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Testing for Genetic Disorders
CYSTIC FIBROSIS
Signs & Symptoms: Cystic Fibrosis
The signs and symptoms of cystic fibrosis can vary greatly. In general, these are the most common features of CF.
Lung Complications
Gastrointestinal Complications
Fertility Issues
Lung Complications
- Persistent cough, excessive phlegm
- Wheezing, shortness of breath
- Frequent lung infections
- Chronic bronchiectasis – when the build-up of mucous causes the bronchi (branches in the lungs) to lose elasticity and therefore not function properly.
- Chronic sinusitis or asthma (may be caused by mild disease)
- Progressive lung deterioration
Gastrointestinal Complications
- Poor absorption of nutrients
- Large appetite with poor weight gain
- Poor growth
- Greasy, thick stools
- Chronic pancreatitis (inflammation)
- Meconium ileus (obstructed intestine in newborns)
Fertility Issues
- About 98 percent of men with CF are born with congenital bilateral absence of the vas deferens (CBAVD). CBAVD causes infertility because even though the sperm are present, part of the pathway to release the sperm is missing.
- CBAVD can occur in men who do not have a current diagnosis of CF.
- 64 to 72 percent of these men are found to have at least one genetic change in the CFTR gene.
- 19 percent of these men are actually found to have two genetic changes in the CFTR gene.
- Women with CF can bear children, but they can experience reduced fertility and pregnancy complications.
These signs and symptoms can vary from person to person in severity, the age when they appear, as well as the extent of treatment required and long-term prognosis.
A HUMAN TOUCH
Our Genetic Experts
Genetic tests personalized to you backed by our expert insights.
Meet Lisa Kessler, M.S., CGC
Senior Genetic Counselor
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