Cystic fibrosis

Cystic Fibrosis

Michelle Rhine

Also known as CF

Causes The most

common cause is the absence of three base pairs in the DNA

This is the most common mutation

TransmittedInherited from parents

It is not communicable

Who gets CF?1 in 29 Caucasian Americans

have the CF gene but do not have any symptoms

To have the symptoms of CF, a person must inherit two defective CF genes- one from each parent

Most children are diagnosed by age 2

Most common, deadly, inherited disease of Caucasians in the U.S.

EtiologyNo incubation period

SignsDelayed growthWeight lossIncreased coughingChronic lung

infections

Etiology Continued

SymptomsNauseaNasal congestionSinus pain or

pressureStomach painFatigueLoss of appetiteFeverIncreased sweat

production

DiagnosisBlood test to look for variation

in the gene known to cause CF

Immunoreactive trypsinogen (IRT) test screens newborns and a high level of IRT suggests possible CF

Sweat Chloride Test is the standard test for CF. A high salt level in the person’s sweat is a sign of the disease

Pathophysiology Chronic disease

Pulmonary, gastrointestinal, heart, and reproductive problems are all common

PulmonaryChronic infections of the

lungemphytsemaprogressive respiratory

insufficiency

HeartPulmonary Heart DiseaseOverproduction of red

blood cells

Gastrointestinalpancreatic

insufficiencyintestinal

obstructioncirrhosis of the

liver

Reproductive98% infertility in

males

Prognosis and Treatment

There is no cure or a way to prevent Cystic Fibrosis

The average life span is approximately 35 years

Death is usually caused by lung complications

Treatment includesAntibiotics Inhaler medicinesOxygen therapyDiet high in protein and

caloriesPancreatic enzymesVitamin supplements