CYSTIC

FIBROSIS
SUBMIT BY DANISH ALI
GROUP-55
 DEFINITION
• Cystic Fibrosis (CF) is a life-threatening
genetic disorder that primarily affects the
respiratory and digestive systems.CF is
caused by mutations in the Cystic
Fibrosis Transmembrane
• Conductance Regulator (CFTR)
gene.This gene is responsible for
regulating the movement of salt and
water in and out of cells, but when
mutated, it leads to the production of
thick and sticky mucus in various organs.
 GENETICS
• CF is inherited in an autosomal recessive
manner, meaning both parents must be carriers
of the CFTR gene mutation to have an affected
child.
• Carrier parents have one normal and one
mutated CFTR gene, and there’s a 25% chance
of having an affected child with each
pregnancy.
• Various CFTR gene mutations can result in
differing severity of the condition
 SY MPTO MS A N D
D IA G N O SIS
• Common symptoms of CF include persistent cough,
recurrent lung infections, digestive problems
(malabsorption and pancreatic insufficiency), and
salty-tasting skin due to high salt content in sweat.
• Diagnosis often involves a sweat test to measure
sweat chloride levels. Genetic testing is also used to
identify specific CFTR gene mutations.
• Early diagnosis is crucial for timely intervention
and improved outcomes.
 EPIDEMIOLOGY
• CF is most common in people of European
descent, but it can affect individuals of all races
and ethnicities.
• Prevalence varies by region, with higher rates
in North America and Europe.
• Improved screening and awareness have led to
earlier diagnoses and better outcomes in recent
years.
 TREATMENT
• CF management is multidisciplinary, involving
pulmonologists, dietitians, and other healthcare
professionals.
• Treatment includes airway clearance
techniques to help clear mucus, medications to
improve lung function, and pancreatic enzyme
replacement to aid digestion.
• Nutritional support is crucial for CF patients to
maintain a healthy we
 R E SE A R C H A N D
A D VA N C E ME N T S
• Ongoing research focuses on developing new
therapies, including CFTR modulator drugs
that target specific mutations.Recent
advancements in precision medicine have
shown promising results in improving CF
patients’ quality of life.The goal is to find a
cure and improve treatment option
THANK YOU