What is Cystic Fibrosis?
Index
Cystic fibrosis or also known by medicine as mucoviscidosis is a disease of genetic and hereditary cause. Considered a rare disease, it can affect men and women and the transmitting gene is transmitted through the father and mother, even if they are unaware of the disease and have never manifested themselves.
The disease can be diagnosed from birth, after childbirth by carrying out the baby ‘s foot test and proven in the sweat test or in carrying out genetic tests. There are also cases that are only discovered in early childhood or in isolated cases in adolescence and adulthood, being the mildest disease. Unfortunately, cystic fibrosis still has no cure, but it has a treatment that can offer a normal life to the patient, obviously with its limitations.
Cystic fibrosis directly affects the digestive, respiratory and sweat glands , the main symptom being the accumulation of dense secretions in the lungs, digestive tract and also in the pancreas. This mucus is responsible for several lung infections and digestive problems throughout the patient’s life. Its main symptoms during childhood, mainly in babies are:
- Difficulty gaining weight
- Cough with discharge
- Cause dehydration
- Bowel congestion
Over the years, new symptoms may occur even following the appropriate and controlled treatment, which are:
- Severe malnutrition
- Chronic cough always with a lot of secretion
- Liver disease (cirrhosis)
- Diabetes
Other symptoms that can be affected as you get older are chronic sinusitis , the formation of polyps in the nose , respiratory infections and in some cases infertility. Children who suffer from cystic fibrosis usually present with repetitive pneumonia , in addition to the difficulty in gaining weight and height. One of the most characteristic symptoms of patients with the problem is the saltier sweat that allows a simple kiss to taste the saltier than normal skin taste, in addition to the formation of the fingertips and toes, which tend to be more elongated gaining the name of clubbing.
Cystic Fibrosis – Diagnosis and Treatment
As we have previously reported, the diagnosis of cystic fibrosis can be made from birth through the heel prick test, but if not done and the symptoms will appear after a certain age, who are the specialists who can diagnose the disease? Physicians able to diagnose the disease are general practitioners, specialists in human genetics, pulmonologist and gastroenterologist. For any of the specialties, it is necessary to report all symptoms presented and considered different and worrying. In addition to informing how long it has been occurring, the frequency and intensity of all symptoms. Medicines used must also be informed for the assessment of the condition correctly. After analyzing the symptoms and other medical questions that he deems relevant, the specialist will request additional tests to prove the disease.
The diagnosis of the disease can already be carried out in older children, adolescents and adults through the sweat test, genetic test, fecal fat test, lung function test and x-ray or chest tomography. In addition to the measurement of the functioning of the pancreas, the secretin stimulation test and the evaluation of chymotrypsin in feces. The sooner cystic fibrosis is discovered, the more effective the treatment will be and the better the patient’s quality of life.
The indicated treatment is carried out by joining several specialists who will indicate the appropriate medications for the patient. Antibiotics are used to fight pulmonary infections, inhaled drugs to help and open the airwaysimproving the patient’s breathing capacity, enzyme replacement therapy in order to thin the mucus and making it easier to expel, in addition to high concentration saline solutions to the nostrils. For the treatment of nutritional and intestinal problems, a special diet rich in proteins and calories can be directed, with twice the amount considered normal. The use of pancreatic enzymes also assists in the absorption of fats and proteins in the body, in addition to vitamin supplements that will supply the needs and absences of such vitamins as A, E, D and K.
Some simple care can help the child diagnosed with cystic fibrosis to have a normal and more pleasant life. In addition to the indicated treatment, the practice of physical sports such as swimming, cycling and running strengthens the muscles of the rib cagegreatly improving the child’s physical condition. Care with cigarette smoke, dust, mites and chemicals including household products should be taken and avoided. Fluid intake is essential to hydrate the patient’s body and decrease secretion production. For dads who have a child with cystic fibrosis, let go of the feeling of guilt and never pass it on to them, after all it is an inevitable situation just as he has received traces from his family, such as eyes, hair and skin color. Face the situation with determination and lots of love, that’s all the child needs !!
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My name is Dr. Alexis Hart I am 38 years old, I am the mother of 3 beautiful children! Different ages, different phases 16 years, 12 years and 7 years. In love with motherhood since always, I found it difficult to make my dreams come true, and also some more after I was already a mother.
Since I imagined myself as a mother, in my thoughts everything seemed to be much easier and simpler than it really was, I expected to get pregnant as soon as I wished, but it wasn’t that simple. The first pregnancy was smooth, but my daughter’s birth was very troubled. Joana was born in 2002 with a weight of 2930kg and 45cm, from a very peaceful cesarean delivery but she had already been born with congenital pneumonia due to a broken bag not treated with antibiotics even before delivery.