cystic fibrosis
Cystic fibrosis is a life-threatening disease that causes severe damage to the lungs and digestive system
Cystic fibrosis is an inherited disease and affects cells that produce mucus, sweat, and secrete digestive juices. These secreted fluids are normally thin, but in cystic fibrosis, due to a defective gene, the secretions in the body become thick and sticky. As a result, instead of lubrication, secretions become clogged in tubes, ducts, and passages, especially in the lungs and pancreas.
Cystic fibrosis is most common in white Northern Europeans, but also occurs in Latin Americans, African Americans, and Native Americans. The disease is rare in Asia and the Middle East
With cystic fibrosis, patients need daily care, but most of the time they are able to go to school or work, and have a better quality of life than before the development of medicine. Recent advances in screening and treatment have allowed patients to live longer—mostly 20–30 years and sometimes 40–50 years.
In cystic fibrosis, due to a gene mutation, a defective protein is formed, which normally regulates the movement of salts into and out of the cell. As a result, thick, sticky mucus forms in the organs of the respiratory, digestive and reproductive systems, and the amount of salt in sweat increases. Many types of mutations can occur in a gene The type of mutation is associated with the severity of the disease
The damaged gene, which the child receives from the parents, is recessive A child must receive one gene variant from both parents to get the disease If a child has only one variant, the disease will not develop, but the child will be a carrier and may pass the defective gene on to their children.
Cystic fibrosis signs and symptoms vary depending on the severity of the disease Even in the same person, symptoms will get worse and worse over time In some children, symptoms begin in infancy, and some patients do not develop the disease until adolescence or adulthood
Screening for cystic fibrosis in newborns is performed in all US states As a result, in the United States, the disease is diagnosed in the first month of life, before symptoms appear If screening is not carried out in your country or the patient was born before the introduction of screening, it is necessary to know the symptoms of the disease
During cystic fibrosis, more salt than normal is released in sweat Parents sometimes feel the taste of salt when kissing their baby Other symptoms mainly involve the lungs or the digestive system
Airway signs and symptoms Thick and sticky mucus becomes clogged in the airways Air can no longer move freely The consequences of these processes are:
- Prolonged cough with thick sputum and mucus
- Wheezing
- Shortness of breath
- Reduced ability to exercise
- Frequent infections in the lungs
- Inflammation of the nasal cavity, protection
Without digestive juices, the intestine cannot fully absorb nutrients The consequences of these processes are:
- Unusually foul-smelling, greasy stools
- Lack of weight gain and growth
- Intestinal obstruction, especially in infants
- Severe constipation
- Frequent straining may cause the rectum to descend into the anus-rectal When it occurs in children, it may also mean cystic fibrosis Parents should take their child to a doctor who also works with cystic fibrosis Rectal prolapse sometimes requires surgical intervention
When to see a doctor
See a doctor if your child:
- is not growing normally
- often coughs with mucus-like sputum
- often has lung or sinus infections
- often has
