Causes of Cystic Fibrosis

A defect in the CFTR gene causes cystic fibrosis (CF). This gene is responsible for making a protein. In people who have CF, the gene makes a protein that doesn't work well. This causes thick, sticky mucus and very salty sweat.

Cystic Fibrosis is Inherited

 cystic fibrosis is inherited A person inherits two copies of the CFTR geneone
from each parent. If each parent has a normal CFTR gene and a faulty CFTR gene, each child has a 25 percent chance of inheriting two normal genes; a 50 percent chance of inheriting one normal gene and one faulty gene; and a 25 percent chance of inheriting two faulty genes.

How Is Cystic Fibrosis Diagnosed

Newborn Screening Sweat Test Chest X-Ray Sinus x ray Lung function tests A sputum culture Cystic Fibrosis Carrier Testing

Newborn Screening
Newborns are screened for CF using a genetic test or a blood test.

The genetic test shows whether a newborn has faulty CFTR genes.

The blood test shows whether a newborn's pancreas is working properly.

Sweat Test
A doctor will confirm the diagnosis using a sweat test. A sweat test measures the amount of salt in sweat.

Triggers sweating on a small patch of skin on an arm or leg.

The skin is rubbed with a sweat-producing chemical and then an electrode is used to provide a mild electrical current. This may cause a tingling or warm feeling.

Sweat is collected on a pad or paper and then analyzed. High salt levels confirm a diagnosis of CF.

SWEAT TEST

SWEAT TEST

Chest X-RAY
This test creates pictures of the structures in your chest, such as your heart, lungs, and blood vessels. A chest x ray can show whether your lungs are inflamed or scarred, or whether they trap air.

Sinus x ray
This test may show signs of sinusitis, a complication of CF.

Lungs Infection tests

These tests measure how much air you can breathe in and out, How fast you can breathe air out, and how well your lungs deliver oxygen to your blood. In short these test determine the efficiency of lungs functions.

A sputum culture
Take a sample of sputum (spit) to see whether bacteria are growing in it. If there are bacteria called mucoid Pseudomonas , it indicates advanced CF that needs aggressive treatment.

Cystic Fibrosis Carrier Testing

A genetics counselor can test a blood or saliva sample to find out whether you have a faulty CF gene.

This type of testing can detect faulty CF genes in 9 out of 10 cases.