Children's progeria is a disease of a genetic nature that leads to irreversible changes in the system of internal organs due to premature aging of the whole organism. For the first time, this ailment was identified and described in 1889 by J. Hutchinson and independently of it in 1904 by H. Guildford. Despite the fact that childhood progeria is an extremely rare disease, more than 150 cases have been described since its discovery. And each of them is carefully studied by a huge number of scientists.
Doctors diagnose only one of 7 million newborns with Hutchinson-Guildford syndrome. Children's progeria is developing rapidly - in just a year, the patientβs body ages by 5β9 years. Children in rare cases survive to the age of 23, dying from diseases more common to older people. The first signs of "childhood" appear in babies, starting from an early age (2-3 years).
As such, treatment does not yet exist, that is, medications are prescribed only for the symptomatic treatment of side ailments. But scientists around the world are studying the problem and are looking for effective methods to solve it.
Children's progeria is characterized by the following manifestations:
- short stature;
- light weight (13-22 kg);
- the thinnest skin through which blood vessels are visible;
- sedentary joints of arms and legs;
- a big head, but a small face;
- high voice.
Causes of the disease
All scientists agree that childhood progeria is not a hereditary disease. Only 1 family is known to the world, where all 3 children have inherited this syndrome.
Not so long ago it was believed that the only reason for "childhood" is the mutation of one gene that takes part in the formation of the protein lamin A. Cell nuclei are built on the basis of this protein. In the process of converting prelamin A into a mature protein, malfunctions occur. Thus, lamin A ultimately differs significantly from healthy protein. This leads to many pathological changes in the body of the child, which are characterized by Hutchinson-Guildford disease. Children's progeria begins to progress, causing premature aging.
But some scientists have discovered another gene in DNA, the mutation of which inevitably leads to this disease. Irreversible processes in the BAF β 1 gene are the cause of the development of defects in the cell membrane. And since BAF β 1 also interacts with other proteins, a mutation in its structure causes disturbances in other proteins.
Is there any chance?
Today, scientists face the difficult task of a comprehensive study of the process of gene mutation. And if they succeed, then sick children will have a real chance to defeat children's progeria, and doctors will prevent its occurrence.
It is worth noting that many patients have a faint hope of salvation. US scientists have begun clinical studies of the remedy against this ailment. It is possible, however, that not every child will be able to live up to this time. But in any case, if the tests are successful and the children's progeria is defeated, this will be a victory for all those who do everything in the name of saving their children from such a terrible disease.