Enzyme Replacement Therapy with Idursulfase in Patients with Mucopolysaccharidosis Type II: Literature Review
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is X-linked hereditary disease from the group of lysosomal storage disease. Its prevalence is 3–7 cases per 1 million live-born boys. MPS II occurs due to the deficiency of iduronate-2-sulfatase enzyme because of pathological changes in the str...
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"Paediatrician" Publishers LLC
2021-12-01
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| Series: | Вопросы современной педиатрии |
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| Online Access: | https://vsp.spr-journal.ru/jour/article/view/2791 |
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| author | Nato D. Vashakmadze Natalya V. Zhurkova Olga B. Gordeeva Elena V. Komarova Tatyana E. Privalova Anastasya I. Rykunova Marina А. Babaykina |
| author_facet | Nato D. Vashakmadze Natalya V. Zhurkova Olga B. Gordeeva Elena V. Komarova Tatyana E. Privalova Anastasya I. Rykunova Marina А. Babaykina |
| author_sort | Nato D. Vashakmadze |
| collection | DOAJ |
| description | Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is X-linked hereditary disease from the group of lysosomal storage disease. Its prevalence is 3–7 cases per 1 million live-born boys. MPS II occurs due to the deficiency of iduronate-2-sulfatase enzyme because of pathological changes in the structure of the IDS gene. Enzyme deficiency leads to the accumulation of glycosaminoglycans (GAGs), dermatan sulfate and heparan sulfate, in lysosomes. This leads to the damage of various organs and systems in the body with further development of clinical picture of the disease: coarse face, recurrent infections of upper respiratory tract, hearing loss up to deafness, cardiovascular and respiratory systems pathologies, hepatosplenomegaly, musculoskeletal system abnormalities, low growth, central nervous system damage. Enzyme replacement therapy with idursulfase, that was introduced in clinical practice 15 years ago, has significantly changed the quality of life of these patients. Idursulfase is purified form of natural lysosomal enzyme iduronate-2-sulfatase obtained via human cell line. Exogenous enzyme entry promotes GAGs catabolism in cells. This article provides outcomes analysis of foreign and Russian studies on the efficacy and safety of this medication, and its effect on MPS II patients survivability. |
| format | Article |
| id | doaj-art-8bcea21d0889433c97c852e58a4410f7 |
| institution | Kabale University |
| issn | 1682-5527 1682-5535 |
| language | English |
| publishDate | 2021-12-01 |
| publisher | "Paediatrician" Publishers LLC |
| record_format | Article |
| series | Вопросы современной педиатрии |
| spelling | doaj-art-8bcea21d0889433c97c852e58a4410f72025-08-20T03:59:53Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352021-12-01206s61862310.15690/vsp.v20i6S.23712000Enzyme Replacement Therapy with Idursulfase in Patients with Mucopolysaccharidosis Type II: Literature ReviewNato D. Vashakmadze0Natalya V. Zhurkova1Olga B. Gordeeva2Elena V. Komarova3Tatyana E. Privalova4Anastasya I. Rykunova5Marina А. Babaykina6Research Institute of Pediatrics and Children’s Health in “Central Clinical Hospital of the Russian Academy of Sciences”; Pirogov Russian National Research Medical UniversityResearch Institute of Pediatrics and Children’s Health in “Central Clinical Hospital of the Russian Academy of Sciences”; Medical Genetic Research Center named after N.P. BochkovResearch Institute of Pediatrics and Children’s Health in “Central Clinical Hospital of the Russian Academy of Sciences”; Pirogov Russian National Research Medical UniversityResearch Institute of Pediatrics and Children’s Health in “Central Clinical Hospital of the Russian Academy of Sciences”Research Institute of Pediatrics and Children’s Health in “Central Clinical Hospital of the Russian Academy of Sciences”; Pirogov Russian National Research Medical UniversityResearch Institute of Pediatrics and Children’s Health in “Central Clinical Hospital of the Russian Academy of Sciences”; Pirogov Russian National Research Medical UniversityResearch Institute of Pediatrics and Children’s Health in “Central Clinical Hospital of the Russian Academy of Sciences”Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is X-linked hereditary disease from the group of lysosomal storage disease. Its prevalence is 3–7 cases per 1 million live-born boys. MPS II occurs due to the deficiency of iduronate-2-sulfatase enzyme because of pathological changes in the structure of the IDS gene. Enzyme deficiency leads to the accumulation of glycosaminoglycans (GAGs), dermatan sulfate and heparan sulfate, in lysosomes. This leads to the damage of various organs and systems in the body with further development of clinical picture of the disease: coarse face, recurrent infections of upper respiratory tract, hearing loss up to deafness, cardiovascular and respiratory systems pathologies, hepatosplenomegaly, musculoskeletal system abnormalities, low growth, central nervous system damage. Enzyme replacement therapy with idursulfase, that was introduced in clinical practice 15 years ago, has significantly changed the quality of life of these patients. Idursulfase is purified form of natural lysosomal enzyme iduronate-2-sulfatase obtained via human cell line. Exogenous enzyme entry promotes GAGs catabolism in cells. This article provides outcomes analysis of foreign and Russian studies on the efficacy and safety of this medication, and its effect on MPS II patients survivability.https://vsp.spr-journal.ru/jour/article/view/2791mucopolysaccharidosis type iihunter syndromeidursulfaseenzyme replacement therapysurvivability |
| spellingShingle | Nato D. Vashakmadze Natalya V. Zhurkova Olga B. Gordeeva Elena V. Komarova Tatyana E. Privalova Anastasya I. Rykunova Marina А. Babaykina Enzyme Replacement Therapy with Idursulfase in Patients with Mucopolysaccharidosis Type II: Literature Review Вопросы современной педиатрии mucopolysaccharidosis type ii hunter syndrome idursulfase enzyme replacement therapy survivability |
| title | Enzyme Replacement Therapy with Idursulfase in Patients with Mucopolysaccharidosis Type II: Literature Review |
| title_full | Enzyme Replacement Therapy with Idursulfase in Patients with Mucopolysaccharidosis Type II: Literature Review |
| title_fullStr | Enzyme Replacement Therapy with Idursulfase in Patients with Mucopolysaccharidosis Type II: Literature Review |
| title_full_unstemmed | Enzyme Replacement Therapy with Idursulfase in Patients with Mucopolysaccharidosis Type II: Literature Review |
| title_short | Enzyme Replacement Therapy with Idursulfase in Patients with Mucopolysaccharidosis Type II: Literature Review |
| title_sort | enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type ii literature review |
| topic | mucopolysaccharidosis type ii hunter syndrome idursulfase enzyme replacement therapy survivability |
| url | https://vsp.spr-journal.ru/jour/article/view/2791 |
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