Cystic fibrosis (also known as CF for short or mucoviscidosis[1]) is an inherited chronic illness that affects the lungs and digestive systems of certain people. It is estimated that cystic fibrosis affects 30,000 children in the United States and about 70,000 worldwide.[2]
Description[]
Cystic fibrosis is caused by a defective gene, called the cystic fibrosis transmembrane conductance regulator (CFTR gene), which causes the body to produce unusually thick and sticky mucus which clogs the affected's lungs and leads to life-threatening lung infections and other lung related complications. It also affects the pancreas by obstructing it and stops enzymes from digesting and absorbing food taken into the body.[2]
Cystic fibrosis is inherited from the patient's parents. In order to have the disease, a person must inherit two copies of the defective CFTR gene. If both parents are carriers of the disease, their child has a 25% chance of receiving the disease, a 50% chance of becoming a carrier, and a 25% chance of never having either cystic fibrosis or the defective gene.[3]
Symptoms[]
Cystic fibrosis carries with it several common symptoms including salty-tasting skin, persistent coughing (characterized by phlegm), frequent lung infections, shortness of breath, poor weight gain and stunted growth despite a healthy appetite, and frequent greasy, bulky, stool which makes bowel movements difficult.[2]
Diagnosis[]
Around 1,000 new cases of cystic fibrosis are diagnosed each year. More than 70% of these patients are diagnosed by age two.[2] Newborns can also be diagnosed with cystic fibrosis through newborn screening. Doctors who notice the symptoms of cystic fibrosis in a newborn child or an infant will often order a sweat test or a genetic test to confirm or deny the diagnosis.[3]
Improvements in Care[]
While cystic fibrosis remains a terminal illness, the means by which it is treated has significantly improved since it's inception. For example, in the 1950's, very few children with cystic fibrosis lived until they reached elementary school. In the present day, however, medical advances due to extensive research on improved treatments has extended the life span of cystic fibrosis patients significantly, with many patients now being able to live well into their thirties and forties and even beyond in some cases.[2]
Trivia[]
- More than 45% of the CF patient population is 18 years or older.[2]