonic saline for loosen the
mucus secretion
 Physiotherapy
 Last option: lung transplant