Cystic Fibrosis: a disease that is important to recognize at birth
Genetic diseases are now becoming more common. The achievements of modern medicine allowed to look inside the human genetic code. Hereditary pathologies often create problems for the work of not only one organ, but the whole organism as a whole. In most cases, the breakdown of genes is evident from the moment the baby comes into the world. Such pathologies include cystic fibrosis.
All the activity of the organism is under the control of a harmonious orchestra – the brain and its assistants. The latter are dominated by anatomical formations – glands. Their main role is to isolate a particular substance – a secret. All glands in the body are divided into two main types. The first secret secret only in the blood and are called glands of internal secretion. To such organs carry a thyroid gland, a pituitary body. Glands of external secretion have a message with different body cavities: bronchial tree, intestine, stomach, esophagus.
Glands with ducts are referred to exocrine (external secretion)
Any gland consists of two parts. In one are the cells that produce the secret. In the other there is a lumen-excretory duct. Such glands are scattered throughout the body. They are contained in the skin and produce sweat and sebum. In the orbit there is a tear gland producing a necessary tear for the eye. In the oral cavity discharge ducts of large and small salivary glands – parotid, sublingual, submandibular. Saliva begins the process of digestion in the mouth.
Changes in the sex glands are an inevitable consequence of cystic fibrosis. The boys are completely clogged with the ducts of the testes, which leads to sterility and the inability to have offspring in the future. Girls are clogged with the appendages of the uterus. In reproductive age, this cause leads to infertility.
A defective cystic fibrosis gene is more common than the disease itself. The disease occurs only if two defective genes are found in the genetic set of the child. If at least one of the parents has given the right gene, the disease will not develop. Patients with cystic fibrosis rarely reach puberty and at the same time can give rise to a new life.
In connection with this circumstance, the meeting of two partners with a defective gene is the main mechanism for the appearance of a sick child. It is called an autosomal-recessive type of inheritance. Sex does not matter. The probability of the birth of an infant with cystic fibrosis is 25%. However, it exists at the first and every subsequent pregnancy of a woman in a similar family. In the family tree of partners can be seen cases of severe broncho-pulmonary, intestinal diseases, infertility among blood relatives.
The severity of the disease depends heavily on the number of cells with a defective gene. In some cases, they contain a different genetic set. This phenomenon is called mosaicism. Its roots go to the beginning of life, when a person is a group of identical cells. Those of them that have received a healthy gene do not lead to changes in the organs. The latter can contain both kinds of cells. In this regard, the severity of the signs of the disease can vary greatly.