The most common mutation, called delta F508 (ΔF508), occurs in 68-75% of sufferers worldwide.The disease is transmitted autosomal recessive; the affected person has two copies of the altered CFTR gene, which he inherited from each of his parents, which is a healthy carrier of the disease.Importance of genetic testing in cystic fibrosis.
Prenatal genetic testing is recommended for couples who:he had a sick child.,in which one of the partners is involvedthey have a family history of cystic fibrosis. For couples where both partners are carriers (they have only one copy of the diseased gene), the chance of having a healthy and unborn child is 25%, a healthy and carrying child is 50%, a sick child is 25%.
These opportunities apply to every task
These opportunities apply to every task. CauseCystic fibrosis occurs when a child inherits a pathological gene (i.e. affected by the disease) from both parents. It is called the cystic fibrosis gene and encodes a pathological protein that regulates transmembrane cystic fibrosis (CFTR). CFTR causes an imbalance in the regulation of the transmembrane flow of water and salt, leading to the secretion of drier and denser mucus.
- These secretions make it impossible to clear organs and keep them in good condition, especially the lungs.If a child inherits the CFTR gene from a single parent, they will not develop cystic fibrosis but will be a carrier. This means it can spread the disease to children.
- A lot of people don’t know they have the CFTR gene. The parent of a child with cystic fibrosis should be aware that they are not to blame for the child’s illness. RISK FACTORS Cystic fibrosis is a genetic disease. Specifically, cystic fibrosis is an autosomal recessive disease.
This means that to develop the disease it is necessary to inherit the gene from both parents.If a person inherits the gene from a single parent, they will not develop the disease but become a carrier. Carriers can pass the cystic fibrosis gene on to their children.If a Caucasian woman is planning to become pregnant, she should seek medical advice, especially if there are people in her family with this disease.
The disease is much more common in people of Caucasian descent than in other populations.I don’t lead to cystic fibrosis, diet, exercise, smoking, living environment. The fact that a person has cystic fibrosis changes behavior toward their environment (unrelated to smokers) or behavior (as a balanced diet) and can help to lead a better life.
Carriers can pass the cystic fibrosis gene
SymptomsThe symptoms of cystic fibrosis are caused by the production of sticky mucus with an increased consistency. Symptoms vary from person to person and are often not seen in childhood.Symptoms of cystic fibrosis in an infant or young child include:- small intestinal obstruction called tar obstruction or tar obstruction (characteristic of the newborn)- salty and moist skin- loss of appetite (lack of appetite), weakness or weight loss. It’s called a failure in development.- unusual bowel movements.
It can include persistent diarrhoea, bulky stools with high fat content (fatty diarrhoea), bad breath or constipation. In case of intestinal obstruction, the baby’s abdomen may protrude and intestinal movements do not occur- difficulty breathing or early tiredness during play- persistent cough or wheezing (wheezing))- wet cough with mucous sputum and sometimes with blood (haemoptysis)- difficulty in exertion or inability to exercise rectal prolapse, when part of the rectum falls out through the anus.
Related symptoms may appear in childhood in late or early adulthood:- digital hippocracy (distortion of fingertips, bulges and flattening)- nasal and sinus polyps (tumors))- infertility (inability to have children).
Typical episodes: has a severe or worsening cough
SPECIAL CONSULTATIONEarly diagnosis and treatment of cystic fibrosis is very important. It is recommended to ask your doctor if your child has:- common lung infections( pneumonia), colds, persistent cough, shortness of breath or wheezing- cough with blood secretion- does not gain or can not maintain weight- has large stools, high fat content or diarrhoea- has salty or moist skin- easily tired with moderate exercise- digital hippocracy (deformed and flattened fingers).If the condition of a child with cystic fibrosis worsens, it is recommended to consult a specialist.
Typical episodes:- has a severe or worsening cough- ma de novo or worsening wheezing- he has more breathing problems than usual.- has lost weight or is not gaining weight without any explanation he has symptoms indicating a serious parent problem.PreventionCystic fibrosis is a genetic disease that cannot be prevented. However, people with cystic fibrosis can prevent more serious diseases, such as lung infections, by:- current vaccinations.
Children with cystic fibrosis should have up-to-date all recommended vaccines except pneumococcal and flu vaccines- avoiding smoking and cigarette smoke- use of airway cleaning methods such as postural drainage and chest blows- nutritious and high-calorie diet- regular checks, frequent examinations and adherence to therapeutic recommendations.Where possible, specialist treatment is recommended in a specialist clinic.
Cystic fibrosis causes changes in many parts of the body
Neonatal screening for cystic fibrosis should be carried out in the first month of life, before symptoms develop. For people born before newborn screening, it is important to be aware of the signs and symptoms of cystic fibrosis. Cystic fibrosis causes changes in many parts of the body, including the lungs, pancreas, liver, intestines, sinuses, reproductive system and sweat glands.Signs and symptoms of cystic fibrosis vary depending on the severity of the disease. Even in the same person, symptoms can get worse or better over time. Some people may not have symptoms until puberty or adulthood.
People with cystic fibrosis have higher than normal salt levels in their sweat.
Parents can often taste salt when kissing their children. Most other signs and symptoms of cystic fibrosis concern the respiratory and digestive systems . However, adults diagnosed with cystic fibrosis are more likely to have unusual symptoms such as recurrent bouts of pancreatitis (pancreatitis), infertility and recurrent pneumonia .Signs and symptoms of the respiratory systemDense, sticky mucus associated with cystic fibrosis clogs the ducts that supply air to and from the lungs.
This can cause signs and symptoms such as:Persistent cough that produces dense mucus (sputum))WhistlingExercise intoleranceRecurring lung infectionsNasopharyngitis or blocked noseSigns and symptoms of the gastrointestinal tractThe dense mucus can also block the tubes that carry digestive enzymes from the pancreas to the small intestine. Without these digestive enzymes, your gut won’t be able to fully absorb nutrients from the food you eat.