In the Scientific Center of Pediatrics and Pediatric Surgery from August 7 to August 11, 2017, a master class was held with the participation of a foreign expert from Israel, Professor Yakov Berkun, head of the children's department of the University Clinic, on «Diagnosis and treatment of orphan diseases in children, including syndrome Kawasaki».

Rare (orphan) diseases are chronic serious or life-threatening illnesses that can lead to disability, shorten life expectancy. The term "orphan diseases" first appeared in the United States in 1983 when the Orphan Drug Act was passed. He identified 1600 rare diseases, the causes of which and treatment were poorly studied.

In Europe, orphan diseases include congenital and acquired diseases, the frequency of which does not exceed 5 cases per 10,000 population, in Japan, rare diseases are considered if the incidence rate reaches 1 person per 2500 population. In Kazakhstan, as well as in Russia, diseases with a prevalence of no more than 1 case per 10,000 people are considered rare. In 2015, a list of orphan diseases from 50 nosologies was approved in our country.

For today more than 7000 kinds of rare diseases are known and constantly this list is replenished. Most of them are genetic diseases, but among rare diseases there are diseases of an infectious, autoimmune or toxic nature. Unfortunately, the causes of many orthopedic diseases remain unknown. Symptoms of such diseases can occur both from the day of birth, and at a later age. Often remaining unrecognized, these diseases can occur under the masks of various severe conditions, and the vast majority of them die under false diagnoses. One of the varieties of orphan diseases, is Kawasaki disease (mucocutaneous-lymphatic syndrome) - acute systemic necrotizing vasculitis with lesions of large, medium and small arteries, combined with dermal-mucous-ferruginous syndrome. At present, the main task is the timely diagnosis of orphan diseases. Given the lack of diagnosis of rare diseases, at the level of polyclinics and the need to develop an appropriate knowledge base, staffing, the development of special research methods, there was a need for this master class.

The aim of the training is to obtain theoretical knowledge, practical skills and abilities based on modern scientific achievements in the field of children's rheumatology, immunology, and the treatment of orphan rheumatological and immunological diseases of childhood.

On a master class by a foreign expert from Israel, questions were raised: diagnosis and treatment of juvenile idiopathic arthritis, juvenile dermatomyositis, auto-inflammatory diseases, primary immunodeficient conditions, various systemic vasculitis, including Kawasaki disease. Attended by 30 specialists from various regions of the Republic of Kazakhstan, including pediatricians, children's rheumatologists and children's cardiologists. 24 patients with various rheumatological and immunological diseases were consulted.

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