Results of 14-year-long Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II: Clinical Case
Background. Mucopolysaccharidosis type II (MPS II) is a rare hereditary disease from the group of lysosomal storage diseases, with progressive course. There is effective enzyme replacement therapy (ERT) for this disease, it prevents the development of severe complications and improves patients’ qual...
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| Format: | Article |
| Language: | English |
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"Paediatrician" Publishers LLC
2023-01-01
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| Series: | Вопросы современной педиатрии |
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| Online Access: | https://vsp.spr-journal.ru/jour/article/view/3072 |
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| author | Natalia V. Zhurkova Nato D. Vashakmadze Ludmila K. Mikhaylova Marina A. Babaykina Nina V. Fedorova Elena Yu. Voskoboeva Ekaterina Yu. Zakharova Leyla S. Namazova-Baranova |
| author_facet | Natalia V. Zhurkova Nato D. Vashakmadze Ludmila K. Mikhaylova Marina A. Babaykina Nina V. Fedorova Elena Yu. Voskoboeva Ekaterina Yu. Zakharova Leyla S. Namazova-Baranova |
| author_sort | Natalia V. Zhurkova |
| collection | DOAJ |
| description | Background. Mucopolysaccharidosis type II (MPS II) is a rare hereditary disease from the group of lysosomal storage diseases, with progressive course. There is effective enzyme replacement therapy (ERT) for this disease, it prevents the development of severe complications and improves patients’ quality of life. Long-term follow-up of health changes in individuals on ERT is required for evaluating the treatment impact on disease progression and eventually on the quality of life of the patient and his family.Clinical case description. Results of 14-year-long follow-up of the patient with MPS II who was the first patient on ERT with idursulfase in Russia are presented. Improvement of growth, decrease in ENT-organs infections frequency, liver and spleen sizes decrease, general stabilization, no progression in cardiovascular and respiratory events, normal levels of glycosaminoglycans in urine are shown.Conclusion. Long-term therapy with idursulfase in severe MPS II stabilizes the patient’s somatic condition, prevents the development of severe complications in cardiovascular and respiratory systems, improves the quality of life of the patient and his family. Urinary glycosaminoglycans level decrease is the important indicator of the therapy efficacy along with overall patient's somatic state. |
| first_indexed | 2024-03-12T04:23:11Z |
| format | Article |
| id | doaj.art-a2f1fa6b03964f108f9c67601e88f1dc |
| institution | Directory Open Access Journal |
| issn | 1682-5527 1682-5535 |
| language | English |
| last_indexed | 2024-03-12T04:23:11Z |
| publishDate | 2023-01-01 |
| publisher | "Paediatrician" Publishers LLC |
| record_format | Article |
| series | Вопросы современной педиатрии |
| spelling | doaj.art-a2f1fa6b03964f108f9c67601e88f1dc2023-09-03T10:32:40Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352023-01-01216S57057610.15690/vsp.v21i6S.24782071Results of 14-year-long Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II: Clinical CaseNatalia V. Zhurkova0Nato D. Vashakmadze1Ludmila K. Mikhaylova2Marina A. Babaykina3Nina V. Fedorova4Elena Yu. Voskoboeva5Ekaterina Yu. Zakharova6Leyla S. Namazova-Baranova7НИИ педиатрии и охраны здоровья детей НКЦ №2, ФГБНУ РНЦХ им. акад. Б.В. Петровского; МГНЦ им. Н.П. БочковаНИИ педиатрии и охраны здоровья детей НКЦ № 2, ФГБНУ РНЦХ им. акад. Б.В. Петровского; РНИМУ им. Н.И. ПироговаНИИ педиатрии и охраны здоровья детей НКЦ № 2, ФГБНУ РНЦХ им. акад. Б.В. ПетровскогоНИИ педиатрии и охраны здоровья детей НКЦ № 2, ФГБНУ РНЦХ им. акад. Б.В. ПетровскогоНИИ педиатрии и охраны здоровья детей НКЦ № 2, ФГБНУ РНЦХ им. акад. Б.В. ПетровскогоМГНЦ им. Н.П. БочковаМГНЦ им. Н.П. БочковаНИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»; РНИМУ им. Н.И. ПироговаBackground. Mucopolysaccharidosis type II (MPS II) is a rare hereditary disease from the group of lysosomal storage diseases, with progressive course. There is effective enzyme replacement therapy (ERT) for this disease, it prevents the development of severe complications and improves patients’ quality of life. Long-term follow-up of health changes in individuals on ERT is required for evaluating the treatment impact on disease progression and eventually on the quality of life of the patient and his family.Clinical case description. Results of 14-year-long follow-up of the patient with MPS II who was the first patient on ERT with idursulfase in Russia are presented. Improvement of growth, decrease in ENT-organs infections frequency, liver and spleen sizes decrease, general stabilization, no progression in cardiovascular and respiratory events, normal levels of glycosaminoglycans in urine are shown.Conclusion. Long-term therapy with idursulfase in severe MPS II stabilizes the patient’s somatic condition, prevents the development of severe complications in cardiovascular and respiratory systems, improves the quality of life of the patient and his family. Urinary glycosaminoglycans level decrease is the important indicator of the therapy efficacy along with overall patient's somatic state.https://vsp.spr-journal.ru/jour/article/view/3072мукополисахаридозтип iiферментозаместительная терапиягликозаминогликаны |
| spellingShingle | Natalia V. Zhurkova Nato D. Vashakmadze Ludmila K. Mikhaylova Marina A. Babaykina Nina V. Fedorova Elena Yu. Voskoboeva Ekaterina Yu. Zakharova Leyla S. Namazova-Baranova Results of 14-year-long Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II: Clinical Case Вопросы современной педиатрии мукополисахаридоз тип ii ферментозаместительная терапия гликозаминогликаны |
| title | Results of 14-year-long Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II: Clinical Case |
| title_full | Results of 14-year-long Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II: Clinical Case |
| title_fullStr | Results of 14-year-long Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II: Clinical Case |
| title_full_unstemmed | Results of 14-year-long Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II: Clinical Case |
| title_short | Results of 14-year-long Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II: Clinical Case |
| title_sort | results of 14 year long enzyme replacement therapy in a patient with mucopolysaccharidosis type ii clinical case |
| topic | мукополисахаридоз тип ii ферментозаместительная терапия гликозаминогликаны |
| url | https://vsp.spr-journal.ru/jour/article/view/3072 |
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