Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation Results in Patients with Hurler Syndrome: Clinical Cases
Mucopolysaccharidosis type I (MPS I) is the hereditary disease characterized with alpha-L-iduronidase activity decrease and further accumulation of heparan and dermatan sulfate in lysosomes. MPS I is rare autosomal recessive disorder with incidence of 0.5–4 cases on 100.000 live-birth infants. Meant...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
"Paediatrician" Publishers LLC
2019-09-01
|
| Series: | Вопросы современной педиатрии |
| Subjects: | |
| Online Access: | https://vsp.spr-journal.ru/jour/article/view/2139 |
| _version_ | 1826561794102001664 |
|---|---|
| author | Nato D. Vashakmadze Leyla S. Namazova-Baranova Natalia V. Zhurkova Ekaterina Yu. Zakharova Svetlana V. Mikhaylova Grigory V. Revunenkov |
| author_facet | Nato D. Vashakmadze Leyla S. Namazova-Baranova Natalia V. Zhurkova Ekaterina Yu. Zakharova Svetlana V. Mikhaylova Grigory V. Revunenkov |
| author_sort | Nato D. Vashakmadze |
| collection | DOAJ |
| description | Mucopolysaccharidosis type I (MPS I) is the hereditary disease characterized with alpha-L-iduronidase activity decrease and further accumulation of heparan and dermatan sulfate in lysosomes. MPS I is rare autosomal recessive disorder with incidence of 0.5–4 cases on 100.000 live-birth infants. Meantime there two approaches in MPS I treatment: hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT). HSCT can be the best option for treatment of patients with severe MPS I (Hurler syndrome). Successful engraftment moderates such clinical signs as obstructive airway diseases, hepatosplenomegaly, cardiovascular system dysfunctions. HSCT prevents cognitive functions decline and other pathologic features of central nervous system. Presented clinical cases show various clinical courses according to age of diagnosis, ERT onset and HSCT implementation. |
| first_indexed | 2024-03-12T04:47:53Z |
| format | Article |
| id | doaj.art-5131c9e48c024b158a4c89f6e4f8d4d7 |
| institution | Directory Open Access Journal |
| issn | 1682-5527 1682-5535 |
| language | English |
| last_indexed | 2025-03-14T09:37:50Z |
| publishDate | 2019-09-01 |
| publisher | "Paediatrician" Publishers LLC |
| record_format | Article |
| series | Вопросы современной педиатрии |
| spelling | doaj.art-5131c9e48c024b158a4c89f6e4f8d4d72025-03-02T11:34:22Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352019-09-0118319620210.15690/vsp.v18i3.20371818Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation Results in Patients with Hurler Syndrome: Clinical CasesNato D. Vashakmadze0Leyla S. Namazova-Baranova1Natalia V. Zhurkova2Ekaterina Yu. Zakharova3Svetlana V. Mikhaylova4Grigory V. Revunenkov5Pirogov Russian National Research Medical University; Central Clinical Hospital, RASPirogov Russian National Research Medical University; Central Clinical Hospital, RASNational Medical Research Center of Children’s HealthResearch Centre for Medical Genetics, MoscowRussian Children’s Clinical Hospital of Pirogov Russian National Research Medical UniversityNational Medical Research Center of Children’s HealthMucopolysaccharidosis type I (MPS I) is the hereditary disease characterized with alpha-L-iduronidase activity decrease and further accumulation of heparan and dermatan sulfate in lysosomes. MPS I is rare autosomal recessive disorder with incidence of 0.5–4 cases on 100.000 live-birth infants. Meantime there two approaches in MPS I treatment: hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT). HSCT can be the best option for treatment of patients with severe MPS I (Hurler syndrome). Successful engraftment moderates such clinical signs as obstructive airway diseases, hepatosplenomegaly, cardiovascular system dysfunctions. HSCT prevents cognitive functions decline and other pathologic features of central nervous system. Presented clinical cases show various clinical courses according to age of diagnosis, ERT onset and HSCT implementation.https://vsp.spr-journal.ru/jour/article/view/2139childrenmucopolysaccharidosis type ihurler syndrometransplantationhematopoietic stem cellenzyme replacement therapysurvivabilit |
| spellingShingle | Nato D. Vashakmadze Leyla S. Namazova-Baranova Natalia V. Zhurkova Ekaterina Yu. Zakharova Svetlana V. Mikhaylova Grigory V. Revunenkov Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation Results in Patients with Hurler Syndrome: Clinical Cases Вопросы современной педиатрии children mucopolysaccharidosis type i hurler syndrome transplantation hematopoietic stem cell enzyme replacement therapy survivabilit |
| title | Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation Results in Patients with Hurler Syndrome: Clinical Cases |
| title_full | Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation Results in Patients with Hurler Syndrome: Clinical Cases |
| title_fullStr | Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation Results in Patients with Hurler Syndrome: Clinical Cases |
| title_full_unstemmed | Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation Results in Patients with Hurler Syndrome: Clinical Cases |
| title_short | Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation Results in Patients with Hurler Syndrome: Clinical Cases |
| title_sort | enzyme replacement therapy and hematopoietic stem cell transplantation results in patients with hurler syndrome clinical cases |
| topic | children mucopolysaccharidosis type i hurler syndrome transplantation hematopoietic stem cell enzyme replacement therapy survivabilit |
| url | https://vsp.spr-journal.ru/jour/article/view/2139 |
| work_keys_str_mv | AT natodvashakmadze enzymereplacementtherapyandhematopoieticstemcelltransplantationresultsinpatientswithhurlersyndromeclinicalcases AT leylasnamazovabaranova enzymereplacementtherapyandhematopoieticstemcelltransplantationresultsinpatientswithhurlersyndromeclinicalcases AT nataliavzhurkova enzymereplacementtherapyandhematopoieticstemcelltransplantationresultsinpatientswithhurlersyndromeclinicalcases AT ekaterinayuzakharova enzymereplacementtherapyandhematopoieticstemcelltransplantationresultsinpatientswithhurlersyndromeclinicalcases AT svetlanavmikhaylova enzymereplacementtherapyandhematopoieticstemcelltransplantationresultsinpatientswithhurlersyndromeclinicalcases AT grigoryvrevunenkov enzymereplacementtherapyandhematopoieticstemcelltransplantationresultsinpatientswithhurlersyndromeclinicalcases |