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Cystic fibrosis - a genetic disease
Cystic fibrosis is one of the most common genetic diseases in humans. It is estimated that every 25 person carries his or her gene, but most have no idea about it. There are at least 1500 gene mutations responsible for the disease.
If both the mother and father of the child are carriers of the defective gene, the child will most likely be born sick. Cystic fibrosis in children occurs in both boys and girls. Is a congenital disease.
The disease involves malfunction of the glands and the presence of thick secretions, forming mucous plugs in the respiratory, digestive and reproductive systems. The symptom is disturbed electrolyte transport, dense, adhesive secretions in the bronchi. The consequence, however chronic inflammation caused by bacterial growth and irreversible lung damage. The problem is that mucus blocks important substances necessary for digestion, as a result of which digestion is not effective, nutritional deficiencies occur and growth inhibits.
How is cystic fibrosis diagnosed?
Cystic fibrosis can already be recognized in early pregnancy, between 8 and 12 weeks of pregnancy. Unfortunately, a negative result cannot guarantee that your child will not be ill. The pregnancy test detects a maximum of 70 mutations, and cystic fibrosis is diagnosed in 1300.
You can also do genetic test, which allows you to detect the most common gene mutation responsible for the emergence of the disease. The study allows you to assess the risk of having a child with CF.
Currently in Poland (from June 1, 2009) all newborns are screened for cystic fibrosis (blood sampling on special paper. During one test, cystic fibrosis and phenylketonuria diagnostics are performed). Only parents whose children are at risk because of a result exceeding the norm receive the test results. The results should arrive before the child is 3 weeks old. If the results are correct, parents do not receive any messages. Thanks to screening tests, it is much faster to diagnose the disease (although the examination of newborns, unfortunately, does not give 100% certainty). Prior to mandatory testing, the average age at diagnosing cystic fibrosis was 3.5-5 years. Early diagnosis gives the chance for a long life.
The sooner the disease is diagnosed, the greater the chance for the child's proper development. Children who have not had an examination in the neonatal period or those who have disturbing symptoms can be performed sweat test, which involves determining the concentration of sweat chloride. The test should be performed twice.
Cystic fibrosis in children: symptoms
Degree of severity of CF symptoms depends on the type of gene mutation, which is necessary for the development of the disease. Cystic fibrosis may have classical or atypical course. Symptoms most often appear right after birth or in early childhood, only in a few situations do symptoms develop during adolescence or adulthood.
The disease can be mild or severe. Symptoms may affect several systems or only one organ. The most common are:
- changes in the respiratory system: formation of sticky, difficult to remove secretions,
- paroxysmal wet cough of a chronic nature,
- recurrent pneumonia and bronchitis,
- very salty sweat of a child,
- obstructive pneumonia,
- breathing difficulties,
- loud breath with wheezing,
- polyps in the nose
- chronic sinusitis
- problems with the pancreas - diabetes and glucose intolerance.
- stomach pain, bloating, diarrhea or constipation
- foul-smelling, abundant stools.
- lack of meconium excretion - one of the first and more important symptoms of newborn cystic fibrosis, it can affect up to 20% of children with cystic fibrosis,
- bloated stomach,
- profuse vomiting
- slow growing
- insufficient weight gain,
- prolonged neonatal jaundice,
How is cystic fibrosis treated?
The fight against cystic fibrosis is long and difficult. Cystic fibrosis is a chronic disease that requires constant medical supervision and during periods of exacerbation of hospitalization. Many respiratory infections usually end with antibiotics.
Unfortunately, a complete cure for cystic fibrosis is not possible. However, medicine is developing so quickly that it cannot be ruled out that new treatments for cystic fibrosis will arise.
Cystic fibrosis in children is treated by administering lliquefying secretions in the bronchi. In addition, in the event of problems with the pancreas, the sick person must take enzymes and vitamin preparations that support digestion.
Inhalations and drainages are also performed more and more often.
The most important thing about cystic fibrosis treatment is early diagnosis. Untreated disease leads to death.