Mucopolysaccharidoses: clinical case of Hunter syndrome


DOI: https://dx.doi.org/10.18565/therapy.2021.3.87-91

Timofeeva N.Yu., Stomenskaya I.S., Struchko G.Yu., Kostrova O.Yu., Bubnova N.V., Kravchenko N.V.

Chuvash State University named after I.N. Ulyanov, Cheboksary
Abstract. Hunter syndrome is a rare inherited, sexually linked disease associated with a mutation in the IDS gene. The main clinical manifestations of this disease include deformations of the osteoarticular system, pathology of the respiratory, cardiovascular systems, hepatosplenomegaly, hearing impairment, and skin lesions. In severe cases, the nervous system is involved in the process. The article provides extraordinary clinical case of an adult patient with Hunter syndrome. Ensure early diagnosis of this disease is necessary for effective enzyme replacement therapy and prevention of early disability of patients.
Keywords: Hunter syndrome, iduronate-2-sulfatase, mucopolysaccharidosis, glycosaminoglycans, enzyme therapy, «Hurler-like» phenotype
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About the Autors

Natalia Yu. Timofeeva, assistant of the Department of instrumental diagnostics with a course of phthisiology, Chuvash State University named after I.N. Ulyanov. Address: 428015, Cheboksary, 45 Moskovsky Avenue. Tel.: +7 (8352) 45-56-60. E-mail: bla11blabla@yandex.ru
Irina S. Stomenskaya, PhD, associate professor, associate professor of the Department of instrumental diagnostics with a course of phthisiology, Chuvash State University named after I.N. Ulyanov. Address: 428015, Cheboksary, 45 Moskovsky Avenue. Tel.: +7 (8352) 45-56-60. E-mail: irina.stomenskaja@gmail.com
Gleb Yu. Struchko, MD, professor, head of the Department of normal and topographic anatomy with surgery, Chuvash State University named after I.N. Ulyanov. Address: 428015, Cheboksary, 45 Moskovsky Avenue. Tel.: +7 (8352) 45-56-60. E-mail: glebstr@mail.ru
Olga Yu. Kostrova, PhD, associate professor, head of the Department of instrumental diagnostics with a course of phthisiology, Chuvash State University named after I.N. Ulyanov. Address: 428015, Cheboksary, 45 Moskovsky Avenue. Tel.: +7 (8352) 45-56-60. E-mail: evkbiz@yandex.ru
Natalia V. Bubnova, assistant of the Department of instrumental diagnostics with a course of phthisiology, Chuvash State University named after I.N. Ulyanov. Address: 428015, Cheboksary, 45 Moskovsky Avenue. Tel.: +7 (8352) 45-56-60. E-mail: natalia210485@yandex.ru
Natalia V. Kravchenko, assistant of the Department of instrumental diagnostics with a course of phthisiology, Chuvash State University named after I.N. Ulyanov. Address: 428015, Cheboksary, 45 Moskovsky Avenue. Tel.: +7 (8352) 45-56-60. E-mail: sungirl008@gmail.com

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