On October 26, 2020, a round table was held at the Scientific Center of Pediatrics and Children’s Surgery on the topic: "Early diagnosis and a multidisciplinary approach are the key to a quality life for patients with mucopolysaccharidosis."
Chairman of the Board of "Scientific Center of Pediatrics and Children’s Surgery" R.Z. Boranbaeva noted that before the beginning of 2000, the diagnosis: "Mucopolysaccharidosis" (MPS) was made in isolated cases based on clinical data only. In 2011, only five children were registered in the Republic of Kazakhstan, today 68 children of various types are registered, and almost all patients with mucopolysaccharidosis are provided with pathogenetic treatment with enzyme preparations from the Republican budget.
For patients with MPS, early diagnosis of the disease, timely activation of enzyme replacement therapy, before the occurrence of various complications from the cardiovascular, respiratory systems and central nervous system is important. Currently, new drugs are being developed in the world, the principles of therapy and the correction of complications that have arisen are being improved, the possibilities of using alternative therapy for the detection of antibodies to enzyme preparations are being considered.
At the meeting discussed important aspects of a multidisciplinary approach in early diagnosis of the disease, pathogenetic enzyme replacement, rehabilitation therapy for patients suffering from mucopolysaccharidosis in the Republic of Kazakhstan, which can significantly improve the health status and life quality of patients.
The round table was attended by the Deputy Chairman of the Board for Scientific, Clinical and Innovation Activities, Ph.D. Manzhuova L.N., Chairperson of the “Help today” Alieva E.A., Chairperson of the “Fund of Patients with MPS and Rare Diseases“ Zhana Omir ”S. Ramazanov, Director of the Republican Children's Clinical Sanatorium“ Alatau ”Musaeva K.K., coordinator of the Ministry of Health of the Republic of Kazakhstan on mucopolysaccharidosis, MD Sharipova M.N., coordinator of the Ministry of Health of the Republic of Kazakhstan for Gaucher disease, head of pediatrics, Ph.D. Abdilova G.K., specialists of the Center. On the example of the state of the issue on the diagnosis and treatment of patients with MPS in Russia, the following reports were presented: "Issues of social adaptation, rehabilitation support for patients with MPS" Kurbatov M.A. - Head of the Department of Access of Medicines to the Markets of Nanolek (Russia), "Early Diagnosis and Multidisciplinary Approach to Diagnosis of MPS" V.V. Kalinichenko - Head of the medical department of the company Nanolek (Russia).