Modern aspects of diagnosis and treatment of Hurler syndrome in children: achievements and prospects

Hurler syndrome is the most severe form of metabolic genetic disease, mucopolysaccharidosis (MPS) type I, caused by a mutation of the IDUA gene (the gene encoding the alpha-L-iduronidase enzyme). This year in the Omsk region, a case of MPS type I (Hurler syndrome) was diagnosed in a girl V., 2.5 years old, so far the only one in the region. Late diagnosis of MPS type I does not allow to receive the necessary amount of therapy, which leads to a more severe course of this multisystem disease with the formation of complications and a decrease in the patient’s quality of life. This fact determines the relevance of the problem. Despite the relative rarity of this pathology, timely diagnosis is very important. The gold standard of treatment is hematopoietic stem cell transplantation (HSCT). This method is associated with a number of complications, so therapy should be started before the clinically complete picture of the disease, namely, before the age of 2. The earlier HSCT is performed, the better the cognitive functions and somatic manifestations are. However, even timely treatment does not guarantee that the patient is free from the burden of the disease. Along with this, enzyme replacement therapy with laronidase is widely used, but it is ineffective in Hurler syndrome. This determines the need to consider other strategies to improve treatment outcomes. Scientific research into early screening methods and more effective therapy with genetic engineering technologies is actively ongoing.