On 20th October, 2017 international seminar MPS II (Hunter Syndrome) from Diagnosis to Treatment took place in Vilnius. During the seminar, physicians have shared their experience in diagnosing and treating Hunter syndrome.
Hunter syndrome is a rare X-linked recessive lysosomal storage disease, caused by deficiency of iduronat-2-sulfatase. Lack of this enzyme results in accumulation of glycosaminoglycans (heparansulfate and darmatansulfate) in all body cells. This disease, like other mucopolysaccharidoses causes coarse facial features – wide nose, thick lips, bushy eyebrows and large round cheeks. Patiens usually also have low body height, bone and joint problems, carpal tunnel syndrome, cardiomyopathy, inguinal and umbilical hernias, hearing loss, frequent middle ear and respiratory infections.
During the seminar, lectures were held by Santaros clinics physicians – pediatric oncohematologist assoc. prof. G. Kleinotienė, pediatric cardiologists M. Jakutovič, MD, and V. Černiauskienė, MD, radiologist A. Neverauskienė, MD and Children’s Memorial Health Institute, Warsaw, prof. A. Tylki-Szymanska. Manifestation, symptoms, testing, heart and skeletal changes and experience of Santaros clinics physicians in treating patients with MPS II were discussed.
Second part of the seminar took place in Children’s Hospital, where the experienced professor A. Tylki-Szymanska consulted children with rare diseases and their parents and answered their questions.