• What is fiberglass? What are the signs of the disease?
  • How to confirm the diagnosis
  • Why a sick child is born?

  • What is fiberglass? What are the signs of the disease?

    MukobovysidosisThe history of the study of the fibrosis has only a few decades. However, during this time, it became clear a lot. The genetic nature of the disease was opened, the mechanisms of the pathological process were studied, new directions were opened in the treatment of this disease. Such significant progress led to the fact that some myths about this disease were born.

    Mukobovysidosis - (from Latin MUCUS - mucus, viscidus - viscous) The most common hereditary disease in which all organs are affected by the secrets (mucus). This is a bright power system, pancreas, liver, sweat glands, salivary glands, intestinal glands, sex glands. Because of the defect (mutation), the genes of secrets in all organs viscous, thick, so their allocation is difficult. In the lungs due to viscous, often purulent secret (sputum), difficult and accumulating in bronchi, rather quickly (sometimes in the first months of life), inflammatory processes are developing - repeated bronchitis and / or pneumonia with the gradual formation of a chronic bronchopulmonary process.

    Children have a permanent annoying (sometimes Cocktle) cough, shortness of breath. Due to the lack of pancreatic enzymes in patients with fibrosis, food is poorly digested, so such children, despite the increased appetite, are lagging behind in weight, they have a rich, greasy, fetid chair, poorly flushing from a diaper or a pot, is the reveal of the rectum. Due to the stagnation of bile in some children, cirrhosis of the liver is developing, stones in the gallbladder can be formed. Moms notice the salty taste of the baby's skin, which is associated with the increased loss of sodium and chlorine from then.

    Mukobovidosis is the most frequent hereditary disease in patients belonging to the Caucasian (European) population. The frequency of this suffering among newborns in the countries of Europe and North America is an average of 1: 2500. There are no convincing data in Russia yet. Our indirect calculation showed that in our region the frequency of the fibrosis is 1: 3000 children. The prevalence of fibrosis among patients with recurrent and chronic lung diseases in our region is 4.5%.

    Children with preferably defeat or lungs (pulmonary form), or gastrointestinal tract (intestinal form), but most often mixed (pulmonary-intestinal) form of fibrosis is observed.

    How to confirm the diagnosis?

    If the doctor suspected the fibrosis, he will definitely direct your child to a sweat sample - the main diagnostic criterion of this disease, based on the determination of the concentration of sweat chlorides. In a child, patient with fibrosis, this indicator is usually higher than the norm. The sweat test is necessarily reused (2-3 times). In addition, the doctor will send your family to pass the blood for genetic analysis. This is important not only to confirm the diagnosis, but also for prenatal diagnosis in subsequent pregnancies.

    Why a sick child is born?

    Mukobovysidosis is laid in genes and is inherited. Each 20th resident of the planet is a carrier of a defective gene. Mukobovydosis occurs in a child if he is from both parents (and from Mom, and from the Pope) received by a genuation with mutation. No natural cataclysms, parental diseases, their smoking or taking alcoholic beverages, stressful situations do not have. Mukobovidosis is equally found often as boys and girls. For more detailed information about inheritance of the genes of the fibrosis, you can contact the genetic advice.

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