EFFECTIVENESS OF MODERN METHODS OF TREATING TYPE I MUCOPOLYSACCHARIDOSIS PATIENTS
Type I mucopolysaccharidosis (MPS) is a hereditary metabolic disease related to lysosomal storage diseases. Alpha-L-iduronidase enzyme deficiency leads to dissimilar disease phenotypes and varying severity of symptoms. Researchers distinguish between three phenotypes of the disease: Hurler syndrome...
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| Format: | Article |
| Language: | Russian |
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Union of pediatricians of Russia
2014-11-01
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| Series: | Педиатрическая фармакология |
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| Online Access: | https://www.pedpharma.ru/jour/article/view/40 |
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| author | L. S. Namazova-Baranova N. D. Vashakmadze M. A. Babaikina E. N. Basargina N. V. Zhurkova A. K. Gevorkyan L. M. Kuzenkova T. V. Podkletnova K. V. Zherdev O. B. Chelpachenko T. D. Degtyareva |
| author_facet | L. S. Namazova-Baranova N. D. Vashakmadze M. A. Babaikina E. N. Basargina N. V. Zhurkova A. K. Gevorkyan L. M. Kuzenkova T. V. Podkletnova K. V. Zherdev O. B. Chelpachenko T. D. Degtyareva |
| author_sort | L. S. Namazova-Baranova |
| collection | DOAJ |
| description | Type I mucopolysaccharidosis (MPS) is a hereditary metabolic disease related to lysosomal storage diseases. Alpha-L-iduronidase enzyme deficiency leads to dissimilar disease phenotypes and varying severity of symptoms. Researchers distinguish between three phenotypes of the disease: Hurler syndrome (mucopolysaccharidosis IH — severe form), Scheie syndrome (mucopolysaccharidosis IS — mild form), Hurler-Scheie syndrome (mucopolysaccharidosis I H/S — moderate form). The article presents a case of Hurler syndrome affecting cardiac, musculoskeletal and nervous systems, as well as data on case follow-up and treatment of a child at a modern multiprofile inpatient hospital. The article demonstrates that unlike the only previously possible palliative treatment, modern methods of treatment, such as enzyme replacement therapy, transplantation of bone marrow stem cells, umbilical cord blood or peripheral sources of stem cells and orthopedic correction, are effective. |
| format | Article |
| id | doaj-art-bab693d07bc0489f9391f8eda09930cc |
| institution | DOAJ |
| issn | 1727-5776 2500-3089 |
| language | Russian |
| publishDate | 2014-11-01 |
| publisher | Union of pediatricians of Russia |
| record_format | Article |
| series | Педиатрическая фармакология |
| spelling | doaj-art-bab693d07bc0489f9391f8eda09930cc2025-08-20T03:23:02ZrusUnion of pediatricians of RussiaПедиатрическая фармакология1727-57762500-30892014-11-01116767910.15690/pf.v11i6.122040EFFECTIVENESS OF MODERN METHODS OF TREATING TYPE I MUCOPOLYSACCHARIDOSIS PATIENTSL. S. Namazova-Baranova0N. D. Vashakmadze1M. A. Babaikina2E. N. Basargina3N. V. Zhurkova4A. K. Gevorkyan5L. M. Kuzenkova6T. V. Podkletnova7K. V. Zherdev8O. B. Chelpachenko9T. D. Degtyareva10Scientific Center of Children’s Health, Moscow, Russian FederationScientific Center of Children’s Health, Moscow, Russian FederationScientific Center of Children’s Health, Moscow, Russian FederationScientific Center of Children’s Health, Moscow, Russian FederationScientific Center of Children’s Health, Moscow, Russian FederationScientific Center of Children’s Health, Moscow, Russian FederationScientific Center of Children’s Health, Moscow, Russian FederationScientific Center of Children’s Health, Moscow, Russian FederationScientific Center of Children’s Health, Moscow, Russian FederationScientific Center of Children’s Health, Moscow, Russian FederationScientific Center of Children’s Health, Moscow, Russian FederationType I mucopolysaccharidosis (MPS) is a hereditary metabolic disease related to lysosomal storage diseases. Alpha-L-iduronidase enzyme deficiency leads to dissimilar disease phenotypes and varying severity of symptoms. Researchers distinguish between three phenotypes of the disease: Hurler syndrome (mucopolysaccharidosis IH — severe form), Scheie syndrome (mucopolysaccharidosis IS — mild form), Hurler-Scheie syndrome (mucopolysaccharidosis I H/S — moderate form). The article presents a case of Hurler syndrome affecting cardiac, musculoskeletal and nervous systems, as well as data on case follow-up and treatment of a child at a modern multiprofile inpatient hospital. The article demonstrates that unlike the only previously possible palliative treatment, modern methods of treatment, such as enzyme replacement therapy, transplantation of bone marrow stem cells, umbilical cord blood or peripheral sources of stem cells and orthopedic correction, are effective.https://www.pedpharma.ru/jour/article/view/40mucopolysaccharidosisbone marrow transplantationenzyme replacement therapycarpal tunnel syndromedilated cardiomyopathy |
| spellingShingle | L. S. Namazova-Baranova N. D. Vashakmadze M. A. Babaikina E. N. Basargina N. V. Zhurkova A. K. Gevorkyan L. M. Kuzenkova T. V. Podkletnova K. V. Zherdev O. B. Chelpachenko T. D. Degtyareva EFFECTIVENESS OF MODERN METHODS OF TREATING TYPE I MUCOPOLYSACCHARIDOSIS PATIENTS Педиатрическая фармакология mucopolysaccharidosis bone marrow transplantation enzyme replacement therapy carpal tunnel syndrome dilated cardiomyopathy |
| title | EFFECTIVENESS OF MODERN METHODS OF TREATING TYPE I MUCOPOLYSACCHARIDOSIS PATIENTS |
| title_full | EFFECTIVENESS OF MODERN METHODS OF TREATING TYPE I MUCOPOLYSACCHARIDOSIS PATIENTS |
| title_fullStr | EFFECTIVENESS OF MODERN METHODS OF TREATING TYPE I MUCOPOLYSACCHARIDOSIS PATIENTS |
| title_full_unstemmed | EFFECTIVENESS OF MODERN METHODS OF TREATING TYPE I MUCOPOLYSACCHARIDOSIS PATIENTS |
| title_short | EFFECTIVENESS OF MODERN METHODS OF TREATING TYPE I MUCOPOLYSACCHARIDOSIS PATIENTS |
| title_sort | effectiveness of modern methods of treating type i mucopolysaccharidosis patients |
| topic | mucopolysaccharidosis bone marrow transplantation enzyme replacement therapy carpal tunnel syndrome dilated cardiomyopathy |
| url | https://www.pedpharma.ru/jour/article/view/40 |
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