Cystic Fibrosis
Daniela Strasser
Pubudu Wanni Arachchige

What is it?
´Cystic Fibrosis is a heredity disease that affects the lungs, the digestive tract, pancreas, liver
and kidneys
´The body produces thick and sticky mucus and secretions that can clog the lungs and obstruct the
pancreas
´Different people have different degrees of symptoms
´There is no known cure
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Etiology
´CF is due to a mutation in the CF gene on chromosome 7
´The CF gene encodes a protein known as the cystic fibrosis transmembrane regulator (CFTR), which
is a chloride channel essential in production of sweat, digestive juices and mucus.
´The abnormal CFTR protein in the patients with the disease leads to disruption of this chloride
channels on the cells

Etiology
´Chloride channel disruption prevents them from regulating the flow of chloride ions and water
across the cell membranes
´As a result, cells that line passageways of lungs, pancreas, etc. produce mucus that is unusually
thick and sticky, clogging the airways and various ducts
´Several mutations of the gene can occur, which determines the severity of the symptoms

Etiology
´The disease is inherited autosomally recessive
´It means that the parents each carry one copy of the mutated gene but they don't show signs and
symptoms
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Symptoms
´Salty-tasting skin
´Persistent coughing
´Shortness of breath and wheezing
´Malnutrition and poor growth due to obstruction of the pancreatic digestive enzymes, which cause
pancreatitis
´CF’s obstruction of the lungs and impaired mucociliary clearance increase the risk of lung
infections (bronchitis and pneumonia)
´Increased risk of diabetes and osteoporosis
´Infertility (male – congenital absence of vas deferens)
´Meconium ileus in newborns
´

Epidemiology
´CF is the most common life-limiting autosomal recessive disease among people of European heritage
´around 1 in 25 people of Northern European descent and 1 in 30 of Caucasian Americans is a carrier
of a CF mutation
´Although technically rare, CF is ranked as one of the most widespread life-shortening genetic
diseases

Diagnosis
´Newborn screening using a genetic test or a blood test. The genetic test shows whether a newborn
has faulty CFTR and the blood test shows newborn’s pancreas function
´Sweat test: doctor triggers sweating by applying pilocarpine on skin and then he uses and
electrode to provide a mild electrical current to deliver the medication through he skin. The sweat
is collected on a pad/paper and then analyzed . High levels of salt confirm diagnosis of cystic
fibrosis
´Couple planning for pregnancy or are expecting can test for CFTR mutations and calculate the risk
for the child

Treatment
´There is definite cure but management of the disease can allow survival well into adulthood
´Antibiotics: many CF-patients are on one or more ATB at all times, even when healthy, to
prophylactically suppress infection
´Airway clearance: for example postural draining and percussion to get rid of mucus in lungs, chest
physiotherapy
´Aerosolised medication loosen secrections like hypertonic saline

Treatment
´Nutritional therapy: pancreatic enzyme supplements, vitamin supplements
´Ibuprofen and azithromycin have been found to preserve and improve lung function
´CFTR modulators: newer drugs targeting faulty CF-causing gene
´Lung transplant

Sources
´https://www.medicalnewstoday.com/articles/147960#treatment
´https://www.medicinenet.com/cystic_fibrosis/article.htm
´https://www.cff.org