Children’s Prigheria, which is sometimes also called Getchinson – Gilford syndrome, is a very rare genetic disease. In total, 80 cases of this disease were recorded in the world. When prigeria, the child’s body begins to grow old and at 3 years old, the crumb looks like an old man looks at 70 years old.
How Prigheria develops
Prigheria is a disease that is associated with the mutation of genes. However, the true reason for such a mutation is completely not clear. Someone believes that the heredity of the parents is to blame for everything, someone believes that Prigheria occurs when exposed to the emergence of radiation, for example, during a nuclear explosion or when using an X-ray to diagnose a disease.
The thing is that the mutation at the genetic level occurs in the gene called LMNA. This gene encodes lamines – proteins from which the shell of the cell nucleus is created. At the same time, the Progeria is inherited by autosomal – recessive inheritance. This means that both parents have some kind of damaged genome that meets with another of the same damaged genome. At the same time, half of the children in such parents are born healthy, and half I am inherited in all its manifestation.
Symptoms of Prigheria
Most often the disease does not make itself felt immediately. Until 2 – 3 years, the baby develops normally. No lag in physical and mental development occurs. But then gradually the disease makes itself felt. The growth of the child is almost completely stopped. The skin begins to suffer especially strongly, especially the dermis. It is thinned, dehydrated, becomes dry and very wrinkled. This is especially noticeable on the face and limbs. At the same time, there may be areas on the skin that are strongly pigmented and sclerosed. Through such thin and dry skin begins to shine through the veins.
How Prigheria develops
The appearance in the gearry is very characteristic. The child has a large head, on which large frontal hillocks perform, but the face of the crumbs is very wrinkled, the nose is tiny, and the eyes are large and widely opened. The lower jaw always remains underdevelop. Muscle atrophy occurs, the cessation of the nutrition of teeth and hair, which is why they fall out. During the sample, there are also problems with the cardiac system – myocarditis. Very often there is a violation of lipid metabolism and clouding of the lens. In this case, the deviation of mental and physical development develops.
How Prigheria develops
Life expectancy with Prigheria is approximately 13 years. But most children die without reaching 7 years. But there are cases when patients with this syndrome lived up to 27 years old, but this is more an exception than the rule.
Treatment of Getchinson – Gilford syndrome does not exist. The diagnosis is easily established by the characteristic type of the patient or with the help of a genetic analysis. The prognosis for children’s Prigheria is very unfavorable, and death occurs due to cardiac arrest or the development of cancer of various organs. Syndrome prevention is also impossible due to the fact that the disease is genetic in nature.
