Combination Treatment for Severe Forms of Mucopolysaccharidosis, Type I (Hurler Syndrome): Case Report
Background. Hurler syndrome (mucopolysaccharidosis, type I) is a rare hereditary disease with chronic course. The main methods for Hurler syndrome management are hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT). In recent years, combination treatment (ERT administr...
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"Paediatrician" Publishers LLC
2023-12-01
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| Series: | Вопросы современной педиатрии |
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| Online Access: | https://vsp.spr-journal.ru/jour/article/view/3361 |
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| author | Nato V. Vashakmadze Natalia V. Zhurkova Marina A. Babaykina Albina V. Dobrotok Olga B. Gordeeva Leyla S. Namazova-Baranova |
| author_facet | Nato V. Vashakmadze Natalia V. Zhurkova Marina A. Babaykina Albina V. Dobrotok Olga B. Gordeeva Leyla S. Namazova-Baranova |
| author_sort | Nato V. Vashakmadze |
| collection | DOAJ |
| description | Background. Hurler syndrome (mucopolysaccharidosis, type I) is a rare hereditary disease with chronic course. The main methods for Hurler syndrome management are hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT). In recent years, combination treatment (ERT administration both before and after HSCT) has shown its efficacy in case of disease progression. Clinical case description. The presented clinical cases demonstrate the efficacy of ERT administration in patients with Hurler syndrome after HSCT: in the first clinical case due to the decrease in alpha-iduronidase activity 2 years after HSCT, in the second clinical case due to the aggravation of the patient's condition (cardiovascular and respiratory systems, hepatomegaly, although the level of enzyme and glycosaminoglycans in the patient's urine remained within normal values). Conclusion. Combination treatment including ERT not only before HSCT, but also in case of clinical state worsening after HSCT, plays significant role in stabilizing the patient's condition, preventing rapid progression of symptoms and development of life-threatening complications (especially cardiovascular ones). |
| format | Article |
| id | doaj-art-99b2bb080d224afc921c4cb512c29ce2 |
| institution | DOAJ |
| issn | 1682-5527 1682-5535 |
| language | English |
| publishDate | 2023-12-01 |
| publisher | "Paediatrician" Publishers LLC |
| record_format | Article |
| series | Вопросы современной педиатрии |
| spelling | doaj-art-99b2bb080d224afc921c4cb512c29ce22025-08-20T03:21:55Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352023-12-0122655455910.15690/vsp.v22i6.27012156Combination Treatment for Severe Forms of Mucopolysaccharidosis, Type I (Hurler Syndrome): Case ReportNato V. Vashakmadze0Natalia V. Zhurkova1Marina A. Babaykina2Albina V. Dobrotok3Olga B. Gordeeva4Leyla S. Namazova-Baranova5Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of SurgeryResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of SurgeryResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of SurgeryResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityBackground. Hurler syndrome (mucopolysaccharidosis, type I) is a rare hereditary disease with chronic course. The main methods for Hurler syndrome management are hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT). In recent years, combination treatment (ERT administration both before and after HSCT) has shown its efficacy in case of disease progression. Clinical case description. The presented clinical cases demonstrate the efficacy of ERT administration in patients with Hurler syndrome after HSCT: in the first clinical case due to the decrease in alpha-iduronidase activity 2 years after HSCT, in the second clinical case due to the aggravation of the patient's condition (cardiovascular and respiratory systems, hepatomegaly, although the level of enzyme and glycosaminoglycans in the patient's urine remained within normal values). Conclusion. Combination treatment including ERT not only before HSCT, but also in case of clinical state worsening after HSCT, plays significant role in stabilizing the patient's condition, preventing rapid progression of symptoms and development of life-threatening complications (especially cardiovascular ones).https://vsp.spr-journal.ru/jour/article/view/3361mucopolysaccharidosistype ihurler syndromehematopoietic stem cell transplantationenzyme replacement therapy |
| spellingShingle | Nato V. Vashakmadze Natalia V. Zhurkova Marina A. Babaykina Albina V. Dobrotok Olga B. Gordeeva Leyla S. Namazova-Baranova Combination Treatment for Severe Forms of Mucopolysaccharidosis, Type I (Hurler Syndrome): Case Report Вопросы современной педиатрии mucopolysaccharidosis type i hurler syndrome hematopoietic stem cell transplantation enzyme replacement therapy |
| title | Combination Treatment for Severe Forms of Mucopolysaccharidosis, Type I (Hurler Syndrome): Case Report |
| title_full | Combination Treatment for Severe Forms of Mucopolysaccharidosis, Type I (Hurler Syndrome): Case Report |
| title_fullStr | Combination Treatment for Severe Forms of Mucopolysaccharidosis, Type I (Hurler Syndrome): Case Report |
| title_full_unstemmed | Combination Treatment for Severe Forms of Mucopolysaccharidosis, Type I (Hurler Syndrome): Case Report |
| title_short | Combination Treatment for Severe Forms of Mucopolysaccharidosis, Type I (Hurler Syndrome): Case Report |
| title_sort | combination treatment for severe forms of mucopolysaccharidosis type i hurler syndrome case report |
| topic | mucopolysaccharidosis type i hurler syndrome hematopoietic stem cell transplantation enzyme replacement therapy |
| url | https://vsp.spr-journal.ru/jour/article/view/3361 |
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