The natural history of type 2 Gaucher disease in the 21st century
| Autor: | Emory Ryan, Grisel Lopez, Ellen Sidransky, Gurpreet K. Seehra, Alta M. Steward, Tamanna Roshan Lal, Chelsie N. Poffenberger, Nahid Tayebi |
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| Rok vydání: | 2020 |
| Předmět: |
Male
0301 basic medicine Pediatrics medicine.medical_specialty Disease Article 03 medical and health sciences 0302 clinical medicine Cost of Illness Humans Medicine Substrate reduction therapy Family history Retrospective Studies Cause of death Gaucher Disease business.industry Disease Management Infant Retrospective cohort study Enzyme replacement therapy Natural history 030104 developmental biology Disease Presentation Child Preschool Disease Progression Female Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Neurology |
| ISSN: | 1526-632X 0028-3878 |
| DOI: | 10.1212/wnl.0000000000010605 |
| Popis: | ObjectiveTo gather natural history data to better understand the changing course of type 2 Gaucher disease (GD2) in order to guide future interventional protocols.MethodsA structured interview was conducted with parents of living or deceased patients with GD2. Retrospective information obtained included disease presentation, progression, medical and surgical history, medications, family history, management, complications, and cause of death, as well as the impact of disease on families.ResultsData from 23 patients were analyzed (20 deceased and 3 living), showing a mean age at death of 19.2 months, ranging from 3 to 55 months. Fourteen patients were treated with enzyme replacement therapy, 2 were treated with substrate reduction therapy, and 3 underwent bone marrow transplantation. Five patients received ambroxol and one was on N-acetylcysteine, both considered experimental treatments. Fifteen patients had gastrostomy tubes placed; 10 underwent tracheostomies. Neurologic disease manifestations included choking episodes, myoclonic jerks, autonomic dysfunction, apnea, seizures, and diminished blinking, all of which worsened as disease progressed.ConclusionsCurrent available therapies appear to prolong life but do not alter neurologic manifestations. Despite aggressive therapeutic interventions, GD2 remains a progressive disorder with a devastating prognosis that may benefit from new treatment approaches. |
| Databáze: | OpenAIRE |
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