cystic fibrosis
DESCRIPTION
TRANSCRIPT
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