Encouraging news for those who to examine the feasibility of treatment of vasculitis in Israel. Researchers from children's hospital "Safra" failed to prove that the disease that are still medical community are perceived as non-hereditary, actually has a pathogenic basis.
The result of a collaboration of scientists from the hospital "Safra", with the head of the clinic of metabolic diseases by Professor Yair exercising its and other researchers from Israel and the United States became a revolutionary discovery. Scientists have discovered the molecular basis of primary vasculitis. Information about the discovery is published in the latest issue of American medical journal New England Journal of Medicine. Scientists from children's hospital "Safra", took part in this study, we believe that the results of their research open up new possibilities for the treatment of vasculitis in children.
Vasculitis is inflammation of blood vessels - a large group of diseases with large effects on the body. The names and classification of various vasculitis depend on the size and type of blood vessels. One such disease called periarteritis nodosa (Polyarteritis Nodosa). Still, on the basis that it was not revealed to the other members of the same family suffering from the same disease, it was assumed that these diseases are not hereditary. Their pathogenic basis was not known to medicine.
Israeli rheumatologists noticed that periarteritis nodosa is found most often in children from families of Jewish-Georgian origin. Was taken the samples from patients with nodular periarteritis, and the study aimed to identify the genetic basis of this disorder started. One of the initiators of the study were Dr. Shay Pade, the head of the division of pediatric rheumatology at the hospital "Safra" and specializes in the treatment of vasculitis in children.
The results of the study revealed damage CREC1 gene that encoded the enzyme ADA2, and indeed, the level and activity of this enzyme in patients who participated in the study, have been greatly reduced. They also found that about 10% of the population are carriers of the gene mutation CREC1. For the first time in the history of medicine were found monogenic basis of the disease from the group of vasculitis. Thanks to these new discoveries, new, more localized methods of treatment of vasculitis be possible, in particular, and recoverable enzymatic treatment.
The study was conducted with the cooperation of several medical institutions in Israel and abroad. It should be noted that in the same issue of the journal ‘New England Journal of Medicine, published the results of studies of other groups of scientists from the national institutes of health (NIH), which came to similar conclusions, which once again confirms the results of the Israeli study.