Section: 
General questions of otolaryngology
General questions of otolaryngologyOtolaryngologic symptoms in hunter syndrome (mucopolysaccharidosis type ii)
Ya. L. Shcherbakova (1), S. V. Astashchenko (2), S. M. Megrelishvili (3), S. B. Sugarova (4)
(1), (2), (3), (4) Saint Petersburg Research Institute of Ear, Throat, Nose and Speech, Saint Petersburg, 190013, Russia
UDK: УДК 616.284-003.2-056.7-036.65
DOI: https://doi.org/10.18692/1810-4800-2025-4-28-36
ABSTRACT
Abstract. Mucopolysaccharidoses (MPS) are a group of rare hereditary diseases that belong to lysosomal storage diseases. The incidence of MPS ranges from 1:19,000 to 1:43,000 people and depends on the geographic region. Currently, several types of mucopolysaccharidoses are distinguished. Hunter syndrome or MPS type II is characterized by a recessive, X-linked type of inheritance associated with a mutation in the gene encoding the lysosomal enzyme iduronate-2-sulfatase. The enzyme dysfunction resulting in accumulation of glycosaminoglycans in different tissues and organs leads to polyorgan damage: delayed neuropsychomotor development, facial dysmorphism, organomegaly, damage to the musculoskeletal system, respiratory and cardiovascular systems as well as the central nervous system and ENT organs. The detailed description of the complex of MPS II type symptoms presented in the article is aimed at raising the awareness of the ENT specialists, development of the clinical alertness, and understanding the tactics of managing these patients.
Publication date:
13.08.2025
Keywords:
storage diseases, Hunter syndrome, glycosaminoglycans, recurrent otitis media with effusion For citation:
Shcherbakova Ya. L., Astashchenko S. V., Megrelishvili S. M., Sugarova S. B. Otolaryngologic symptoms in hunter syndrome (mucopolysaccharidosis type ii). Russian Otorhinolaryngology. 2025;24(4):28-36. (In Russ.) https://doi.org/10.18692/1810-4800-2025-4-28-36