Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency
Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is the hereditary lysosomal storage disease caused by pathological variants in IDS gene. Such variants lead to iduronate-2-sulfatase enzyme deficiency and glycosaminoglycan catabolism disorder. Major clinical signs are central nervous syste...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
"Paediatrician" Publishers LLC
2020-02-01
|
| Series: | Вопросы современной педиатрии |
| Subjects: | |
| Online Access: | https://vsp.spr-journal.ru/jour/article/view/2264 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850023697578983424 |
|---|---|
| author | Nato D. Vashakmadze Leyla S. Namazova-Baranova Natalia V. Zhurkova Ekaterina Yu. Zakharova Grigory V. Revunenkov Tina V. Lobjanidze Marina A. Babaikina |
| author_facet | Nato D. Vashakmadze Leyla S. Namazova-Baranova Natalia V. Zhurkova Ekaterina Yu. Zakharova Grigory V. Revunenkov Tina V. Lobjanidze Marina A. Babaikina |
| author_sort | Nato D. Vashakmadze |
| collection | DOAJ |
| description | Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is the hereditary lysosomal storage disease caused by pathological variants in IDS gene. Such variants lead to iduronate-2-sulfatase enzyme deficiency and glycosaminoglycan catabolism disorder. Major clinical signs are central nervous system lesion, disorders of musculoskeletal system, cardiovascular and respiratory systems pathologies, hepatosplenomegaly, hearing impairment. Enzyme replacement therapy (ERT) makes it possible to adjust metabolic processes in lysosomes of many organs and tissues, to improve clinical signs due to partial restoring of the damaged enzyme function. Cardiovascular pathology is the main cause of death in patients with MPS. In this regard we have studied efficiency of ERT with idursulfase and its effects on the cardiovascular system in 55 patients with MPS II. It has been shown that ERT started from an early age can significantly improve children's condition, reduce or event prevent cardiac involvement. Treatment gaps from 1 to 7 months due to economic or organizational factors in 12 patients caused worsening course of the disease. |
| format | Article |
| id | doaj-art-30d0f00a9939423f9c2e051d8835d869 |
| institution | DOAJ |
| issn | 1682-5527 1682-5535 |
| language | English |
| publishDate | 2020-02-01 |
| publisher | "Paediatrician" Publishers LLC |
| record_format | Article |
| series | Вопросы современной педиатрии |
| spelling | doaj-art-30d0f00a9939423f9c2e051d8835d8692025-08-20T03:01:18Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352020-02-0118648549010.15690/vsp.v18i6.20701854Mucopolysaccharidosis type II: Enzyme Replacement Therapy EfficiencyNato D. Vashakmadze0Leyla S. Namazova-Baranova1Natalia V. Zhurkova2Ekaterina Yu. Zakharova3Grigory V. Revunenkov4Tina V. Lobjanidze5Marina A. Babaikina6Pirogov Russian National Research Medical UniversityPirogov Russian National Research Medical UniversityNational Medical Research Center of Children's HealthScientific Institution Research Center for Medical GeneticsNational Medical Research Center of Children's HealthCity Clinical Hospital № 64 n.a. V.V. VinogradovNational Medical Research Center of Children's HealthMucopolysaccharidosis type II (MPS II), or Hunter syndrome, is the hereditary lysosomal storage disease caused by pathological variants in IDS gene. Such variants lead to iduronate-2-sulfatase enzyme deficiency and glycosaminoglycan catabolism disorder. Major clinical signs are central nervous system lesion, disorders of musculoskeletal system, cardiovascular and respiratory systems pathologies, hepatosplenomegaly, hearing impairment. Enzyme replacement therapy (ERT) makes it possible to adjust metabolic processes in lysosomes of many organs and tissues, to improve clinical signs due to partial restoring of the damaged enzyme function. Cardiovascular pathology is the main cause of death in patients with MPS. In this regard we have studied efficiency of ERT with idursulfase and its effects on the cardiovascular system in 55 patients with MPS II. It has been shown that ERT started from an early age can significantly improve children's condition, reduce or event prevent cardiac involvement. Treatment gaps from 1 to 7 months due to economic or organizational factors in 12 patients caused worsening course of the disease.https://vsp.spr-journal.ru/jour/article/view/2264childrenlysosomal diseasesmucopolysaccharidosis type iicardiovascular systemenzyme replacement therapyidursulfase |
| spellingShingle | Nato D. Vashakmadze Leyla S. Namazova-Baranova Natalia V. Zhurkova Ekaterina Yu. Zakharova Grigory V. Revunenkov Tina V. Lobjanidze Marina A. Babaikina Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency Вопросы современной педиатрии children lysosomal diseases mucopolysaccharidosis type ii cardiovascular system enzyme replacement therapy idursulfase |
| title | Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency |
| title_full | Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency |
| title_fullStr | Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency |
| title_full_unstemmed | Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency |
| title_short | Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency |
| title_sort | mucopolysaccharidosis type ii enzyme replacement therapy efficiency |
| topic | children lysosomal diseases mucopolysaccharidosis type ii cardiovascular system enzyme replacement therapy idursulfase |
| url | https://vsp.spr-journal.ru/jour/article/view/2264 |
| work_keys_str_mv | AT natodvashakmadze mucopolysaccharidosistypeiienzymereplacementtherapyefficiency AT leylasnamazovabaranova mucopolysaccharidosistypeiienzymereplacementtherapyefficiency AT nataliavzhurkova mucopolysaccharidosistypeiienzymereplacementtherapyefficiency AT ekaterinayuzakharova mucopolysaccharidosistypeiienzymereplacementtherapyefficiency AT grigoryvrevunenkov mucopolysaccharidosistypeiienzymereplacementtherapyefficiency AT tinavlobjanidze mucopolysaccharidosistypeiienzymereplacementtherapyefficiency AT marinaababaikina mucopolysaccharidosistypeiienzymereplacementtherapyefficiency |