Cystic fibrosis, also known in medicine as mucoviscidosis, is a genetic and hereditary disease. Considered a rare disease, it can affect both men and women, and the transmitting gene is passed on through the father and mother, even if they are unaware of the disease and never showed symptoms.

The disease can be diagnosed from birth, after delivery, through the heel prick test and confirmed with a sweat test or genetic testing. There are also cases where it is only discovered later in childhood, or in isolated cases, during adolescence or adulthood when the disease tends to be milder. Unfortunately, cystic fibrosis still has no cure, but there is treatment that can allow the patient to live a normal life, albeit with some limitations.

Cystic fibrosis directly affects the digestive system, respiratory system, and sweat glands, with the main symptom being the accumulation of dense secretions in the airways of the lungs, digestive tract, and pancreas. This mucus is responsible for various lung infections and digestive problems throughout the patient’s life. The main symptoms during childhood, especially in babies, are:

  • Difficulty gaining weight
  • Cough with mucus
  • Unexplained dehydration
  • Intestinal blockage

Over the years, new symptoms may appear even with appropriate and controlled treatment, such as:

  • Severe malnutrition
  • Chronic cough always with a lot of mucus
  • Liver disease (cirrhosis)
  • Diabetes

Other symptoms that may occur as age advances include chronic sinusitis, formation of polyps in the nose area, respiratory infections, and in some cases, infertility. Children with cystic fibrosis often have recurrent episodes of pneumonia, as well as difficulty gaining weight and height. One of the most characteristic symptoms of patients with this condition is saltier sweat, which allows even a simple kiss to taste the skin’s saltiness more than normal, as well as the formation of the fingertips and toes, which tend to become more elongated, known as clubbing.

Cystic Fibrosis – Diagnosis and Treatment

As previously mentioned, cystic fibrosis can be diagnosed from birth through the heel prick test. But if not performed and symptoms appear after a certain age, which specialists are able to diagnose the disease? The doctors qualified to diagnose the disease are general practitioners, human genetics specialists, pulmonologists, and gastroenterologists. For any of these specialties, it is necessary to report all symptoms that are present and seem different or concerning. Also be sure to mention how long they have been occurring, the frequency, and the intensity of all symptoms. Any medications being used should also be disclosed so the situation can be properly assessed. After analyzing the symptoms and asking any other questions deemed appropriate, the specialist will order additional tests to confirm the disease.

The disease may also be diagnosed in older children, adolescents, and adults through the sweat test, genetic test, fat testing in stools, lung function tests, and chest x-ray or CT scan. Assessing pancreatic function, the secretin stimulation test, and chymotrypsin evaluation in stools may also be necessary. The sooner cystic fibrosis is discovered, the more effective the treatment and the better the patient’s quality of life.

Recommended treatment involves a multidisciplinary team that will prescribe appropriate medications for the patient. Antibiotics are used to combat lung infections, inhaled medications to help open the airways and improve the patient’s breathing capacity, enzyme replacement therapy to thin the mucus and facilitate its expulsion, as well as highly concentrated saline solutions for the nostrils. For nutritional and intestinal problems, a special diet rich in proteins and calories may be recommended, with double the amount considered normal. The use of pancreatic enzymes also helps with the absorption of fats and proteins in the body, and vitamin supplements will meet the patient’s needs for vitamins A, E, D, and K.

Some simple precautions can help children diagnosed with cystic fibrosis to have a normal and more enjoyable life. In addition to the recommended treatment, physical activities such as swimming, cycling, and running strengthen the muscles of the rib cage, greatly improving the child’s physical condition. Steps should be taken and exposure avoided to cigarette smoke, dust, mites, and chemical products, including household cleaners. Drinking liquids is essential to hydrate the patient’s body and reduce secretion production. For parents with a child who has cystic fibrosis, let go of the feeling of guilt and never pass it on to them; after all, it is an unavoidable situation just as they inherit their family’s traits, like eyes, hair, and skin color. Face the situation with courage and lots of love – that’s all the child needs!!

See also: Expanded Heel Prick Test – What Diseases Does It Detect

Photo: Paula Ferrari