What is cystic fibrosis? What are the symptoms of the disease?
History of the study of cystic fibrosis has onlyonly a few decades. However, during this time it became clear very much. the genetic nature of the disease was discovered, we studied the mechanisms of pathological processes, open new avenues in the treatment of this disease. This significant progress has led to the fact that they were born some of the myths about this disease.
Cystic fibrosis - (From the Latin mucus - mucus, viscidus -viscous) is the most common hereditary disease that affects all the organs that produce secretions (mucus). It bronchopulmonary system, pancreas, liver, sweat glands, salivary glands, intestinal glands, gonads. Due to a defect (mutation) of the gene secrets in all organs viscous, thick, so their separation difficult. In light of the viscous, often purulent secretions (sputum), trudnootdelyaemogo and accumulates in the bronchi, fairly quickly (sometimes even in the first months of life), develop inflammatory processes - repeated bronchitis and / or pneumonia with the gradual formation of chronic bronchopulmonary process.
The children observed a constant irritant(Sometimes pertussoid) cough, shortness of breath. Due to lack of pancreatic enzymes in cystic fibrosis patients poorly digested food, so these children, despite increased appetite, lagging behind in weight, they have a rich, thick, fetid stools, poorly washed off from the cradle or the pot is prolapse of the rectum. Due to the stagnation of bile in some children develop cirrhosis of the liver, can form gallstones. Moms notice salty taste baby's skin, which is associated with an increased loss of sodium and chloride in sweat.
Cystic fibrosis is the most common hereditarydisease in patients belonging to the Caucasian (Caucasian) population. The frequency of pain among infants in Europe and North America, an average of 1: 2500. There are no conclusive data on Russia yet. Our own indirect calculation showed that in the region of cystic fibrosis rate is 1: 3,000 children. The prevalence of cystic fibrosis in patients with recurrent and chronic lung disease in our area is 4.5%.
There are children with a primary lesionor the lungs (pulmonary form), or the gastrointestinal tract (intestinal form), but more often is mixed (pulmonary intestinal) form of cystic fibrosis.
How to confirm the diagnosis?
If the doctor suspected cystic fibrosis, he is suresend your child to sweat test - the main diagnostic criteria of this disease based on determining the concentration of sweat chloride. A child with cystic fibrosis, the rate is usually higher than normal. Sweat test must be conducted repeatedly (2-3 times). In addition, the doctor will refer your family to donate blood for genetic analysis. This is important not only to confirm the diagnosis, but also for prenatal diagnosis in subsequent pregnancies.
Why is born sick child?
Cystic fibrosis is laid in the genes and is passed onsuccession. Every 20th inhabitant of the planet is a carrier of the defective gene. Cystic fibrosis occurs in a child if he is from both parents (and from my mother and from her father) has received a gene mutation. No natural disasters, illness of parents, their smoking or alcohol intake, stress is not important. Cystic fibrosis is equally common in both boys and girls. For more information on the inheritance of the gene for cystic fibrosis, you can apply to genetic counseling.