The Basics of Cystic Fibrosis

Cystic Fibrosis (CF) is an autosomal recessive genetic disorder. It mainly affects the lungs; however, it can also affect the kidneys, pancreas, liver, and intestines. It can cause severe damage to both the lungs and the intestines. Some of the most common symptoms include a persistent cough (with thick mucus production), wheezing, shortness of breath, persistent lung infections, a stuffy nose, foul-smelling stool, delayed weight gain/growth, and constipation.

Cystic Fibrosis elicits harm by targeting specific cells of the body that produce mucus, sweat, and digestive juices.  Normally, all of these fluids are vey thin and slippery. However, the defective gene in those with CF causes these fluids to become very thick and sticky. In this manner, the fluids are no longer able to circulate through and exit the body as effectively. Instead, they will begin to block varying tubes and passageways (especially in the lungs and pancreas).

Unfortunately, there is no cure for Cystic Fibrosis. However, improvements have been made and many people who receive this diagnosis are now able to live into their 20s and 30s. CF is diagnosed in early childhood (usually by age 2) and is more common in Caucasians of Northern European ancestry. You should consult a doctor if your child is not growing properly despite adequate nutrition, has a persistent cough with mucus production, is suffering from lung/sinus infections, or has frequent foul-smelling stools that are sticky and greasy.

If you know that Cystic Fibrosis runs in your family, prenatal screening and genetic testing are great options to obtain an early diagnosis and to begin discussing treatment options.

References:
Cystic Fibrosis Foundation - Home. (n.d.). Retrieved January 10, 2015, from http://www.cff.org/

Cystic fibrosis. (n.d.). Retrieved January 10, 2015, from http://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/basics/definition/con-20013731

What Is Cystic Fibrosis? (n.d.). Retrieved January 11, 2015, from http://www.nhlbi.nih.gov/health/health-topics/topics/cf