Diagnostic Difficulties of Mucopolysaccharidosis Type I Mild Forms: Clinical Cases
Nato D. Vashakmadze,
Leyla S. Namazova-Baranova,
Natalia V. Zhurkova,
Ekaterina Yu. Zakharova,
Elena J. Voskobaeva,
Marina A. Babaikina,
Lyudmila M. Mikhaylova https://doi.org/10.15690/vsp.v19i2.2106
Abstract
Mucopolysaccharidosis type I mild forms include Scheie syndrome and Hurler-Scheie syndrome that are characterized by slow progression, intact intelligence, and primarily effect on visual organ, musculoskeletal and cardiovascular systems. Early diagnostics, multidisciplinary approach to examination and monitoring, timely management are crucial in maintenance of patients' quality of life, preventing complications development and early disability. The article provides the overview of published data and description of 3 clinical cases with mild course of mucopolysaccharidosis type I.
Keywords
Supporting agencies: Not specified.
About the Authors
Nato D. Vashakmadze
Pirogov Russian National Research Medical University; Central Clinical Hospital of the Russian Academy of Sciences
Russian Federation
Disclosure of interest: Nato D. Vashakmadze — receives fees for lecturing from Takeda, Sanofi, Biomarin companies.
Russian Federation
Moscow.
Disclosure of interest: Nato D. Vashakmadze — receives fees for lecturing from Takeda, Sanofi, Biomarin companies.
Leyla S. Namazova-Baranova
Pirogov Russian National Research Medical University; Central Clinical Hospital of the Russian Academy of Sciences
Russian Federation
Disclosure of interest: Leyla S. Namazova-Baranova — receiving research grants and fees for scientific counseling and lecturing from pharmaceutical companies MSD Pharmaceuticals LLC, FORT LLC, Shire Biotech Rus LLC, Pfizer Innovations LLC, Sanofi Aventis Group LLC, AbbVie LLC, Pierre Fabre LLC.
Russian Federation
Moscow.
Disclosure of interest: Leyla S. Namazova-Baranova — receiving research grants and fees for scientific counseling and lecturing from pharmaceutical companies MSD Pharmaceuticals LLC, FORT LLC, Shire Biotech Rus LLC, Pfizer Innovations LLC, Sanofi Aventis Group LLC, AbbVie LLC, Pierre Fabre LLC.
Natalia V. Zhurkova
National Medical Research Center for Children's Health
Russian Federation
Disclosure of interest: Natalia V. Zhurkova — receives fees for lecturing from Takeda, Sanofi, Biomarin companies.
Russian Federation
Moscow.
Disclosure of interest: Natalia V. Zhurkova — receives fees for lecturing from Takeda, Sanofi, Biomarin companies.
Ekaterina Yu. Zakharova
Research Centre for Medical Genetics
Russian Federation
Disclosure of interest: Ekaterina Yu. Zakharova — receives fees for lecturing from Takeda, Sanofi, Biomarin companies.
Russian Federation
Moscow.
Disclosure of interest: Ekaterina Yu. Zakharova — receives fees for lecturing from Takeda, Sanofi, Biomarin companies.
Elena J. Voskobaeva
Research Centre for Medical Genetics
Russian Federation
Disclosure of interest:
Russian Federation
Moscow.
Disclosure of interest:
Not declared.
Marina A. Babaikina
Central Clinical Hospital of the Russian Academy of Sciences
Russian Federation
Disclosure of interest:
Russian Federation
Moscow.
Disclosure of interest:
Not declared.
Lyudmila M. Mikhaylova
Consultative and Diagnostic Center of National Medical Research Center of Traumatology and Orthopedics n.a. N.N. Priorov
Russian Federation
Disclosure of interest:
Russian Federation
Moscow.
Disclosure of interest:
Not declared.
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For citations:
Vashakmadze N.D., Namazova-Baranova L.S., Zhurkova N.V., Zakharova E.Yu., Voskobaeva E.J., Babaikina M.A., Mikhaylova L.M. Diagnostic Difficulties of Mucopolysaccharidosis Type I Mild Forms: Clinical Cases. Current Pediatrics. 2020;19(2):132-141. (In Russ.) https://doi.org/10.15690/vsp.v19i2.2106
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