On May 23-24, 2019, the Scientific Center of Pediatrics and Children’s Surgery (SCPCS), together with the Union of Pediatricians and the public fund of patients with Mucopolysaccharidosis and rare diseases, conducted a training seminar on the topic: "Issues of early diagnosis and management of patients with Mucopolysaccharidosis."
To conduct the seminar, a leading Western European specialist in the study of Mucopolysaccharidosis (MPS), Professor Cristina Lampe, Director of the Center for Clinic Rare Diseases of Giessen University (Germany), was invited. Also, an experts were involved in this issue Sharipova M.N.- Doctor of Sciences, Republican Coordinator for Mucopolysaccharidosis gastroenterologist SCPCS and Tulebaeva A.K. - PhD, associate Department professor of Children's Diseases (No. 2) with a course of neonatology KazNMU named after S.D. Asfendiyarov.
The seminar was attended by 45 doctors, including pediatricians, GPs and narrow specialists: neurologists, hematologists, ENT doctors, gastroenterologists, endocrinologists, anesthetists, orthopedists, therapists.
On the first day of the seminar, issues related to the problems of diagnosis and treatment of MPS in the Republic of Kazakhstan were discussed; features of clinical manifestations of the cardiorespiratory and osteoarticular systems, organs of vision and central nervous system in children with MPS. Particular attention was paid to possible complications and ways to overcome them during anesthetic management of patients with MPS.
Clinical analysis of patients with Mucopolysaccharidosis of types I, II, IVA and VI was carried out under the supervision of specialists in SCPCS.
On the second day of the seminar, issues of continuity between the pediatric and therapeutic services in management of patients with MPS were discussed; early rehabilitation of patients with MPS (musculoskeletal system, respiratory system); according to the criteria for lesions surgical correction of valvular apparatus of the heart, organs of vision, narrowing of the craniovertebral transition, hydrocephalus and bone-articular changes in patients with MPS.
And at the end of the seminar, the Chairman of the Patients Social Fund Samat Ramazanov who made a presentation about Mucopolysaccharidosis called“Life with MPS - My History”.
During the seminar, Cristina Lampe advised patients with MPS II and IV-A types, gave her recommendations on the further management and therapy tactics for these patients.
Seminar’s aim was to raise awareness among doctors about MPS, early diagnosis and treatment of MPS, the creation of a multidisciplinary group for the management of patients with Mucopolysaccharidosis in both the pediatric and therapeutic services.