Progeria

Description:

The progeria is a progressive genetic disease which causes bystry aging, since first two years of life.

Progeria symptoms:

Children with the progeria also known as Hutchinson-Gilforda's syndrome, as a rule, look normal at the birth. In 12 months the first signs - the slow growth and a hair loss begin to be shown. Average life expectancy of the child with a progeria makes about 13 years, but some patients with this disease die earlier, and some live 20 years and more.
Heart troubles or strokes are a possible cause of death of most of children with a progeria. Usually within the first year of life noticeable delay of growth and a shortage of a vech is noted. These indicators are in range below an average for the age. Motive development and intelligence remains normal.
Symptoms of this progressing disease include:
- indicators of growth and weight are lower than an average;
- hooked nose;
- a hair loss (baldness), including eyebrows and eyelashes;
- a skin thickening on a trunk and extremities (scleroderma);
- disproportionately big head;
- thin lips;
- allocation of veins;
- reduction of a mandible (micrognatia);
- high pitched voice;
- delay and abnormal odontosis;
- reduction of fatty and muscular tissue;
- rigidity of joints;
- resistance to insulin;
- disturbance of a cordial rhythm.

Progeria reasons:

Researchers found a mutation of a gene responsible for development of a syndrome of Hutchinson-Gilforda (progeria). The gene is known as ламин (LMNA), its role in the course of cell division is indisputable. Researchers consider that the genetic mutation does cells unstable that leads to characteristic processes of aging.

Unlike many genetic mutations, Hutchinson-Gilforda's progeria is not descended. Most likely, emergence of a gene is accident. Any of parents are not the carrier, thus, mutations in genes of children are new (De Novo).

Differential diagnosis:

There are, however, also other progeroid-syndromes which are transferred from generation to generation. They include Wiedemann-Rautenstrauch's syndrome and Verner's syndrome. At Wiedemann-Rautenstrauch's syndrome also known as the progeroid-syndrome of newborns, the beginning of processes of aging begins in mother's womb, and symptoms are shown already at the birth. Verner's syndrome begins at teenage or early adult age.

Treatment of a progeria:

There is no effective treatment of a progeria. Regular monitoring of cardiovascular diseases can timely help to distinguish complications at the child. Some children need performing coronary shunting or angioplasty that allows to slow down progressing of cardiovascular diseases.
Some methods of treatment can facilitate or detain progressing of symptoms of a progeria. They include:
1. Low doses of aspirin. The daily dose can help to prevent heart attacks and a stroke.
2. Other drugs. Depending on a condition of the child, the doctor can appoint other drugs, such as statines for decrease in level of cholesterol or anticoagulants for prevention of formation of blood clots. Use of a growth hormone can promote increase in growth and weight.
3. Physical therapy. Physiotherapy can help with rigidity of joints, perhaps, will allow the child to remain active.
4. Removal of milk teeth. Formation of second teeth at the child can begin very much early therefore it is necessary to extract milk teeth in advance.
The conducted researches. The drugs known as inhibitors of farnesyltransferase (FTIs) enzyme which were developed for cancer therapy showed the encouraging results of laboratory researches in correction of defects of a cell which cause a progeria. FTIs pass clinical tests concerning treatment of a progeria now.