The main symptoms of cystic fibrosis are a persistent cough with phlegm, saltier sweat, shortness of breath, wheezing, muscle and joint pain and very large stools.
In babies, symptoms of cystic fibrosis can include difficulty gaining weight and growth, yellowing of the skin and eyes, and difficulty eliminating meconium, the first feces that are formed in the baby’s intestine. Find out more about what meconium is.
Cystic fibrosis is a chronic genetic disease that causes the formation of very thick and viscous secretions, mainly in the lungs and digestive tract, and is caused by a change in the CFTR protein, which regulates the functioning of the body’s glands.
Read too: Cystic fibrosis: what it is, symptoms, causes and treatment
Main symptoms
The main symptoms of cystic fibrosis are:
- Persistent cough, with phlegm or blood, caused by the accumulation of thicker than normal secretion in the lungs;
- Sweat saltier than normal, caused by changes in sweat glands that increase chlorine levels. Therefore, this disease is also known as “salty kiss disease”;
- nasal polyps, which is the abnormal growth of the tissue that lines the nose;
- Wheezing or shortness of breath, due to the presence of a greater volume of thick secretions in the lungs;
- Bulky, greasy and foul-smelling stools, caused by blockage of the pancreatic ducts, preventing digestive enzymes from reaching the intestine;
- Digital clubbing, which is lengthening and rounding at the fingertips;
- Muscle and joint pain, caused by inflammation and recurrent infections in the body or nutritional deficiencies;
- Frequent diarrhea or constipation, due to blockage of the pancreatic ducts, which decrease the absorption of fats and nutrients;
- Yellow skin and eyes, caused by blockage of the bile ducts, which prevent the elimination of bilirubin along with the bile;
- Pain and bloating in the belly, caused by problems with the pancreas and the entire digestive system.
Furthermore, people with cystic fibrosis are more likely to have chronic sinusitis, frequent pneumonia and bronchitis, and recurrent lung infections, due to the accumulation of secretion in the lungs and airways.
Men with cystic fibrosis are generally infertile, either because of malnutrition or blockage of the vas deferens, which is the channel that transports sperm from the testicles to the penis.
Cystic Fibrosis Symptoms in Babies
In babies and newborns, the symptoms of cystic fibrosis are difficulty eliminating meconium, difficulty in weight gain and growth, even with good food intake.
In addition, a baby with this disease may also have yellow skin and eyes for a longer period after birth.
How to confirm the diagnosis
The diagnosis of cystic fibrosis is made through the heel prick test, which must be done within 30 days of the newborn’s life. However, to confirm the diagnosis, it is necessary to perform genetic tests and a sweat test, a test that measures the amount of chloride in sweat.
To assess your risk of cystic fibrosis, make an appointment with the doctor closest to you:
When the diagnosis is not made soon after birth, cystic fibrosis can be confirmed through blood tests to identify the mutation responsible for the disease and evaluate specific enzymes that are altered, in addition to chest x-rays and computed tomography.
Cystic fibrosis still has no cure, but early diagnosis and treatment help alleviate the symptoms of this disease, improve the person’s quality of life and prevent it from worsening quickly. Find out how cystic fibrosis is treated.
What is the life expectancy?
The life expectancy of a person with cystic fibrosis varies depending on the type of treatment and the severity of the disease. However, due to advances in treatment in recent years, many people are living 40 years or more with quality of life.
