CYSTIC FIBROSIS

BYASLAM MATANIAFACULTY OF MEDICINE GROUP-3

WHAT IS CYSTIC FIBROSIS?

It is a chronic disease passed down through families that affects the respiratory and digestive systems.

Mucous

CAUSES Both parents pass on a defective gene called, cystic fibrosis transmembrane conductance regulator (CFTR). This gene produces a protein that normally helps salt move in and out of the cells. In cystic fibrosis, the protein doesn’t work correctly and the movement is blocked producing a thick, sticky mucous is on the outside of the cell and and very salty sweat.

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If both parents are carriers, there is a 25% chance of inheriting the gene, 50% chance of having a copy and being a carrier, and a 25% of not having or carrying the gene.

In order to inherit CF, one must inherit both copies of the defective CFTR gene from their parents.

SYMPTOMS

• Persistent coughing (at times with phlegm)

• Wheezing

• Increased shortness of breath

• Respiratory illnesses (pneumonia or bronchitis)

• Loss of appetite or weight loss

• Salty-tasting skin

• Frequent lung infections

• Nasal congestion

• Repeated inflammation of the pancreas

 

DIAGNOSIS • Immunoreactive trypsinogen test- doctors measure the

amount of trypsinogen (a protein) in the blood. High level of this protein suggests possible CF and requires further testing.

• Sweat chloride test- standard diagnostic test for CF. Sweat is collected from person's arm or leg and taken to laboratory to be analyzed measuring amount of salt (sodium chloride) in sweat. A high salt level in patient's sweat is sign of the disease.

• Genetic Carrier Testing- used to tell if the person carries one or more mutations of the CF gene and how many copies of each mutation. Looks at person’s DNA (genetic material) from cells that are gently scraped from inside the mouth or cells from a blood sample

EFFECTS• The lungs when mucus builds up and gets stuck in the

airways. This increases risk of infection caused by bacteria.

• The pancreas when mucous blocks ducts causing digestive enzymes to not get into the intestines. Without enzymes, intestines cant properly digest food.

• Sweat glands when too much salt is lost through sweat disrupting the balance of minerals in your body.

• And many more in the intestines, liver, gallbladder and reproductive organs.

TREATMENTS• No cure for cystic fibrosis

• Cystic fibrosis specialty clinics for children and adults

• Chest physical therapy- the patient is repeatedly clapped on the back to free up mucous in chest

• Inhaled antibiotics to kill the bacteria that cause lung infections

• Gene therapy- healthy CFTR gene is inserted into the lung cells of a patient to correct the defective gene

• Exercising two or three times each week

• Take enzymes everyday with meals to make sure food is digested

PROGNOSIS• Most children are fairly healthy until they reach adulthood, but

most are able to finish college or find employment

• Can attend school and are able to participate in majority of activities

• Average life span for people who live to adulthood is about 37 years…depends on the severity of disease and parts of the body involved

• Death most likely caused by lung complications

STATISTICS • About 2,500 babies are born with CF in the U.S. each year

• More than 10 million Americans carry the CF gene but don't know it

• 1 of every 3,600 Caucasian children is born with CF

• 1 of every 17,000 African Americans is born with CF

• 1 of every 90,000 Asian Americans is born with CF

Current ResearchCurrent Research• Kalydeco- FDA approved in 2012, is the first drug

available that targets the underlying cause of CF. • Hypertonic Saline is an inhaled therapy that

increases hydration of airway surface liquid with CF. • The CF foundation is maintaining a robust pipeline

of potential therapies that target the disease from every angle.

Board, A.D.A.M. Editorial. "Cystic Fibrosis." Cystic Fibrosis. U.S.

National Library of Medicine, 18 Nov. 0000. Web. 19 Oct. 2012. <http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001167/>.

 

"What Is Cystic Fibrosis - CF Foundation." What Is Cystic Fibrosis - CF Foundation. N.p., n.d. Web. 19 Oct. 2012. <http://www.cff.org/AboutCF/Testing/NewbornScreening/WhatisCF/>.

 

"KidsHealth." Cystic Fibrosis. N.p., n.d. Web. 19 Oct. 2012. <http://kidshealth.org/parent/medical/lungs/cf.html>.

 

Genetic Science Learning Center. "Cystic Fibrosis." Learn.Genetics 19 October 2012 <http://learn.genetics.utah.edu/content/disorders/whataregd/cf/>

 

"Cystic Fibrosis Symptoms, Causes, Treatment - What Are Other Names for Cystic Fibrosis? on MedicineNet." MedicineNet. N.p., n.d. Web. 19 Oct. 2012. <http://www.medicinenet.com/cystic_fibrosis/page2.htm>.

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